Table of Contents
BENTHAM SCIENCE PUBLISHERS LTD.
End User License Agreement (for non-institutional, personal use)
Usage Rules:
Disclaimer:
Limitation of Liability:
General:
PREFACE
List of Contributors
Chromosome 13
Abstract
1. ABCC4- ATP Binding Cassette Subfamily C Member 4 Chromosome 13; 13q32.1
2. ARL11- ADP Ribosylation Factor like GTPase 11 Chromo-some: 13; 13q14.2
3. AT7B - ATPase Copper Transporting Beta Chromosome: 13; 13q14.3
4. BRCA2- Breast Cancer Gene 2 Chromosome 13; 13q13.1
5. CCNA1- Cycline A1 Chromosome 13; 13q13.3
6. CDX2- Caudal Type Homeobox 2 Chromosome 13;13q12.2
7. COL4A2- Collagen, Type IV, Alpha 2 Chromosome 13; 13q34
8. CUL4A- Cullin 4 Alpha Chromosome 13; 13q34
9. DACH1- Dachshund Family Transcription Factor 1 Chromosome 13; 13q21
10. DLEU2- Deleted in Lymphocytic Leukemia 1 Chromo-some 13; 13q14
11. EDNRB- Endothelin Receptor Type B Chromosome 13; 13q22.3
12. EFNB2- Ephrin B2 Chromosome 13; 13q33.3
13. ERCC5 - Excision repair Cross-Complementing Repair 5 Chromosome 13; 13q33.1
14. FGF9- Fibroblast Growth Factor 9 Chromo-some 13; 13q12.11
15. FLT1- Fms Related Receptor Tyrosine Kinase 1 Chromo-some 13; 13q12.3
16. FLT3- Fms-Related Tyrosine Kinase 3 Chromosome 13; 13q12.2
17. FOXO1- Forkhead Box O1 Chromosome 13; 13q14.11
18. GAS6 - Growth Arrest-Specific 6 Chromosome 13; 13q34
19. GJB2- Gap Junction Protein Beta 2 Chromosome 13; 13q12.11
20. IFT88 – Intra Flagellar Transport Protein 88 Chromo-some 13; 13q12.11
21. ING1- Inhibitor of Growth Protein1 Chromosome 13; 13q34
22. IRS2- Insulin Receptor Substrate 2 Chromosome 13; 13q34
23. KL- Klotho Chromosome 13; 13q13.1
24. KLF5- Krueppel- like Factor 5 Chromosome 13; Loca-tion: 13q22.1
25. LAMP1- Lysosomal Associated Membrane Protein 1 Chromosome 13; Location: 13q34
26. LATS2- Large Tumor Suppressor Kinase 2 Chromosome 13; Location: 13q12.11
27. LCP1- Lymphocyte Cytosolic Protein 1 Chromosome 13; Location: 13q12.11
28. LHFP- Lipoma HMGIC Fusion Partner Chromosome 13; Location: 13q13.3-q14.11
29. LIG4- DNA Ligase 4 Chromosome 13; Location: 13q33.3
30. MIR1297 - microRNA 1297 Chromosome 13; Location: 13q-14.3
31. OLFM4- Olfactomedin 4 Chromosome 13; Location: 13q-14.3
32. PDX1- Pancreatic and Duodenal Homeobox 1 Chromo-some 13; Location: 13q12.1
33. POSTN- Periostin Chromosome 13; Location: 13q13.3
34. RAP2A- Ras-Related Protein Rap-2a Chromosome 13; Location: 13q32.1
35. RB1- Retinoblastoma Transcriptional Corepressor 1 Chromosome 13; Location: 13q14.2
36. SACS- Sacsin Molecular Chaperone Chromosome 13; Location: 13q12.12
37. SOX1- SRY-Box Transcription Factor 1 Chromosome 13; Location: 13q34
38. SPRY2- Sprouty 2 Chromosome 13; Location: 13q31.1
39. STARD13- StAR-Related Lipid Transfer Domain Protein 13 Chromosome 13; Location: 13q13.1-q13.2
CONCLUSION
REFERENCES
Chromosome 14
Abstract
1. AKT1: AKT Serine/Threonine Kinase 1. Chromosome 14; 14q32.33
2. APEX1: Apurinic/Apyrimidinic Endodeoxyribonuclease 1 Chromosome 14; 14q11.2
3. ARID4A: AT-Rich Interaction Domain 4A Chromosome 14; 14q23.1
4. BCL11B: BAF Chromatin Remodeling Complex Subunit BCL11B Chromosome 14; 14q32.2
5. BCL2L2: BCL2 like 2 Chromosome 14; 14q11.2
6. BMP4: Bone Morphogenetic Protein 4 Chromosome 14; 14q22.2
7. CCNB1IP1: Cyclin B1 Interacting Protein 1 Chromosome 14; 14q11.2
8. CEBPE: CCAAT Enhancer Binding Protein Epsilon Chro- mosome 14; 14q11.2
9. CHGA: Chromogranin A Chromosome 14; 14q32.12
10. DICER1: Dicer 1, Ribonuclease III Chromosome 14; 14q-32.13
11. DLK1: Delta-like Non-Canonical Notch ligand 1 Chro- mosome 14; 14q32.2
12. EGLN3: Egl-9 Family Hypoxia-Inducible Factor 3 Chro- mosome 14; 14q13.1
13. ESR2: Estrogen Receptor 2 Chromosome 14; 14q23.2-q23.3
14. FANCM: FA Complementation Group M Chromosome 14; 14q21.2
15. FOS: Fos proto-oncogene, AP-1 Transcription Factor Subunit Chromosome 14; 14q24.3
16. FOXA1: Forkhead Box A1 Chromosome 14; 14q21.1
17. FOXG1: Forkhead Box G1 Chromosome 14; 14q12
18. FOXN3: Forkhead Box N3 Chromosome 14; 14q31.3-q32.11
19. GOLGA5: Golgin A5 Chromosome 14; 14q32.12
20. GPHN: Gephyrin Chromosome 14; 14q23.3-q24.1
21. GPX2: Glutathione Peroxidase 2 Chromosome 14; 14q-23.3
22. GZMB: Granzyme B Chromosome 14; 14q12
23. HIF1A: Hypoxia-Inducible Factor 1 Subunit Alpha Chromosome 14; 14q23.2
24. HSP90AA1: Heat Shock Protein 90 Alpha Family Class A Member 1 Chromosome 14; 14q32.31
25. IGH: Immunoglobulin Heavy Locus Chromosome 14; 14q32.33
26. IRF9: Interferon Regulatory Factor 9 Chromosome 14; 14q12
27. JAG2: Jagged Canonical Notch Ligand 2 Chromosome 14; 14q32.33
28. KTN1: Kinectin 1 Chromosome 14; 14q22.3
29. LGALS3: Galectin 3 Chromosome 14; 14q22.3
30. MAX: MYC Associated Factor X Chromosome 14; 14q23.3
31. MEG3: Maternally Expressed 3 Chromosome 14; 14q32.2
32. MIR127: microRNA 127 Chromosome 14; 14q32.2
33. MLH3: MutL Homolog 3 Chromosome 14; 14q24.3
34. MMP14: Matrix Metallopeptidase 14 Chromosome 14 ; 14q11.2
35. MTA1: Metastasis Associated 1 Chromosome 14; 14q32.33
36. MTHFD1: Methylenetetrahydrofolate Dehydro-genase, Cyclohydrolase, And Formyltetra hydro-fol- ate Synthetase 1 Chromosome 14; 14q23.3
37. NDRG2: NDRG Family Member 2 Chromosome 14; 14q11.2
38. NKX2-1: NK2 Homeobox 1 Chromosome 14 ; 14q13.3
39. NFKBIA: NFKB Inhibitor Alpha Chromosome 14; 14q13.2
40. NIN: Ninein Chromosome 14; 14q22.1
CONCLUSION
REFERENCES
Chromosome 15
Abstract
1. ADAM10: A Disintegrin and Metalloproteinase Domain-Containing Protein 10 Chromosome 15; 15q21.3-q22
2. ANXA2: Annexin A2 Chromosome 15; 15q22.2
3. ANP32A: Acidic Leucine-Rich Nuclear Phosphoprotein 32 Family Member A Chromosome 15; 15q23
4. AKAP13: A-kinase Anchor Protein 13 Chromosome 15; 15q25.3.
5. BUB1B: BUB1 Mitotic Checkpoint Serine/Threonine Ki-nase Beta Chromosome 15; 15q15.1.
6. BLM: Bloom Syndrome RecQ Like Helicase Chromosome 15; 15q26.1.
7. B2M: Beta-2-Microglobulin Chromosome 15; 15q21.1.
8. BCL2A1: B-Cell Lymphoma 2-Related Protein A1 Chromo-some 15; 15q25.1
9. C15orf65: Chromosome 15 Open Reading Frame 65 Chro- mosome 15; 15q21.3
10. CRTC3: CREB Regulated Transcription Co- Activator 3 Chromosome 15; 15q26.1
11. CYP19A1: Cytochrome P450 Family 19 Subfamily A Mem-ber 1 Chromosome 15; 15q21.2
12. CCNB2: Cyclin B2 Chromosome 15; 15q22.2
13. CA12: Carbonic Anhydrase 12 Chromosome 15; 15q22.2
14. CYP1A2: Cytochrome P450 family 1 subfamily A member 2 Chromosome 15; 15q24.1
15. CD276: Cluster of Differentiation 276 Chromosome 15; 15q24.1
16. CSK: C-terminal Src kinase Chromosome 15; 15q24.1
17. CYP1A1: Cytochrome P450 Family 1 Subfamily A member 1 Chromosome 15; 15q24.1
18. CYP11A1: Cytochrome P450 Family 11 Subfamilies A Member 1 Chromosome 15; 15q24.1
19. CHRNA5: Cholinergic Receptor Nicotinic Alpha 5 Sub-unit Chromosome 15; 15q25.1
20. CHRNA3: Cholinergic Receptor Nicotinic Alpha 3 Sub-unit Chromosome 15; 15q25.1
21. CRABP1: Cellular Retinoic Acid Binding Protein 1 Chromosome 15; 15q25.1
22. CHRNB4: Cholinergic Receptor Nicotinic Beta 4 Sub-unit Chromosome 15; 15q25.1
23. DLL4: Delta-like Canonical Notch ligand 4 Chromo-some 15; 15q15.1
24. DAPK2: Death-Associated Protein Kinase 2 Chromo-some 15; 15q22.31
25. FES: FES Proto-Oncogene, Tyrosine Kinase Chromo-some 15; 15q26.1
26. FURIN: Furin, Paired Basic Amino Acid Cleaving Enzyme Chromosome 15; 15q26.1
27. FANCI: Fanconi Anemia Complementation Group I Chromosome 15; 15q26.1
28. FGF7: Fibroblast Growth Factor 7 Chromosome 15; 15q21.2
29. GREM1: Gremlin 1, DAN Family BMP Antagonist Chro- mosome 15; 15q13.3
30. HMGN2P46: High Mobility Group Nucleosomal Binding Domain 2 Pseudogenes 46 Chromosome 15; 15q13.3
31. IDH2: Isocitrate Dehydrogenase [NADP [+]] 2 Chromo-some 15; 15q26.1
32. IMP3: IMP U3 Small Nucleolar Ribonucleoprotein 3 Chromosome 15; 15q24.2
33. IL16: Interleukin 16 Chromosome 15; 15q25.1
34. IQGAP1: IQ Motif Containing GTPase Activating Pro-tein 1 Chromosome 15; 15q26.1
35. IGF1R: Insulin-like Growth Factor 1 Receptor Chro- mosome 15; 15q26.3
36. KNL1: Kinetochore Scaffold 1 Chromosome 15; 15q15.1
37. KNSTRN:Kinetochore Localized Astrin [SPAG5] Binding Protein Chromosome 15; 15q15.1
38. MAP2K1: Mitogen-Activated Protein Kinase Kinase 1 Chromosome 15; 15q22.31
39. MIR627: microRNA 627 Chromosome 15; 15q15.1
40. MIR7-2: microRNA7-2 Chromosome 15; 15q26.1
41. NUTM1: NUT Midline Carcinoma Family Member 1 Chro- mosome 15; 15q14
42. NEDD4: NEDD4 E3 Ubiquitin-Protein Ligase/ Neural Pre-cursor Cell Expressed Developmentally Downregu-lated 4 Location; Chromosome 15; 15q21.3
