CDKN2B Chromosome 9
Cyclin dependent kinase inhibitor 2B
Upload your DNA to see your personal genotypes for variants in CDKN2B.
What This Gene Does
This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Multiple endocrine neoplasia
Malignant tumor of breast
Key Variants
RS148421170
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia, Multiple endocrine neoplasia
Health Risk
RS1554661619
Likely pathogenic
Malignant tumor of breast, Malignant tumor of breast, Malignant tumor of breast
Health Risk
RS2489397090
Likely pathogenic
Malignant tumor of breast, Malignant tumor of breast
Health Risk
RS3217992
Likely pathogenic
Malignant tumor of breast, Malignant tumor of breast
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148421170 | Health Risk | Conflicting classifications of pathogenicity | Multiple endocrine neoplasia, Multiple endocrine neoplasia |
| RS1554661619 | Health Risk | Likely pathogenic | Malignant tumor of breast, Malignant tumor of breast, Malignant tumor of breast |
| RS2489397090 | Health Risk | Likely pathogenic | Malignant tumor of breast, Malignant tumor of breast |
| RS3217992 | Health Risk | Likely pathogenic | Malignant tumor of breast, Malignant tumor of breast |