RIPK2

Chr 8

receptor interacting serine/threonine kinase 2

Also known as: CARD3, CARDIAK, CCK, GIG30, RICK, RIP2

NCBI Gene: 8767 ENSG00000104312 UniProt: O43353 OMIM: 603455

This gene encodes a serine/threonine protein kinase that serves as a key effector in NOD1 and NOD2 innate immune signaling pathways, functioning as a scaffolding protein that activates NF-kappa-B transcription and immune responses to bacterial peptidoglycans. Mutations cause early-onset inflammatory bowel disease and immunodeficiency, following an autosomal recessive inheritance pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.441), indicating that complete loss of protein function is likely deleterious.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]

OMIM 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)

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P/LP submissions

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P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted