Table 2.
Overview of the locus and genes included into array design
| Gene name | Gene description | Ensemble gene name | GRCh37 location |
|---|---|---|---|
| 1. 9p21.3 locus | Chromosome 9: 21,750,000–22,400,000 | ||
| Containing genes | |||
| CDKN2A | Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) | ENSG00000147889 | Chromosome 9: 21,967,752–21,995,300 |
| CDKN2B | Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) | ENSG00000147883 | Chromosome 9: 22,002,902–22,009,280 |
| CDKN2BAS | CDKN2B antisense RNA (non-protein coding) | ENSG00000240498 | Chromosome 9: 21,994,790–22,121,096 |
| 2. CDK pathway | |||
| CDK1 | Cyclin-dependent kinase 1 | ENSG00000170312 | Chromosome 10: 62,538,101–62,554,610 |
| CDK2 | Cyclin-dependent kinase 2 | ENSG00000123374 | Chromosome 12: 56,360,556–56,366,565 |
| CDK3 | Cyclin-dependent kinase 3 | ENSG00000108504 | Chromosome 17: 73,975,312–74,002,080 |
| CDK4 | Cyclin-dependent kinase 4 | ENSG00000135446 | Chromosome 12: 58,142,005–58,146,164 |
| CDK5 | Cyclin-dependent kinase 5 | ENSG00000164885 | Chromosome 7: 150,750,899–150,754,996 |
| CDK6 | Cyclin-dependent kinase 6 | ENSG00000105810 | Chromosome 7: 92,234,239–92,465,941 |
| CDK7 | Cyclin-dependent kinase 7 | ENSG00000134058 | Chromosome 5: 68,530,622–68,573,256 |
| CDKN2C | Cyclin-dependent kinase inhibitor 2C | ENSG00000123080 | Chromosome 1: 51,426,417–51,440,309 |
| CDKN2D | Cyclin-dependent kinase inhibitor 2D | ENSG00000129355 | Chromosome 19: 10,677,139–10,679,655 |
| TP53 | Tumor protein p53 | ENSG00000141510 | Chromosome 17: 7,565,257–7,590,863 |
| MDM1 | Mdm1 nuclear protein homolog (mouse) | ENSG00000111554 | Chromosome 12: 68,688,346–68,726,161 |
| MDM2 | Mdm2 p53 binding protein homolog (mouse) | ENSG00000135679 | Chromosome 12: 69,201,980–69,234,214 |
| 3. TGFbeta pathway | |||
| TGFB1 | Transforming growth factor, beta 1 | ENSG00000105329 | Chromosome 19: 41,836,651–41,859,816 |
| TGFB2 | Transforming growth factor, beta 2 | ENSG00000092969 | Chromosome 1: 218,519,391–218,617,959 |
| TGFB3 | Transforming growth factor, beta 3 | ENSG00000119699 | Chromosome 14: 76,424,442–76,448,092 |
| FBN1 | Fibrillin 1 | ENSG00000166147 | Chromosome 15: 48,700,505–48,937,918 |
| LTBP1 | Latent transforming growth factor beta binding protein 1 | ENSG00000049323 | Chromosome 2: 33,359,706–33,624,576 |
| THBS1 | Thrombospondin 1 | ENSG00000137801 | Chromosome 15: 39,873,280–39,889,665 |
| DCN | Decorin | ENSG00000011465 | Chromosome 12: 91,539,036–91,576,806 |
| ACVRL1 | Activin A receptor type II-like 1 | ENSG00000139567 | Chromosome 12: 52,301,202–52,317,145 |
| ACVR1B | Activin A receptor, type IB | ENSG00000135503 | Chromosome 12: 52,345,486–52,390,857 |
| TGFBR1 | Transforming growth factor, beta receptor I | ENSG00000106799 | Chromosome 9: 101,867,412–101,916,474 |
| TGFBR2 | Transforming growth factor, beta receptor II | ENSG00000163513 | Chromosome 3: 30,647,994–30,735,634 |
| TGFBR3 | Transforming growth factor, beta receptor III | ENSG00000069702 | Chromosome 1: 92,145,900–92,371,559 |
| ENG | Endoglin | ENSG00000106991 | Chromosome 9: 130,577,291–130,617,047 |
| SMAD2 | SMAD family member 2 | ENSG00000175387 | Chromosome 18: 45,359,466–45,456,926 |
| SMAD3 | SMAD family member 3 | ENSG00000166949 | Chromosome 15: 67,358,195–67,487,532 |
| SMAD4 | SMAD family member 4 | ENSG00000141646 | Chromosome 18: 48,556,583–48,611,415 |
| SMAD6 | SMAD family member 6 | ENSG00000137834 | Chromosome 15: 66,994,634–67,074,323 |
| SMAD7 | SMAD family member 7 | ENSG00000101665 | Chromosome 18: 46,446,224–46,477,081 |
| 4. Other candidate genes | |||
| ELN | Elastin | ENSG00000049540 | Chromosome 7: 73,442,119–73,484,237 |
| ACTA2 | Actin, alpha 2, smooth muscle, aorta | ENSG00000107796 | Chromosome 10: 90,694,831–90,751,147 |
| MYH11 | Myosin, heavy chain 11, smooth muscle | ENSG00000133392 | Chromosome 16: 15,796,992–15,950,890 |
| ACE | Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 | ENSG00000159640 | Chromosome 17: 61,554,432–61,599,209 |
| NOS | Nitric oxide synthase 3 (endothelial cell) | ENSG00000164867 | Chromosome 7: 150,688,083–150,711,676 |
| MMP2 | Matrix metallopeptidase 2 (gelatinase A, 72 kDa gelatinase, 72 kDa type IV collagenase) | ENSG00000087245 | Chromosome 16: 55,512,883–55,540,603 |
| MMP9 | Matrix metallopeptidase 9 (gelatinase B, 92 kDa gelatinase, 92 kDa type IV collagenase) | ENSG00000100985 | Chromosome 20: 44,637,547–44,645,200 |
| TIMP1 | TIMPmetallopeptidase inhibitor 1 | ENSG00000102265 | Chromosome X: 47,441,712–47,446,188 |
| MTHFR | Methylenetetrahydrofolate reductase (NAD(P)H) | ENSG00000177000 | Chromosome 1: 11,845,780–11,866,977 |
| ABCA1 | ATP-binding cassette, sub-family A (ABC1), member 1 | ENSG00000165029 | Chromosome 9: 107,543,283–107,690,518 |
| ABCB5 | ATP-binding cassette, sub-family B (MDR/TAP), member 5 | ENSG00000004846 | Chromosome 7: 20,654,830–20,816,658 |
| ABCC6 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | ENSG00000091262 | Chromosome 16: 16,243,422–16,317,328 |