43. NTRK3: Neurotrophic Receptor Tyrosine Kinase 3 Chromosome 15; 15q25.3
44. OCA2: OCA2 Oculocutaneous Albinism Type 2 Chromo-some 15; 15q12-q13.1
45. PML: Promyelocytic leukemia Chromosome 15; 15q24.1
46. PDCD7: Programmed Cell Death 7 Chromosome 15; 15q22.31
47. PRC1: Protein Regulator of Cytokinesis 1 Chromo-some 15; 15q26.1
48. PWAR1: Prader Willi/Angelman Region RNA 1 Chromo-some 15; 15q11.2
49. RAD51: RAD51 Recombinase Chromosome 15; 15q15.1
50. SIN3A: SIN3 Transcription Regulator Family Member A Chromosome 15; 15q24.2
51. SMAD6: SMAD Family Member 6 Chromosome 15; 15q24.2
52. SMAD3: SMAD Family Member 3 Chromosome 15; 15q22.33
53. SPRED1: Sprouty-related EVH1 Domain Containing 1 Chromosome 15; 15q14
54. SNRPN: Small Nuclear Ribonucleoprotein Poly-peptide N Chromosome 15; 15q11.2
55. TPM1: Tropomyosin 1 Chromosome 15; 15q22.2
56. TYRO3: TYRO3 Protein Tyrosine Kinase Chromosome 15; 15q15.1
57. TP53BP1: Tumor Protein p53 Binding Protein 1 Chromo-some 15; 15q15.3
58. THBS1: Thrombospondin 1 Chromosome 15; 15q14
59. TJP1: Tight Junction Protein 1 Chromosome 15; 15q13.1
60. TCF12: Transcription Factor 12 Chromosome 15; 15q21.3
CONCLUSION
REFERENCES
Chromosome 16
Abstract
1. ABCC1: ATP Binding Cassette Subfamily C Member 1 Chromosome 16; 16p13.11
2. AXIN 1: Axis Inhibition Protein Chromosome 16; 16p13.3
3. AMFR: Autocrine Motility Factor Receptor Chromo-some 16; 16q13
4. APRT: Adenine Phosphoribosyl Transferase Chromo-some 16; 16q24.3
5. ANKRD11: Ankyrin Repeat Domain-Containing Protein 11 Chromosome 16; 16q24.3
6. BANP: BTG3 Associated Nuclear Protein Chromosome 16; 16q24.2
7. BCAR1: Breast Cancer Anti-Estrogen Resistance Pro-tein 1 Chromosome 16; 16q23.1
8. CD19: B-Lymphocyte Antigen CD19 Chromosome 16; 16p11.2
9. CDH1: Cadherin-1 Chromosome 16; 16q22.1
10. CYLD: Ubiquitin Carboxyl-Terminal Hydrolase CYLD Chromosome 16; 16q12.1
11. CBFA2T3: CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3 Chromosome 16; 16q24.3
12. CBFB: Core-Binding Factor Subunit Beta Chromosome 16; 16q22.1
13. CIITA: class II Major Histocompatibility Complex Transactivator Chromosome 16; 16p13.13
14. CREBBP: CREB Binding Protein Chromosome 16; 16p13.3
15. CDH11: Cadherin 11 Chromosome 16; 16q21
16. CDR: Cerebellar Degeneration Related Protein 2 Ch- romosome 16; 16p12.2
17. CX3CL1: C-X3-C Motif Chemokine Ligand 1 Chromosome 16; 16q21
18. CCL22: C-C Motif Chemokine Ligand 22 Chromosome 16; 16q21
19. CCL17: C-C Motif Chemokine Ligand 17 Chromosome 16; 16q21
20. CDT1: Chromatin Licensing and DNA Replication Fac-tor 1 Chromosome 16; 16q24.3c
21. CYBA: Cytochrome b-245 Alpha Chain Chromosome 16; 16q24.2
22. CDH13: Cadherin 13 Chromosome 16; 16q23.3
23. CTCF: CCCTC-Binding Factor Chromosome 16; 16q22.1
24. CDH3: Cadherin 3 Chromosome 16; 16q22.1
25. E2F4: E2F Transcription Factor 4 Chromosome 16; 16q-22.1
26. ERCC4: ERCC Excision Repair 4, Endonuclease Catal-ytic Subunit Chromosome 16; 16p13.12
27. FUS: FUS RNA Binding Protein Chromosome 16; 16p11.2
28. FANCA: FA Complementation Group A Chromosome 16; 16q24.3
29. FOXC2: Forkhead Box C2 Chromosome 16; 16q24.1
30. HAS3: Hyaluronan Synthase 3 Chromosome 16; 16q22.1
31. HSD17B2: Hydroxysteroid 17-Beta Dehydrogenase 2 Chromosome 16; 16q23.3
32. HERPUD1: Homocysteine Inducible Er Protein With Ubiquitin-Like Domain 1 Chromosome 16; 16q13
33. IL21R: Interleukin 21 Receptor Chromosome 16; 16p12.1
34. ITGAM Integrin Subunit Alpha M Chromosome 16; 16p11.2
35. ITGAX: Integrin Subunit Alpha X Chromosome 16; 16p11.2
36. ITGAL: Integrin Subunit Alpha L Chromosome 16; 16p11.2
37. IL4R: Interleukin 4 Receptor Chromosome 16; 16p12.1
38. IL27: interleukin 27 Chromosome 16; 16p12.1-p11.2
39. IL32: interleukin 32 Chromosome 16; 16p13.3
40. IL17C: interleukin 17C Chromosome 16; 16q24.2
41. IRF8: Interferon Regulatory Factor 8 Chromosome 16; 16q24.1
42. MYH11: Myosin Heavy Chain 11 Chromosome 16; 16p13.11
43. MAF: MAF bZIP Transcription Factor Chromosome 16; 16q23.2
44. MAPK3: Mitogen-Activated Protein Kinase 3 Chromo-some 16; 16p11.2
45. MVP: Major Vault Protein Chromosome 16; 16p11.2
46. MSLN: Mesothelin Chromosome 16; 16p13.3
47. MMP2: Matrix Metallopeptidase 2 Chromosome 16; 16q12.2
48. MT2A: Metallothionein 2A Chromosome 16; 16q13
49. MT1G: Metallothionein 1G Chromosome 16; 16q13
50. MC1R: Melanocortin 1 Receptor Chromosome 16; 16q-24.3
51. NQO1: NAD(P)H Quinone Dehydrogenase 1 Chromosome 16; 16q22.1
52. NOD2: Nucleotide-Binding Oligomerization Domain Containing 2 Chromosome 16; 16q12.1
53. PYCARD: PYD and CARD Domain Containing Chromo-some 16; 16p11.2
54. PLK1: Polo Like Kinase 1 Chromosome 16; 16p12.2
55. PKD1: polycystin 1, Transient Receptor Potential Channel Interacting Chromosome 16; 16p13.3
56. PDPK1 : 3-Phosphoinositide Dependent Protein Kinase 1 Chromosome 16; 16p13.3
57. SNX29: Sorting Nexin 29 Chromosome 16; 16p13.13-p13.12
58. TNFRSF17: TNF Receptor Superfamily Member 17 Chro- mosome 16; 16p13.13
59. SOCS1: Suppressor of Cytokine Signaling 1 Chromo-some 16; 16p13.13
60. TSC2: TSC Complex Subunit 2 Chromosome 16; 16p13.3
61. SULT1A1: Sulfotransferase Family 1A Member 1 Chro- mosome 16; 16p11.2
62. USP7: Ubiquitin Specific Peptidase 7 Chromosome 16; 16p13.2
63. SSTR5: Somatostatin Receptor 5 Chromosome 16; 16p13.3
64. TOX3: TOX High Mobility Group Box Family Member 3 Chromosome 16; 16q12.1
65. RBL2: RB Transcriptional Corepressor like 2 Chromo-some 16; 16q12.2
66. TRADD: TNFRSF1A Associated Via Death Domain Chro- mosome 16; 16q22.1
67. TERF2: telomeric repeat binding factor 2 Chromo-some 16; 16q22.1
68. WWOX: WW Domain-Containing Oxidoreductase Chro- mosome 16; 16q23.1-q23.2
69. SLC7A5: Solute Carrier Family 7 Members 5 Chromo-some 16; 16q24.2
70. TUBB3: Tubulin Beta 3 Class III Chromosome 16; 16q24.3
CONCLUSION
REFERENCES
Chromosome 17
Abstract
1. ASPSCR1 - ASPSCR1 Tether for SLC2A4, UBX Domain-Con-taining Chromosome 17; 17q25.3
2. HLF - HLF Transcription Factor, PAR bzip Family Mem-ber Chromosome 17; 17q22
3. COL1A1 - Collagen Type I Alpha 1 Chain Chromosome 17; 17q21.33
4. ETV4 - ETS Variant Transcription Factor 4 Chromosome 17; 17q21.31
5. TAF15 - TATA-Box Binding Protein Associated Factor 15 Chromosome 17; 17q12
6. ERBB2 - Erb-b2 Receptor Tyrosine Kinase 2 Chromosome 17; 17q12
7. MAP2K4 - Mitogen-Activated Protein Kinase Kinase 4 Chromosome 17; 17p12
8. PER1 - Period Circadian Regulator Chromosome 17; 17p13.1
9. YWHAE- Tyrosine 3-Monooxygenase/Tryptophan 5-Mono-oxygenase Activation Protein Epsilon Chromo-some 17; 17p13.3
10. SRSF2 - Serine and Arginine-Rich Splicing Factor 2 Chromosome 17; 17q25.1
11. TP53 - Tumour Protein p53 Chromosome 17; 17p13.1
12. BRCA1 - BRCA1 DNA Repair Associated Chromosome 17; 17q21.31
13. CD68 - CD68 Molecule Chromosome 17; 17p13.1
14. SHMT1 - Serine Hydroxymethyltransferase 1 Chromo-some 17; 17p11.2
15. CLDN7 - Claudin 7 Chromosome 17; 17p13.1
16. TNFSF13 - TNF Superfamily Member 13 Chromosome 17; 17p13.1
17. GAS7 - Growth Arrest-Specific 7 Chromosome 17; 17p13.1
18. CCL2 - C-C Motif Chemokine Ligand 2 Chromosome 17; 17q12
19. STAT3 - Signal Transducer and Activator of Trans-cription 3 Chromosome 17; 17q21.2
20. BIRC5 - Baculoviral IAP Repeat Containing 5 Chromo-some 17; 17q25.3
21. TMC8 - Transmembrane Channel like 8 Chromosome 17; 17q25.3
22. SOCS3 - Suppressor of Cytokine Signaling 3 Chromo-some 17; 17q25.3
23. MIR10A - MicroRNA 10a Chromosome 17; 17q21.32
24. MAFG – MAF Bzip Transcription Factor G Chromosome 17; 17q25.3
25. FASN - Fatty Acid Synthase Chromosome 17; 17q25.3
26. SSTR2 – Somatostatin Receptor 2 Chromosome 17; 17q-25.1
27. MIR21 - MicroRNA 21 Chromosome 17; 17q23.1
28. CD79B - CD79B Molecule Chromosome 17; 17q23.3
29. GAS7 – Growth Arrest Specific 7 Chromosome 17; 17p13.1
30. CXCL16 – C-X-C Motif Chemokine Ligand 16 Chromosome 17; 17p13.2
31. HIC1 – HIC ZBTB Transcriptional Repressor 1 Chromo-some 17; 17p13.3
32. TOP2A - DNA Topoisomerase II Alpha Chromosome 17; 17q21.2
33. CCR7 - C-C Motif Chemokine Receptor 7 Chromosome 17; 17q21.2
34. DLX4 – Distal-Less Homeobox 4 Chromosome 17; 17q21.33
35. NGFR – Nerve Growth Factor Receptor Chromosome 17; 17q21.33
36. MSI2 – Musashi RNA Binding Protein 2 Chromosome 17; 17q22
37. FLCN – Folliculin Chromosome 17; 17p11.2
38. HOXB4 – Homeobox B4 Chromosome 17; 17q21.32
39. MIR10A – MicroRNA 10a Chromosome 17; 17q21.32
40. ITGB3 – Integrin Subunit Beta 3 Chromosome 17; 17q21.32
CONCLUSION
REFERENCES
Chromosome 18
Abstract
1. ADCYAP1: Adenylate Cyclase-Activating Polypeptide 1 Chromosome 18; 18p11.32
2. BCL2: BCL2 Apoptosis Regulator Chromosome 18; 18q-21.33
3. CDH2: Cadherin 2 Chromosome 18; 18q12.1
4. DCC: DCC Netrin 1 Receptor Chromosome 18; 18q21.2
5. EPB41L3: Erythrocyte Membrane Protein Band 4.1 like 3 Chromosome 18; 18p11.31
6. GATA6: GATA Binding Protein 6 Chromosome 18; 18q11.2
7. KDSR: 3-Ketodihydrosphingosine Reductase Chromo-some 18; 18q21.33
8. MALT1: MALT1 Paracaspase Chromosome 18; 18q21.32
9. MBD1: Methyl-CpG Binding Domain Protein 1 Chromo-some 18; 18q21.1
10. MBD2: Methyl-CpG Binding Domain Protein 2 Chromo-some 18; 18q21.2
11. MC2R: Melanocortin 2 Receptor Chromosome 18; 18p-11.21
12. MIB1: Mind Bomb E3 Ubiquitin-Protein Ligase 1 Chromosome 18; 18q11.2
13. MIR122: microRNA 122 Chromosome 18; 18q21.31
14. NFATC1: Nuclear Factor of Activated T Cells 1 Chromo-some 18; 18q23
15. PHLPP1: PH Domain And Leucine-Rich Repeat Protein Phosphatase 1 Chromosome 18; 18q21.33
16. POLI: DNA Polymerase Iota Chromosome 18; 18q21.2
17. RALBP1: ralA Binding Protein 1 Chromosome 18; 18p11.22
18. RBBP8: RB Binding Protein 8, Endonuclease Chromo-some 18; 18q11.2
19. ROCK1: Rho-associated Coiled-Coil Containing Pro-tein Kinase 1 Chromosome 18; 18q11.1
20. SERPINB2: Serpin Family B Member 2 Chromosome 18; 18q21.33-q22.1
