CDKN2A Chromosome 9
Cyclin dependent kinase inhibitor 2A
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What This Gene Does
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
Associated Conditions (36)
Familial melanoma
Hereditary cancer-predisposing syndrome
CDKN2A-related disorder
Melanoma
cutaneous malignant
susceptibility to
2
Melanoma-pancreatic cancer syndrome
Melanoma and neural system tumor syndrome
Hereditary cancer
Neoplasm
Embryonal rhabdomyosarcoma
Alveolar rhabdomyosarcoma
Malignant tumor of urinary bladder
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Ovarian neoplasm
Malignant tumor of esophagus
Maffucci syndrome
+16 more conditions
Key Variants
RS1001405220
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1014358179
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1025333664
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, CDKN2A-related disorder
Health Risk
RS104894097
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS1057519881
Conflicting classifications of pathogenicity
Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
Health Risk
RS1057519882
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1060501260
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
Health Risk
RS1060501261
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome
Health Risk
RS1060501270
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1060501273
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1060504181
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504182
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Familial melanoma
Health Risk
All Variants (277)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554656624 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1563889584 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1563889685 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1563889847 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1563892715 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1587330309 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1587332338 | Health Risk | Pathogenic | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1819691962 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS1819725713 | Health Risk | Pathogenic | Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome |
| RS1819949737 | Health Risk | Pathogenic | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS1819962958 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2131095862 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2131112280 | Health Risk | Pathogenic | Familial melanoma, Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2131113797 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2131113914 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2131114005 | Health Risk | Pathogenic | Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome |
| RS2131148302 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489273553 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489273847 | Health Risk | Pathogenic | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS2489274805 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489275051 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489275147 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489275366 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489275539 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489275992 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489276462 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489290573 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome |
| RS2489290714 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489290856 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2489290903 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS2489291220 | Health Risk | Pathogenic | Melanoma, cutaneous malignant, susceptibility to |
| RS2489291303 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489291666 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489292008 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2489292482 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome |
| RS2489327427 | Health Risk | Pathogenic | Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome |
| RS398123152 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome |
| RS561034503 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS587782206 | Health Risk | Pathogenic | Familial melanoma, Hereditary cancer-predisposing syndrome, Squamous cell lung carcinoma |
| RS730881673 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome |
| RS730881675 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome |
| RS730881677 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS768966657 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma and neural system tumor syndrome |
| RS864622636 | Health Risk | Pathogenic | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma and neural system tumor syndrome |
| RS876658511 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876658556 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma-pancreatic cancer syndrome |
| RS878853647 | Health Risk | Pathogenic | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS886041162 | Health Risk | Pathogenic | Familial melanoma, Familial melanoma |
| RS587776716 | Health Risk | Pathogenic; risk factor | Melanoma, cutaneous malignant, susceptibility to |
| RS104894095 | Health Risk | Pathogenic/Likely pathogenic | Melanoma, cutaneous malignant, susceptibility to |