ILKAP

Chr 2

ILK associated serine/threonine phosphatase

Also known as: ILKAP2, ILKAP3, PP2C-DELTA, PP2CD, PPM1O

NCBI Gene: 80895 ENSG00000132323 UniProt: Q9H0C8

The protein encoded by ILKAP is a serine/threonine phosphatase that regulates cell cycle progression through dephosphorylation of substrates and modulates the integrin-linked kinase (ILK) signaling pathway, including inhibition of the ILK-GSK3B axis involved in cell adhesion and growth factor signaling. This gene is highly constrained against loss-of-function variants (pLI=0.98, LOEUF=0.30), but no established Mendelian disease associations have been reported to date.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

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

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429