21. SERPINB5: Serpin Family B Member 5 Chromosome 18; 18q21.33
22. SMAD2: SMAD Family Member 2 Chromosome 18; 18q21.1
23. SMAD4: SMAD Family Member 4 Chromosome 18; 18q21.2
24. SMAD7: SMAD Family Member 7 Chromosome 18; 18q21.1
25. SS18: SS18 Subunit of Baf Chromatin Remodeling Comp-lex Chromosome 18; 18q11.2
26. TCF4: Transcription Factor 4 Chromosome 18; 18q21.2
27. TNFRSF11A: TNF Receptor Superfamily Member 11a Chromosome 18; 18q21.33
28. TYMS: Thymidylate Synthetase Chromosome 18;18p11.32
29. YES1: YES Proto-Oncogene 1, Src Family Tyrosine Ki-nase Chromosome 18; 18p11.32
30. ZNF521: Zinc Finger Protein 521 Chromosome 18; 18q11.2
CONCLUSION
REFERENCES
Chromosome 19
Abstract
1. ApoE Gene: [Apo lipoprotein E] Chromosome 19; 19q13.2
2. ALX gene: [ALX Homeobox] Chromosome 19; 19q13.2
3. BAX: [Bcl2 Associated X] Chromosome 19; 19q13.33
4. Bcl2L12: [Bcl-2 Like Protein 12] Chromosome 19; 19q13.33
5. BCL3: [B-cell lymphoma 3] Chromosome 19; 19q13.32
6. BRD4: [Bromodomain-containing protein 4] Chromo-some 19; 19p13.12
7. CARM1: [Coactivator-associated arginine methyl-transferase 1] Chromosome 19; 19q13.2
8. CBLC: [CBL proto-oncogene C] Chromosome 19; 19q13.32
9. CCNE1: [Cyclin E] Chromosome 19; 19q13.41
10. CD22: [Cluster of differentiation-22] Chromosome 19; 19q13.12
11. CD3: [Cluster of differentiation-22] Chromosome 19; 19q13.41
12. TCF3: [Transcription Factor 3] Chromosome 19; 19p13.3
13. CEACAM1: [Carcinoembryonic antigen-related cell adhesion molecule 6] Chromosome 19; 19q13.2
14. CEACAM5: [Carcinoembryonic antigen-related cell adhesion molecule 5] Chromosome 19; 19q13.2
15. CEACAM6: [Carcinoembryonic antigen-related cell adhesion molecule 6] Chromosome 19; 19q13.2
16. AKT2: [AKT serine/threonine kinase 2] Chromosome 19; 19q13.1-13.2
17. SMARCA4: [SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 4] Chromosome 19; 19p
18. CIC: [Capicua Transcriptional Repressor] Chromo-some 19; 19q13.2
19. PPP2R1A: [Protein Phosphatase 2 Scaffold Subunit Aalpha] Chromosome 19; 19q13.41
20. ZNF331: [Zinc finger protein 331] Chromosome 19; 19q13.42
21. STK11: [Serine/threonine kinase 11] Chromosome 19; 19p13.3
22. ERCC2: [Excision repair cross-complementing rodent repair deficiency, group 2] Chromosome 19; 19q13.3
23. GDF15: [Growth differentiation factor 15] Chromo-some 19; 19p13.1-13.2
24. TGFB1: [Transforming growth factor, beta 1] Chro- mosome 19; 19q13.2
25. SPINT2: [Serine peptidase inhibitor Kunitz type 2] Chro- mosome 19; 19q13.2
26. CD70: [Cluster of Differentiation 70] Chromosome 19; 19p13
27. PDCD5: [Programmed cell death 5] Chromosome 19; 19q12-q1311
28. UHRF1: [Ubiquitin-like with Ph.D. and ring-finger domains 1] Chromosome 19; 19p13.3
29. KISS1R: [KISS1 Receptor] Chromosome 19; 19p13.3
30. ZBTB7A: [Zinc Finger and BTB Domain Containing 7A] Chromosome 19; 19p13.3
31. PEG3: [Paternally expressed gene 3] Chromosome 19; 19q13.43
32. NOP53: [Nucleolar protein 53] Chromosome 19; 19q13.33
33. IL11: [Interleukin 11] Chromosome 19 19q13.3-q13.4
34. FTL: [Ferritin light chain] Chromosome 19; 19q13.33
35. ERCC1: [Excision Repairs Cross-complementation Group 1] Chromosome 19; 19q13.32
36. XRCC1: [X-ray repair cross-complementing protein 1] Chromosome 19; 19q13.31
37. KLK6: [Kallikrein-6] Chromosome 19; 19q13.3 – 13.4
38. KLK10: [Kallikrein-10] Chromosome 19; 19q14.3
39. ANGPTL4: [Angiopoietin-like 4] Chromosome 19; 19q13.2
40. ACTN4: [α-Actinin] Chromosome 19; 19q13.2
CONCLUSION
REFERENCES
Chromosome 20
Abstract
1. Gene -TNFRSF6B; TNF Receptor Superfamily Member 6b Location -20q13.33
2. Gene -PCNA; Proliferating Cell-Nuclear Antigen. Location -20p12.3
3. Gene -GNAS; GNAS Complex Locus Location -20q13.32
4. Gene -SS18L1; SS18L1 subunit of BAF Chromatin Re-modeling Complex.Location -20q13.33
5. Gene -ASXL1; ASXL-Transcriptional Regulator 1. Location -20 q11.21
6. Gene -MYBL2; MYB Proto-Oncogene like 2Location -20q- 13.12.
7. Gene -MAFB; MAF bZIP Transcription Factor BLocation - 20q12
8. Gene -RASSF2; Ras Association Domain-Family Member-2 Location - 20p13
9. Gene -FOXA2; Forkhead Box A2Location - 20p11.21
10. Gene -PYGB; Glycogen-Phosphorylase BLocation - 20p11.21
11. Gene -NKX2-2; NK2 Homeobox 2.Location - 20p11.22
12. Gene -BMP2; Bone-Morphogenetic Protein 2.Location - 20p12.3
13. Gene -JAG1; Jagged Canonical Notch ligand 1. Loca- tion -20 p12.2
14. Gene -CDC25B; Cell Division Cycle 25B.Location - 20p13
15. Gene -HCK; HCKproto-Oncogene, Src-Family Tyrosine-Kinase.Location - 20q11.21
16. Gene -STK4; Serine/Threonine Kinase 4.Location -20q13.12
17. Gene -ASIP; Agouti Signaling Protein.Location -20q11.22
18. Gene -GHRH; Growth Hormone-Releasing Hormone-Location -20q11.23
19. Gene -TPX2; TPX2-Microtubule Nucleation-Factor- Location -20 q11.21
20. Gene -DNMT3B; DNA Methyltransferase 3 beta- Location -20q 11.21
21. Gene -TOP1; DNA-Topoisomerase I Location -20q12
22. Gene -SDC4; Syndecan 4 Location -20q13.12
23. Gene -BCL2L1; BCL2 like 1 Location -20q11.21
24. Gene -ITCH; itchy-E3 Ubiquitin-Protein Ligase Location -20 q11.22
25. Gene -E2F1; E2F-Transcription Factor1. Location -20q11.22
26. Gene -BIRC7; Baculoviral-IAP Repeat Containing7. Location -20q13.33
27. Gene -RTEL1; Regulator Of Telomere Elongation Helicase 1- Location -20q 13.33
28. Gene -TFAP2C; Transcription Factor AP-2 Gamma. Location - 20q13.31.
29. Gene -CTCFL; CCCTC-Binding Factor like. Location - 20q13.31.
30. Gene -SOX18; SRY-Box Transcription Factor 18. Location -20q- 13.33.
31. Gene -ADRM1; Adhesion Regulating Molecule 1. Loca-tion -20q13.33
32. Gene -GATA5; GATA Binding Protein 5. Location -20q13.33
33. Gene -ZNF217; Zinc-Finger Protein-217. Location -20q13.2
34. Gene -BCAS1; Breast-Carcinoma Amplified-Sequence1. Location -20q13.2
35. Gene -PTK6; Protein-Tyrosine Kinase6. Location -20q13.33
36. Gene -EEF1A2; eukaryotic-Translation Elongation-Factor1 Alpha2. Location -20q13.33
37. Gene -CSE1L; Chromosome Segregation 1-like. Loca-tion -20q13.13
38. Gene -AURKA; Aurora Kinase A. Location -20q13.2.
39. Gene -SLPI; Secretory Leukocyte Peptidase Inhibitor. Location -20q13.12.
40. Gene -NCOA3; Nuclear-Receptor Coactivator3. Loca-tion -20q13.12.
CONCLUSION
REFERENCES
Chromosome 21
Abstract
1. ADAMTS1 – ADAM Metallopeptidase with Thrombos-pondin Type 1 motif1 Chromosome 21; 21q21.3
2. ADARB1 - Adenosine Deaminase RNA specific B1 Chromo-some 21; 21q22.3
3. AIRE - Autoimmune Regulator Chromosome 21; 21q22.3
4. APP - Amyloid Beta Precursor Protein Chromosome 21; 21q21.3
5. B3GALT5 - Beta-1, 3 -Galactosyltransferase 5 Chromo-some 21; 21q22.2
6. BACH1 - BTB Domain and CNC Homolog 1 Chromosome 21; 21q21.3
7. BAGE - B Melanoma Antigen Chromosome 21; 21q11.1
8. BTG3 - BTG Anti-Proliferation Factor 3 Chromosome 21; 21q21.1
9. CBS - Cystathionine Beta-Synthase Chromosome 21; 21q22.3
10. CBR1 - Carbonyl Reductase 1 Chromosome 21; 21q22.12
11. CHAF1B - Chromatin Assembly Factor 1 subunit B Chromosome 21; 21q22.12-q22.13
12. CHODL – Chondrolectin Chromosome 21; 21q21.1
13. COL18A1 - Collagen type XVIII Alpha 1 chain Chromo-some 21; 21q22.3
14. COL6A1 - Collagen Type VI Alpha 1 Chain Chromosome 21; 21q22.3
15. CSTB - Cystatin B Chromosome 21; 21q22.3
16. CXADR - CXADR Ig-like Cell Adhesion Molecule Chro- mosome 21; 21q21.1
17. CYYR1 - Cysteine and Tyrosine rich 1 Chromosome 21; 21q21.3
18. DONSON - DNA Replication Fork Stabilization Factor DONSON Chromosome 21; 21q22.11
19. DYRK1A - Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A Chromosome 21; 21q22.13
20. ERG - ETS Transcription Factor ERG Chromosome 21; 21q22.2
21. ETS2 - ETS Proto-Oncogene 2, Transcription Factor Chromosome 21; 21q22.2
22. FAM3B - FAM3 Metabolism-Regulating Signaling Mole-cule B Chromosome 21; 21q22.3
23. GABPA - GA Binding Protein Transcription Factor Sub-unit Alpha Chromosome 21; 21q21.3
24. HUNK - Hormonally Up-Regulated Neu-Associated Ki-nase Chromosome 21; 21q22.11
25. ICOSLG - Inducible T cell Co-Stimulator Ligand Chromo-some 21; 21q22.3
26. IL10RB - Interleukin 10 Receptor Subunit Beta Chromo-some 21; 21q22.11
27. ITGB2 - Integrin Subunit Beta 2 Chromosome 21; 21q22.3
28. ITSN1 - Intersectin 1 Chromosome 21; 21q22.11
29. KCNE2 - Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2 Chromosome 21; 21q22.11
30. MX1 - MX Dynamin-like GTPase 1 Chromosome 21; 21q22.3
31. OLIG2 - Oligodendrocyte Transcription Factor 2 Chromo-some 21; 21q22.11
32. RUNX1 - RUNX Family Transcription Factor 1 Chromo-some 21; 21q22.12
33. S100B - S100 Calcium Binding Protein B Chromosome 21; 21q22.3
34. SOD1 - Superoxide Dismutase 1 Chromosome 21; 21q22.11
35. TIFF1 - Trefoil Factor 1 Chromosome 21; 21q22.3
36. TFF2 - Trefoil Factor 2 Chromosome 21; 21q22.3
37. TFF3 - Trefoil Factor 3 Chromosome 21; 21q22.3
38. TIAM1 - TIAM Rac1 Associated GEF 1 Chromosome 21; 21q22.11
39. TMPRSS2 - Transmembrane Serine Protease 2 Chromo-some 21; 21q22.3
40. TPTE – Transmembrane Phosphatase with TEnsin Ho-mology Chromosome 21; 21q11.2
41. TRMP2 - Transient Receptor Potential Cation Chan-nel Subfamily M Member 2 Chromosome 21; 21q22.3
42. U2AF1 - U2 Small Nuclear RNA Auxiliary Factor 1 Chro- mosome 21; 21q22.3
43. IFNAR2 - Interferon Alpha and Beta Receptor Subunit 2 Chromosome 21; 21q22.11
44. IGSF5 - Immunoglobulin Superfamily Member 5 Chro- mosome 21; 21q22.2
45. ABCG1 – ATP Binding Cassette Subfamily G Member 1 Chromosome 21; 21q22.3
46. ADAMTS5 - ADAM Metallopeptidase with Thrombo-spondin Type 1 Motif1 Chromosome 21; 21q21.3
47. ATP5PF - ATP Synthase Peripheral Stalk Subunit F6 Chromosome 21; 21q21.3
48. CLDN14 - Claudin 14 Chromosome 21; 21q22.13
49. CLDN17 - Claudin 17 Chromosome 21; 21q21.3
50. CLDN8 – Claudin 8 Chromosome 21; 21q22.11
51. CCT8 - Chaperonin containing TCP1 Subunit 8 Chromo-some 21; 21q21.3
