Gene: CARD10

Alternate names for this Gene: BIMP1|CARMA3

Gene Summary: 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY028896.1, AY032928.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251973.10/ ENSP00000251973.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: caspase recruitment domain family member 10

Type of Gene: protein-coding

rs1057519378 in CARD10 gene and Glaucoma, Primary Open Angle PMID 27896285 2016 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.