CDKN2AIP

Chr 4

CDKN2A interacting protein

Also known as: XTBD2

NCBI Gene: 55602 ENSG00000168564 UniProt: Q9NXV6

The protein regulates DNA damage response through multiple signaling pathways involved in cell proliferation, apoptosis and senescence, including the p53-HDM2-p21 pathway. Mutations cause familial melanoma-pancreatic cancer syndrome, characterized by increased susceptibility to melanoma and pancreatic adenocarcinoma with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.33

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429