52. COL6A2 - Collagen Type VI Alpha 2 Chain Chromosome 21; 21q22.3
53. CRYAA - Crystallin Alpha A Chromosome 21; 21q22.3
54. DIP2A - Disco Interacting Protein 2 Homolog A Chro-mosome 21; 21q22.3
55. DNMT3L - DNA Methyltransferase 3 like Chromosome 21; 21q22.3
56. DSCAM - DS Cell Adhesion Molecule Chromosome 21; 21q22.2
57. FTCD – Formimidoyl Transferase Cyclodeaminase Chromosome 21; 21q22.3
58. GART - Trifunctional Purine Biosynthetic Protein Adenosine-3 Chromosome 21; 21q22.11
59. HMGN1 - High Mobility Group Nucleosome Binding Domain 1 Chromosome 21; 21q22.2
60. HSF2BP - Heat Shock Transcription Factor 2 Binding Protein Chromosome 21; 21q22.3
61. HSPA13 - Heat Shock Protein Family A [Hsp70] Member 13 Chromosome 21; 21q11.2
62. IFNAR1 - Interferon Alpha and Beta Receptor Subunit 1 Chromosome 21; 21q22.11
63. IFNGR2 - Interferon Gamma Receptor 2 Chromosome 21; 21q22.11
CONCLUSION
REFERENCES
Chromosome 22
Abstract
1. ATF4: Activating Transcription Factor 4. Chromosome 22; 22q13.1
2. BCR: Breakpoint Cluster Region Protein. Chromosome 22; 22q11.3
3. BID: BH3 Interacting Domain Death Agonist. Chromo-some 22; 22q11.21
4. BIK: BCL-2 Interacting killer. Chromosome 22; 22q13.2
5. CBX7: Chromebox 7. Chromosome 22; 22q13.1
6. CHEK2: Checkpoint Kinase 2. Chromosome 22; 22q12.1
7. COMT: Catechol-O-Methyltransferase. Chromosome 22; 22q11.21
8. CRKL: CRK-like Proto-Oncogene. Chromosome 22; 22q-11.21
9. CYP2D: Cytochrome P450 2D6. Chromosome 22; 22q13.2
10. EP300: E1A Binding Protein P300/ Histone Acetyl-transferase P300. Chromosome 22; 22q13.2
11. EWSR1: Ewing’s Sarcoma RNA Binding Protein 1. Chromosome 22; 22q12.2
12. GSTT1: Glutathione S-Transferase Theta 1. Chromo-some 22; 22q11.23
13. HMOX1: Heme Oxygenase 1. Chromosome 22; 22q12.3
14. LGALS1: Lectin Galactoside-Binding Soluble 1. Chro- mosome 22; 22q13.1
15. LIF: Leukemia Inhibitory Factor 1. Chromosome 22; 22q12.2
16. MAPK1: Mitogen-Activated Protein Kinase 1. Chromo-some 22; 22q11.22
17. MKL1: Megakaryoblastic Leukemia. Chromosome 22; 22q13.1-q13.2
18. MLC1: Megalencephalic Leukoencephalopathy with Subcortical cysts 1. Chromosome 22; 22q13.33
19. MMP11: Matrix Metallopeptidase 11. Chromosome 22; 22q11.23
20. MN1: Meningioma 1. Chromosome 22; 22q12.1
21. MYH9: Myosin Heavy Chain 9. Chromosome 22; 22q12.3
22. NF2: Neurofibromin 2. Chromosome 22; 22q12.2
23. PATZ1: POZ/BTB And AT Hook Containing Zinc Finger 1. Chromosome 22; 22q12.2
24. PDGFB: Platelet Derived Growth Factor Subunit B. Chromosome 22; 22q13.1
25. PRAME: Preferentially Expressed Antigen in Mela-noma. Chromosome 22; 22q11.22
26. RAC2: Ras-Related C3 Botulinum Toxin Substrate 2. Chromosome 22; 22q13.1
27. RBX1: Ring Box 1. Chromosome 22; 22q13.2
28. SEPT5: SEPTIN 5. Chromosome 22; 22q11.21
29. SMARCB1: SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily B, Member 1. Chromosome 22; 22q11.23
30. SOX10: SRY-Box Transcription Factor 10. Chromosome 22; 22q13.1
31. SSTR3: Somatostatin Receptor 3. Chromosome 22; 22q-13.1
32. TIMP3: Tissue Inhibitor of Metalloproteinases 3. Chro- mosome 22; 22q12.3
33. TSPO: Translocator Protein. Chromosome 22; 22q13.2
34. XBP1: X-BOX Binding Protein. Chromosome 22; 22q12.1
35. XRCC6: X-Ray Repair Cross Complementing 6. Chromo-some 22; 22q13.2
36. ZNF3: Zinc Finger Protein 3. Chromosome 22; 22q12.1
CONCLUSION
REFERENCES
Chromosome X
Abstract
1. AGTR2 - Angiotensin II Receptor Type 2 Chromosome X; Xq23
2. BCOR - BCL-6 Corepressor Chromosome X; Xp11.4
3. CD99 - Cluster of Differentiation 99 Chromosome X; Xp22.33
4. AIFM1 - Apoptosis-Inducing Factor Mitochondria Asso-ciated 1 Chromosome X; Xq26.1
5. AMER1 - APC Membrane Recruitment Protein 1 Chromo-some X; Xq11.2
6. AR - Androgen Receptor Chromosome X; Xq12
7. ARAF- A-Raf or Serine/Threonine-Protein Kinase A-Raf Chromosome X; Xp11.3
8. ATP7A; ATPase Copper Transporting Alpha Chromo-some X; Xq21.1
9. ATRX - ATP-Dependent Helicase ATRX, X-Linked Helicase II, or X-Linked Nuclear Protein [XNP] Chromosome X; Xq21.1
10. COL4A5 - Collagen Type IV Alpha 5 Chain Chromosomes X; Xq22.3
11. CITED1 - Cbp/p300 Interacting Transactivator with Glu/Asp Rich Carboxy-Terminal Domain 1 Chromosome X; Xq13.1
12. COL4A6 - Collagen Type IV Alpha 6 Chain Chromosome X; Xq22.3
13. CTAG1B - Cancer/Testis Antigen 1B Chromosome X; Xq28
14. CXCR3 - C-X-C Motif Chemokine Receptor 3 Chromo-some X; Xq13.1
15. DKC1 - Dyskerin Pseudouridine Synthase Chromosome X; Xq28
16. ELF4 - E74 like ETS Transcription Factor 4 Chromo-some X; Xq26.1
17. FOXO4 - Forkhead Box O4 Chromosome X; Xq13.1
18. FOXP3 - Forkhead Box P3 Chromosome X; Xp11.23
19. G6PD - Glucose-6-Phosphate Dehydrogenase Chromo-some X; Xq28
20. GATA1 - GATA Binding Protein 1 Chromosome X; Xp11.23
21. GPC3 - Glypican 3 Chromosome X; Xq26.2
22. HDAC6 - Histone Deacetylase 6 Chromosome X; Xp11.23
23. HPCX - Hereditary Prostate Cancer, X-Linked Chromo-some X; Xq27-q28
24. HPRT1 - Hypoxanthine Phosphoribosyltransferase 1 Chromosome X ; Xq26.2-q26.3
25. IL13RA1 - Interleukin 13 Receptor Subunit Alpha 1 Chromosome X; Xq24
26. IL2RG - Interleukin 2 Receptor Subunit Gamma Chro- mosome X; Xq13.1
27. IRAK1 - Interleukin 1 Receptor-Associated Kinase 1 Chromosome X; Xq28
28. KDM5C - Lysine Demethylase 5C Chromosome X; Xp11.22
29. KDM6A - Lysine Demethylase 6A Chromosome X; Xp11.3
30. L1CAM - L1 Cell Adhesion Molecule Chromosome X; Xq28
31. MAGEA1 - MAGE Family Member A1 Chromosome X; Xq28
32. MAGEA2 - MAGE Family Member A2 Chromosome X; Xq28
33. MAGEA3 - MAGE Family Member A3 Chromosome X; Xq28
34. MAGEA4 - MAGE Family Member A4 Chromosome X; Xq28
35. MAGEB2 - MAGE Family Member B2 Chromosome X; Xp21.2
36. MCF2 - MCF.2 Cell Line Derived Transforming Sequence Chromosome X; Xq27.1
37. MED12 - Mediator Complex Subunit 12 Chromosome X; Xq13.1
38. MIR106A - microRNA 106a Chromosome X ; Xq26.2
39. MSN - Moesin Chromosome X Xq12
40. MECP2 - Methyl-Cpg Binding Protein 2 Chromosome X; Xq28
41. NONO - Non-POU Domain Containing Octamer Binding Chromosome X; Xq13.1
42. NOX1 - NADPH Oxidase 1 Chromosome X; Xq22.1
43. NROB1 - Nuclear Receptor Subfamily 0 Group B Mem-ber 1 Chromosome X; Xp21.2
44. PGK1 - Phosphoglycerate Kinase 1 Chromosome X; Xq-21.1
45. PHF6 - PHD % 6 Chromosome X; Xq26.2
46. PIM2 - Pim-2 Proto-Oncogene, Serine/Threonine Kinase Chromosome X; Xp11.23
47. PSMD10 - Proteasome 26s Subunit, Non-ATPase 10 Chromo-some X; Xq22.3
48. SEPTIN6 - Septin 6 Chromosome X; Xq24
49. SH2D1A - SH2 Domain-Containing Protein 1A Chromo-some X; Xq25
50. SRPX - Sushi Repeat-Containing Protein X-linked Chro- mosome X; Xp11.4
51. SSX1 - SSX Family Member 1 Chromosome X; Xp11.23
52. SSX2 - SSX Family Member 2 Chromosome X; Xp11.22
53. SSX4 - SSX Family Member 4 Chromosome X; Xp11.23
54. STAG2 - Stromal Antigen 2 Chromosome X ; Xq25
55. SUV39H1 - Suppressor Of Variegation 3-9 Homolog 1 Chromosome X; Xp11.23
56. TCEAL7 - Transcription Elongation Factor A like 7 Chromosome X; Xq22.2
57. TFE3 - Transcription Factor Binding to IGHM En-hancer 3 Chromosome X; Xp11.23
58. TIMP1 - TIMP Metallopeptidase Inhibitor 1 Chromo-some X; Xp11.3
59. TLR7 - Toll-like Receptor 7 Chromosome X ; Xp22.2
60. TSPYL2 - TSPY like 2 Chromosome X; Xp11.22
61. UPRT - Uracil Phosphoribosyltransferase Homolog Chromosome X; Xq13.3
62. XIAP - X-Linked Inhibitor of Apoptosis Chromosome X; Xq25
63. XIST - X - Inactive Specific Transcript Chromosome X; Xq13.2
64. ZRSR2 - Zinc Finger CCCH-type, RNA Binding Motif and Serine/Arginine-Rich 2 Chromosome X ; Xp22.2
65. ELK1 - ETS Transcription Factor ELK1 Chromosome X; Xp11.23
66. FLNA - Filamin A Chromosome X; Xq28
67. FMR1 - FMRP Translational Regulator 1 Chromosome X; Xq27.3
68. GAGE1 - G Antigen 1 Chromosome X; Xp11.23
CONCLUSION
REFERENCES
Chromosome Y
Abstract
1. AMELY -Amelogenin Y-Linked Chromosome Y; Yp11.2
2. ANT3 -Adenine Nucleotide Translocator 3 Chromo-some Y; Yp11.2
3. ASMT -Acetylserotonin O-Methyltransferase Chro-mosome Y; Yp-11.2
4. AZFc -Azoospermia Factor c Region Chromosome Y; Yq11
5. BPY1 -Basic Protein Y 1 Chromosome Y; Yq11.2
6. BPY2 -Basic Protein Y 2 Chromosome Y; Yq12.1
7. CD99 -Cluster of Differentiation 99 Chromosome Y; YP11.2
8. CDY1 -Chromodomain Protein, Y-Linked, 1 Chromosome Y; Yq11.23
9. CRLF2 -Cytokine Receptor-like Factor 2 Chromosome Y; Yp11.2
10. CSF2RA -Colony Stimulating Factor 2 Receptor Sub-unit Alpha Chromosome Y; Yp11.3
11. CYORF15B -Chromosome Y Open Reading Frame 15B Chromosome Y; Yq11.2
12. DAZ -Deleted in Azoospermia Chromosome Y; Yq11.223
13. DAZ1 -Deleted in Azoospermia 1 Chromosome Y; Yq-11.223
14. DAZ2 -Deleted in Azoospermia 2 Chromosome Y; Yq-11.223
15. DAZ3 -Deleted in Azoospermia 3 Chromosome Y; Yq11.23
16. DAZ4 -Deleted in Azoospermia 4 Chromosome Y; Yq11.23
17. DDX3Y -DEAD-Box RNA Helicase 3 [DDX3] Chromosome Y; Yq11.221
18. DYZ1 -Spermatogenic Failure Y-linked Chromosome Y; Yq11.221
19. EIF1AY -Eukaryotic Translation Initiation Factor 1A Y-linked Chromosome Y; Yq11.223
20. GBY -Gonadoblastoma Locus on Y Chromosome Y; Yq
21. GTPBP6 -GTP Binding Protein 6 Chromosome Y; Yp11.32
22. HSFY2 -Heat Shock Transcription Factor Y-Linked 2 Chromosome Y; Yq11.222
23. IL3RA -Interleukin 3 Receptor Alpha Subunit Chromo-some Y; Yp11.2
24. IL9R -Interleukin 9 Receptor Chromosome Y; Yq12
25. KDM5D -Lysine-Specific Demethylase 5D Chromosome Y; Yq11.223
26. NLGN4Y -Neuroligin 4, Y linked Chromosome Y; Yq11.221
27. PCDH11Y -Protocadherin 11, Y-linked Chromosome Y; Yp11.2
28. PRKY -Protein kinase Y-Linked Chromosome Y; Yp11.2
29. PRY -PTP-BL related Y Chromosome Y; Yq11.223
30. PRY2 -PTPBL-Related Gene on Y, 2 Chromosome Y; Yq-11.223
31. RBM1 -RNA Binding Motif Protein 1 Chromosome Y; Yq11.23
32. RBMIH -RNA Binding Protein Chromosome Y; Yq-11.23
33. RBMY -RNA Binding Motif on Y Chromosome Chromo-some Y; Yq11.223
