CARD10

Chr 22

caspase recruitment domain family member 10

Also known as: BIMP1, CARMA3, IMD89

NCBI Gene: 29775 ENSG00000100065 UniProt: Q9BWT7

CARD10 encodes a scaffold protein that activates NF-kappa-B signaling through BCL10, playing a critical role in immune system function. Mutations cause immunodeficiency with autoimmunity, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.449), suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 89 and autoimmunity

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

0.45

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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