CDKN1A

cyclin dependent kinase inhibitor 1A

Summary

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]

Known Variants27 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38299636:36,644,386C/Aregulatory region variant
rs7335906:36,645,203T/Cregulatory region variant
rs7626236:36,645,466G/Aregulatory region variant
rs7626246:36,645,588A/G
rs23956556:36,645,696A/T
rs7305066:36,645,968G/Cregulatory region variant
rs31763366:36,648,816A/G
rs31763456:36,650,565G/Cregulatory region variant
rs49868666:36,651,889C/Tbenign
rs49868686:36,651,890G/Alikely benign
rs3750503466:36,651,937G/Auncertain significance
rs7652488796:36,651,952T/Guncertain significance
rs7628186506:36,651,959C/Tlikely benign
rs18012706:36,651,971C/Tsynonymous variantlikely benign
rs14077420556:36,652,020C/Tpathogenic
rs12608490456:36,652,024G/Cuncertain significance
rs10197896916:36,652,032G/Cuncertain significance
rs1387470216:36,652,043C/Tlikely benign
rs9849159586:36,652,118G/Clikely benign
rs349161936:36,652,129G/Alikely benign
rs1436765466:36,652,151A/Tlikely benign
rs21503141356:36,652,206C/Guncertain significance
rs1486795976:36,652,228G/Aconflicting classifications of pathogenicity
rs31763526:36,652,339C/Tintron variant
rs7636536806:36,653,525C/Guncertain significance
rs7810576086:36,653,544A/Glikely benign
rs10592346:36,653,597C/Tregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.