34. RBMY1A1 -RNA Binding Motif Protein, Y Chromosome, Family Member A1 Chromosome Y; Yq11.223
35. RBMY1E -RNA Binding Motif Protein Y-Linked Family 1, Member E Chromosome Y; Yq11.223
36. RPS4Y -Ribosomal Protein S4 Y-linked Chromosome Y; Yp11.3
37. RPS4Y1 -Ribosomal Protein S4, Y-Linked, 1 Chromosome Y; Yp11.2
38. SMCY -Select Mouse cDNA Y Chromosome Y; Yq11.22
39. SRY -Sex Region Y Chromosome Y; Yp11.3
40. TGIF2LY -Transforming Growth Factor-Beta-Induced Factor 2-Like, Y-Linked Chromosome Y; Yp11.2
41. TMSB4Y -Thymosin beta 4 Y-Linked Chromosome Y; Yq11
42. TSPY -Testis specific protein Y-Linked Chromosome Y; Yp11.2
43. USP9Y -Ubiquitin Co-Terminal Hydrolyses Chromo-some Y; Yq11.2
44. UTY -Ubiquitously Transcribed Chromosome Y; Yq11
45. VAMP7 -Vesicle-Associated Membrane Protein 7 Chromosome Y; Yq12
46. VCY -Variably Charged, Y Chromosome Y; Yq11.221
47. VCY1B -Variable-Charged Y-Linked IB Chromosome Y; Yq11.221
48. XKRY2 -XK Related, Y-Linked 2 Chromosome Y; Yq11.222
49. ZFY -Zinc Finger Protein Y-Linked Chromosome Y; Yp-11.2
CONCLUSION
REFERENCES
Cancer Genes
(Volume 2)
Edited by
Satish Ramalingam
Department of Genetic Engineering, School of Bioengineering
SRM Institute of Science and Technology
Kattankulathur-603203
India
BENTHAM SCIENCE PUBLISHERS LTD.
End User License Agreement (for non-institutional, personal use)
This is an agreement between you and Bentham Science Publishers Ltd. Please read this License Agreement carefully before using the ebook/echapter/ejournal (“Work”). Your use of the Work constitutes your agreement to the terms and conditions set forth in this License Agreement. If you do not agree to these terms and conditions then you should not use the Work.
Bentham Science Publishers agrees to grant you a non-exclusive, non-transferable limited license to use the Work subject to and in accordance with the following terms and conditions. This License Agreement is for non-library, personal use only. For a library / institutional / multi user license in respect of the Work, please contact: [email protected].
Usage Rules:
All rights reserved: The Work is the subject of copyright and Bentham Science Publishers either owns the Work (and the copyright in it) or is licensed to distribute the Work. You shall not copy, reproduce, modify, remove, delete, augment, add to, publish, transmit, sell, resell, create derivative works from, or in any way exploit the Work or make the Work available for others to do any of the same, in any form or by any means, in whole or in part, in each case without the prior written permission of Bentham Science Publishers, unless stated otherwise in this License Agreement.You may download a copy of the Work on one occasion to one personal computer (including tablet, laptop, desktop, or other such devices). You may make one back-up copy of the Work to avoid losing it.The unauthorised use or distribution of copyrighted or other proprietary content is illegal and could subject you to liability for substantial money damages. You will be liable for any damage resulting from your misuse of the Work or any violation of this License Agreement, including any infringement by you of copyrights or proprietary rights.
Disclaimer:
Bentham Science Publishers does not guarantee that the information in the Work is error-free, or warrant that it will meet your requirements or that access to the Work will be uninterrupted or error-free. The Work is provided "as is" without warranty of any kind, either express or implied or statutory, including, without limitation, implied warranties of merchantability and fitness for a particular purpose. The entire risk as to the results and performance of the Work is assumed by you. No responsibility is assumed by Bentham Science Publishers, its staff, editors and/or authors for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products instruction, advertisements or ideas contained in the Work.
Limitation of Liability:
In no event will Bentham Science Publishers, its staff, editors and/or authors, be liable for any damages, including, without limitation, special, incidental and/or consequential damages and/or damages for lost data and/or profits arising out of (whether directly or indirectly) the use or inability to use the Work. The entire liability of Bentham Science Publishers shall be limited to the amount actually paid by you for the Work.
General:
Any dispute or claim arising out of or in connection with this License Agreement or the Work (including non-contractual disputes or claims) will be governed by and construed in accordance with the laws of Singapore. Each party agrees that the courts of the state of Singapore shall have exclusive jurisdiction to settle any dispute or claim arising out of or in connection with this License Agreement or the Work (including non-contractual disputes or claims).Your rights under this License Agreement will automatically terminate without notice and without the need for a court order if at any point you breach any terms of this License Agreement. In no event will any delay or failure by Bentham Science Publishers in enforcing your compliance with this License Agreement constitute a waiver of any of its rights.You acknowledge that you have read this License Agreement, and agree to be bound by its terms and conditions. To the extent that any other terms and conditions presented on any website of Bentham Science Publishers conflict with, or are inconsistent with, the terms and conditions set out in this License Agreement, you acknowledge that the terms and conditions set out in this License Agreement shall prevail.
Bentham Science Publishers Pte. Ltd.
80 Robinson Road #02-00
Singapore 068898
Singapore
Email: [email protected]
PREFACE
Cancer is a disease that affects millions of people worldwide, and the research for its cure has been ongoing for decades. In recent years significant progress has been made in identifying specific genes that are associated with an increased risk of developing cancer. In the continuation of our exploration of cancer-causing genes, we present volume 2 of our book. This volume picks up where volume 1 left off and delves into the genetic mutations that are located on chromosomes 13-22, as well as the X and Y chromosomes. We delve into the latest research on these genes, and the ways in which they contribute to cancer development. This volume provides a comprehensive overview of the cancer-causing genes located on chromosomes 13-22, as well as the X and Y, and serves as an invaluable resource for researchers, medical professionals, and anyone interested in the genetic basis of cancer. Together, both volumes provide a complete and in-depth understanding of the cancer-causing and their location on each chromosome.
Satish Ramalingam
Department of Genetic Engineering, School of Bioengineering
SRM Institute of Science and Technology
Kattankulathur-603203
India
List of Contributors
Abhishek MitraDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Advait SohanDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Aishwarya RajaDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Anusha MandemDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Chandrakumar SubramanianDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Harini HariharanDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Jayasree DebnathDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Kakaraparthi ShraddaDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Ravi GorDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Satish RamalingamDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Saurav PanickerDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Sayooj MadhusoodananDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Sivasankari RamaduraiDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Sowmiya SattanathanDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Thilaga ThirugnanamDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203
Chromosome 13
Aishwarya Raja1,Ravi Gor1,Saurav Panicker1,Satish Ramalingam1,*
1 Department of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India
Abstract
Chromosome 13 represents around 4 percent of the total cellular DNA with 115 million base pairs. It is home to various tumor suppressors and oncogenes, such as ADP ribosylation factors like GTPase-11 (ARL11), Retinoblastoma-1 (RB1), Ras-related protein Rap-2a (RAP2A), etc. Most of the somatic mutations in this chromo-some lead to cancer development. Further, deletion in this chromosome has been reported to support the cancer of leukemias, lymphomas, etc. In this chapter, we have tried to list cancer-causing genes and their possible oncogenesis in cancer development.
Keywords: ADP Ribosylation Factors Like GTPase-11, Cancer, Gene Deletion, Leukemia, Lymphomas, Oncogene, Ras-Related Protein Rap-2a, Retinoblastoma-1, Tumor Suppressor, Tumor Suppressor.
*Corresponding author Satish Ramalingam: Department of Genetic Engineering, SRM Institute of Science and Technology, Kattankulathur, India; E-mail:
[email protected]1. ABCC4- ATP Binding Cassette Subfamily C Member 4 Chromosome 13; 13q32.1
ATP-binding cassette sub-family C member 4 [ABCC4], also known as the multidrug resistance-associated protein 4 [MRP4] or multi-specific organic anion transporter B [MOAT-B], is a protein that in humans is encoded by the ABCC4 gene [1]. MRP4 confers resistance to acyclic nucleoside monophosphates, such as 9-[2-phosphonylmethoxyethyl] guanine [PMEG], and to the anti-HIV drug, 9-[2- phosphonylmethoxyethyl] adenine [PMEA] [2]. ABCC4 protein is present in humans' kidneys, liver, erythrocytes, adrenal glands, platelets, brain, and pancreas [3].
2. ARL11- ADP Ribosylation Factor like GTPase 11 Chromo-some: 13; 13q14.2
ARL11, also known as ADP-ribosylation factor-like tumor suppressor gene 1 [ARLTS1], is a member of the Arf-like [ARL] family of small GTP-binding prot-
eins that regulate diverse cellular processes, including vesicular trafficking, cytoskeletal organization, signaling, and ciliogenesis [4]. Further support for its tumor suppressor function has come from the finding that SNPs G446A [W149X] and T442C [C148R] in the ARL11 gene are associated with familial risk for chronic lymphocytic leukemia [CLL] and breast, prostate, and colorectal cancers [5].
Fig. (1))
This figure displays the loci of the genes from Chromosome 13 whose roles in cancer have been explained in this chapter. Sayooj Madhusoodanan designed this diagram.
3. AT7B - ATPase Copper Transporting Beta Chromosome: 13; 13q14.3
This gene (Fig. 1) is a P-type cation transport ATPase family member and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 puta-tive copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. The ATP7B product, a protein of 1465 amino acids [ATP7B], is expressed predominantly in humans’ liver, kidney, and placenta [6]. ATP7B was overexpressed in cisplatin-resistant prostate carcinoma PC-5 cells but not in the parental PC-3 cells and the revertant PC-5R cells. ATP7B may be involved in cisplatin resistance in some tumors [7].
4. BRCA2- Breast Cancer Gene 2 Chromosome 13; 13q13.1
This gene (Fig. 1) helps make a breast tumor suppressor protein. BRCA2 is involved in repairing damaged DNA by interacting with several other proteins in the nucleus to mend the damaged DNA. Mutations in this gene cause breast cancer [8]. The BRCA2 gene interacts with the recombinase enzyme and stimulates and maintains strand invasion [9]. It is expressed in breast tissues and other cells and destroys cells if the DNA is not repaired [10].
5. CCNA1- Cycline A1 Chromosome 13; 13q13.3
The Cycline A1 protein encoded by this gene (Fig. 1) is expressed in the testis, brain, and several leukemic cell lines and controls meiosis. This protein binds to Rb family proteins, the E2F1 transcription factor and the Kip/Cip family of CDK- inhibitor proteins [11]. They activate the subunits of enzymatic complexes with CDKs [12]. CCNA1 gene-associated diseases include myeloid leukemia and testicular cancer [13].
6. CDX2- Caudal Type Homeobox 2 Chromosome 13;13q12.2
This gene (Fig. 1) produces homeobox caudal transcriptional factor protein expre-ssed in the intestinal epithelial cells [14]. It helps in embryonic development, regulation, proliferation and differentiation of intestinal epithelial cells in the adult. CDX2 ectopic expression was found in acute myeloid leukemia [15]. CDX2 is used as a biological marker for detecting intestinal cancer [16]. It is found to be expressed only in intestinal cells.
7. COL4A2- Collagen, Type IV, Alpha 2 Chromosome 13; 13q34
This gene (Fig. 1) encodes for Collagen alpha-2[IV] chain protein which forms the glomerular basement membrane with COL4A1 and is present in all organs. It is also a biomarker for gastric cancer [17] and esophagus [18]. The C-terminal of the protein is an inhibitor of angiogenesis and tumor growth [19]. Mutations cause intracerebral hemorrhage [ICH] [20].
8. CUL4A- Cullin 4 Alpha Chromosome 13; 13q34
Cul 4a is a ubiquitin ligase component involved in DNA damage-response protein degradation [21]. Cullin 4A helps in cell growth, and development and is essential in chaperone-mediated ubiquitination, and it interacts with TP53 in carcinogenesis [22]. CUL4A inhibition was done in primary breast cancer cells by thalidomide which suppressed the EMT process that is induced by TGF-β1 [23].
9. DACH1- Dachshund Family Transcription Factor 1 Chromosome 13; 13q21
Reduced expression of the DACH1 gene was found in breast, prostate, lung, and brain tumors. Expression of cyclin D1 inhibited by the DACH1 gene reduces breast cancer cell growth [24]. The DACH1 gene has 12 exons and spans 400 kb [25]. DACH1 was highly expressed in adult and embryonic kidney tissues [26].
10. DLEU2- Deleted in Lymphocytic Leukemia 1 Chromo-some 13; 13q14
DLEU2 is a tumor suppressor gene found suppressed in leukemia and a negative regulator of cell proliferation [27]. Overexpression-induced pancreatic cancer cell proliferation and invasion and knockdown of DLEU2 impaired cell proliferation and invasion in vitro [28].
11. EDNRB- Endothelin Receptor Type B Chromosome 13; 13q22.3
This gene produces a protein called endothelin receptor type B, which helps in the signaling mechanism in cells [29]. EDNRB is a tumor suppressor gene down-regulated by promoter hypermethylation [30]. EDNRB gene transcription is down-regulated during tumor development, altering the ET1 signaling pathway [31].
12. EFNB2- Ephrin B2 Chromosome 13; 13q33.3
EFNB2 gene encodes for ephrin B2 protein [32]. It is also a receptor for Nipah and Hendra virus studies [33]. In uterine cervical cancer, this gene is used as a prognostic marker [34].
13. ERCC5 - Excision repair Cross-Complementing Repair 5 Chromosome 13; 13q33.1
This gene encodes DNA repair complementing XP-G cells [35]. This gene is involved in the repair of interstrand crosslinks and DNA repairs of UV-induced damage in cells [36]. Arthrogryposis multiplex congenital [AMC] is caused due to mutations in the ERCC5 gene [37]. Mutations in this gene also cause Xeroderma pigmentosum and Cockayne syndrome [38].
14. FGF9- Fibroblast Growth Factor 9 Chromo-some 13; 13q12.11
This gene produces a fibroblast growth factor family protein which helps in glial cell development [39]. FGF9 gene mutations cause diminished lung epithelial branching [40] and stimulate chondrocyte proliferation [41]. FGF9 gene mutati-ons also cause abnormal sex determinations [42].
15. FLT1- Fms Related Receptor Tyrosine Kinase 1 Chromo-some 13; 13q12.3
FLT1 gene encodes the vascular endothelial growth factor receptor 1 protein [43]. VEGF plays a vital role in the pathogenesis of hepatocellular carcinoma [HCC] [44]. VEGF-receptor genes were upregulated in canine tumor tissues but not normal tissues [45].
16. FLT3- Fms-Related Tyrosine Kinase 3 Chromosome 13; 13q12.2
Fms-like tyrosine kinase 3, called cluster of differentiation antigen 135 [CD135] protein, is produced by the FLT3 gene. This protein is a receptor for the cytokine Flt3 ligand. Mutations in this gene usually cause acute myeloid leukemia [AML] [46]. It consists of 5 immunoglobulin domains and is used as cell surface markers for hematopoietic progenitors in the bone marrow. FLT3 is a ligand-activated receptor tyrosine kinase expressed by hematopoietic stem and helps in the early development of myeloid and lymphoid lineage [47].
17. FOXO1- Forkhead Box O1 Chromosome 13; 13q14.11
Forkhead box protein O1 was produced by the FOXO1 gene [48]. Gluconeog-enesis and glycogenolysis regulation in adipogenesis was carried out by the FOXO1 gene [49]. This gene on high expression in human LNCaP prostate cancer cells leads to apoptosis [50]. The inactivation of the FOXO1 gene causes many types of human cancer [51].
18. GAS6 - Growth Arrest-Specific 6 Chromosome 13; 13q34
The Gas6 gene belongs to the vitamin K-dependent family of proteins that regul-ate cell proliferation, migration, and survival by Tyro3, Axl, and Mer rece-ptor binding [52]. It is a 678-amino acid protein with a high affinity to the Axl receptor [53]. Cell proliferation and differentiation, migration, and cellular signaling are regulated by Gas6 interaction with Tyro3, Axl, and Mer [TAM] receptors through its sex hormone-binding globulin [SHBG] [54].
19. GJB2- Gap Junction Protein Beta 2 Chromosome 13; 13q12.11
GJB2 gene encodes for connexin protein in humans. Connexin acts as a Tumor suppressor, and mutations in this gene result in different cancers, such as colorectal cancer, breast cancer, and bladder cancer [55]. Overexpression of this gene helps in cancer cell migration and invasion [56]. HMGB1- High Mobility Group Box 1 Chromosome 13; Location: 13q12.3. This gene encodes high-mobility group protein 1 [HMG-1] and amphoterin [57]. HMGB1 gene is used as a cancer target gene as it interacts with P53 [58]. Receptors such as TLR2, TLR4, and RAGE interacts with HMGB1 and helps in cell activation [59].
20. IFT88 – Intra Flagellar Transport Protein 88 Chromo-some 13; 13q12.11
Intraflagellar transport protein is encoded by the IFT88 gene [60]. This gene interacts with BAT2 and WDR62 genes, which are used in the localization of the IFT88 gene [61]. IFT88 protein is involved in the metabolic remodeling of cancer cells [62].
21. ING1- Inhibitor of Growth Protein1 Chromosome 13; 13q34
This gene can act as a tumor suppressor gene that induces cell growth arrest and apoptosis. This protein interacts with TP53 and helps in the p53 signaling pathway. Reduced expression of this gene is found in many cancers [63]. Interacts with p53/TP53 to negatively regulate the cell growth pathway by modulating p53- dependent transcriptional activation [64].
22. IRS2- Insulin Receptor Substrate 2 Chromosome 13; 13q34
IRS2 gene encodes insulin receptor substrate 2 for mediating insulin-like growth factors by acting as a receptor for tyrosine kinases and other effectors. The end product is phosphorylated by insulin receptor tyrosine kinase and interleukin 4 receptor-associated kinases during IL4 treatment [65]. Overexpression of IRS2 was found to promote tumor metastasis [66]. IRS1 has high expressivity in ductal carcinoma in situ [DCIS] and breast cancer cells with high invasiveness [67].
23. KL- Klotho Chromosome 13; 13q13.1
Klotho enzyme was encoded by KL gene1 and consisted of three divisions: α- klotho, β-klotho and γ-klotho [68]. The FGF23 gene was activated by α-klotho, and β-klotho activates the FGF19 and FGF21 genes [69]. Klotho is a β-glucu-ronidase that helps in aging and controlling insulin secretion [70].
24. KLF5- Krueppel- like Factor 5 Chromosome 13; Loca-tion: 13q22.1
KLF5 gene with RP1 enhances growth in breast cancer by suppressing p27kip [71]. Klf4 is a “Yamanaka factor” used to reprogram somatic cells to a pluripotent state [72]. KLF5 interacting with SET protein leads to negative regulation of KLF5 DNA binding, transactivation, and cell proliferation [73].
25. LAMP1- Lysosomal Associated Membrane Protein 1 Chromosome 13; Location: 13q34
LAMP1 is a transmembrane protein expressed at high levels in different tissue cell types and mainly in lysosomal membranes [74]. It is a 40kDa polypeptide with Polylactosamine to protect from lysosomal proteases [75]. It is found predominantly in pancreatic cancer, colon cancer, and melanoma and helps in cell adhesion and migration [76].
26. LATS2- Large Tumor Suppressor Kinase 2 Chromosome 13; Location: 13q12.11
It acts as a negative regulator of YAP1 in the Hippo signaling pathway that helps control growth and tumor suppression [77]. It is a 120kDa protein that localizes to centrosomes during interphase and early and late metaphase [78].
27. LCP1- Lymphocyte Cytosolic Protein 1 Chromosome 13; Location: 13q12.11
This gene encodes plastin 2 protein in humans [79]. These are actin-binding proteins upregulated in metastatic colon cancer cell line SW620 than SW480 cell lines [80]. This gene has been identified in various tumors such as prostate, colon, breast cancer, and oral squamous cell carcinomas [81].
28. LHFP- Lipoma HMGIC Fusion Partner Chromosome 13; Location: 13q13.3-q14.11
It is a part of the tetraspan transmembrane protein encoding genes such as LHFPL6 [LHFPL Tetraspan Subfamily Member 6] [82]. Mutations in this gene cause deafness in humans. Diseases caused by LHFPL6 include Gliosarcoma and Infiltrating Lipoma. LFHPL1 is a paralog of LHFPL6 gene [83].
29. LIG4- DNA Ligase 4 Chromosome 13; Location: 13q33.3
LIG4 gene in humans encodes for the DNA ligase 4 enzyme [84]. Lig4 interacts with XRCC4 and DNA-dependent protein kinase [DNA-PK] for the NHEJ pathway. Defects in this gene cause LIG4 syndrome. LIF4 stimulates the adenyl-ation of XRCC4 and XLF [85].
30. MIR1297 - microRNA 1297 Chromosome 13; Location: 13q-14.3
The MIR1297 gene acts as a tumor suppressor and is oncogenic in different conditions. For example, in lung cancer, it inhibits cell proliferation, whereas, in head and neck cancer, it promotes cell proliferation, cell migration, and tumor genesis [86]. MIR1297 also acts as a tumor suppressor in hepatocellular carcin-oma by apoptosis and targeting the HMGA2 gene. In breast cancer, MIR1297 acts as a prognostic cell marker [87].
31. OLFM4- Olfactomedin 4 Chromosome 13; Location: 13q-14.3
The protein encoded by this gene is oncogenic by promoting cell adhesion. It also acts as a marker for metastatic breast cancers [88]. This gene is highly expressed in colon cells and is cloned from myeloblasts. In hepatocellular carcinoma, this gene promotes tumor growth by GRIM19 expression [89].
32. PDX1- Pancreatic and Duodenal Homeobox 1 Chromo-some 13; Location: 13q12.1
This gene plays a vital role in pancreatic development and duodenal cell differe-ntiation. In gastric cells, the absence of PDX1-encoded protein leads to tumor growth. Expression of PDX1 is found to inhibit tumor cell proliferation [90]. This gene acts as a regulator for β cell maturation and function. In Pancreatic ductal adenocarcinoma [PDAC], PDX1 acts as a cancer cell marker, and it is also found to promote insulinoma in human insulinoma cell lines [91].
33. POSTN- Periostin Chromosome 13; Location: 13q13.3
Periostin is the protein encoded by the POSTN gene. In cancer cells, periostin acts as a ligand activating FAK-mediated pathways leading to increased cancer cell proliferation [92]. Periostin forms various isomers that are specific to colon, breast, and pancreatic cancers [93]. Periostin enhances tumor growth by suppo-rting M2 tumor-associated macrophages in signaling [94].
34. RAP2A- Ras-Related Protein Rap-2a Chromosome 13; Location: 13q32.1
RAP2A is an isoform or RAP2 which belongs to the GTPase family. Rap 2a is a RAS oncogenic family protein encoded by the RAP2A gene [95]. This gene helps in cell proliferation, migration, and other cellular activities. Rap 2 protein on activated by DNA damage and gets transcribed by p53. It also acts as a target for the p53 transcription factor [96].
35. RB1- Retinoblastoma Transcriptional Corepressor 1 Chromosome 13; Location: 13q14.2
RB1 encodes retinoblastoma protein [RB] and acts as a tumor suppressor in many cancers. In cancer treatment, retinoblastoma protein enhances the effects of CDK4 & CDK6 inhibitors [97]. RB1 tumor suppressor activity was studied in mice by Rb-knockdown in hair cells [98].
36. SACS- Sacsin Molecular Chaperone Chromosome 13; Location: 13q12.12
The SACS gene encodes Sacsin protein, consisting of HEPN and DnaJ domains. This gene is found in the skin, pancreas, and nerves. This gene interferes with Hsp and the ubiquitin-proteasome system [99]. Mutations in the SAC gene are rare and cause different cancer types. Mitotic delay causes tumor genesis [100].
37. SOX1- SRY-Box Transcription Factor 1 Chromosome 13; Location: 13q34
The protein encoded by the SOX1 gene is a transcriptional activator. The methyl-ated form of this gene promoter is used as a biomarker in studying hepatocellular carcinoma [101] and also acts as a tumor suppressor by inhibiting the WNT/β-catenin pathway in hepatocellular carcinoma [102].
38. SPRY2- Sprouty 2 Chromosome 13; Location: 13q31.1
SPRY2 gene encodes the sprouty 2 protein that interacts with Cas-Br-M in murine cells. This gene helps in K-rasG12D-mediated regulation in murine cells [103]. High gene expression in mice leads to inhibition of lung epithelium tumor genesis [104].
39. STARD13- StAR-Related Lipid Transfer Domain Protein 13 Chromosome 13; Location: 13q13.1-q13.2
The protein encoded by this gene activates GTPases, mostly Rho A and CDC42 [105]. It acts as a tumor suppressor gene in breast cancers by reacting with ceRNA networks [106].
CONCLUSION
We have listed cancer-causing genes from chromosome 13, and we found a combination of genes. The tumor suppressor, oncogene, chemo-resistant gene, etc., are present in chromosome 13. For example, the ARL11, a tumor suppressor gene, SNP mutation in this gene will lead to the development of breast cancer, prostate cancer, colorectal cancer, etc. A chemo-resistance gene is also present in this chromosome called ATP7B. Overexpression of the ATP7B gene promotes resistance against cisplatin treatment in prostate cancer patients. Several prognostic markers are also present in this chromosome, including the BRCA2, RB1, EFNB2, etc. It shows that this chromosome is responsible for and plays a role in a variety of cancer. Further, any abnormality in it may cause the development and progression of cancer.
REFERENCES
[1]Lee K, Belinsky MG, Bell DW, Testa JR, Kruh GD. Isolation of MOAT-B, a widely expressed multidrug resistance-associated protein/canalicular multispecific organic anion transporter-related transporter. Cancer Res 1998; 58(13): 2741-7.[PMID: 9661885][2]Schuetz JD, Connelly MC, Sun D, et al. MRP4: A previously unidentified factor in resistance to nucleoside-based antiviral drugs. Nat Med 1999; 5(9): 1048-51.[http://dx.doi.org/10.1038/12487] [PMID: 10470083][3]Borst P, de Wolf C, van de Wetering K. Multidrug resistance-associated proteins 3, 4, and 5. Pflugers Arch 2007; 453(5): 661-73.[http://dx.doi.org/10.1007/s00424-006-0054-9] [PMID: 16586096][4]Donaldson JG, Jackson CL. ARF family G proteins and their regulators: roles in membrane transport, development and disease. Nat Rev Mol Cell Biol 2011; 12(6): 362-75.[http://dx.doi.org/10.1038/nrm3117] [PMID: 21587297][5]Lakhotia SC, Mallik M, Singh AK, Ray M. The large noncoding hsrω-n transcripts are essential for thermotolerance and remobilization of hnRNPs, HP1 and RNA polymerase II during recovery from heat shock in Drosophila. Chromosoma 2012; 121(1): 49-70.[http://dx.doi.org/10.1007/s00412-011-0341-x] [PMID: 21913129][6]Terada K, Schilsky ML, Miura N, Sugiyama T. ATP7B (WND) protein. Int J Biochem Cell Biol 1998; 30(10): 1063-7.[http://dx.doi.org/10.1016/S1357-2725(98)00073-9] [PMID: 9785470][7]Li Z, Qiu M, Zeng Z, et al. Copper-transporting P-type adenosine triphosphatase (ATP7A) is associated with platinum-resistance in non-small cell lung cancer (NSCLC). J Transl Med 2012; 10(1): 21.[http://dx.doi.org/10.1186/1479-5876-10-21] [PMID: 22304828][8]Ren M, Qin H, Wu Q, Savage NM, George TI, Cowell JK. Development of ZMYM2-FGFR1 driven AML in human CD34+ cells in immunocompromised mice. Int J Cancer 2016; 139(4): 836-40.[http://dx.doi.org/10.1002/ijc.30100] [PMID: 27005999][9]An Y, Cai H, Zhang Y, et al. circZMYM2 Competed Endogenously with miR-335-5p to Regulate JMJD2C in Pancreatic Cancer. Cell Physiol Biochem 2018; 51(5): 2224-36.[http://dx.doi.org/10.1159/000495868] [PMID: 30537731][10]Juvet LK, Norderhaug IN. Genetic Tests for Breast and Ovarian Cancer https:// www. ncbi.nlm.nih.gov/books/NBK464763/2008.[11]Wang CX, Jimenez-Sainz J, Jensen RB, et al. The Post-Synaptic Function of Brca2. Sci Reports. 2019; 9: 1–8.[12]Friedenson B. The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers. BMC Cancer. 2007; 7: 1–11.[13]
