CARD10 Chromosome 22
Caspase recruitment domain family member 10
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What This Gene Does
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]
Gene Info
Gene Group
"Membrane associated guanylate kinases|Caspase recruitment domain containing"
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100065
Associated Conditions (7)
Immunodeficiency 89 and autoimmunity
Primary open angle glaucoma
Lung cancer
Cervical cancer
Thymoma
Colon adenocarcinoma
Hepatocellular carcinoma
Key Variants
RS748488870
Pathogenic
Immunodeficiency 89 and autoimmunity, Immunodeficiency 89 and autoimmunity
Health Risk
RS1057519378
risk factor
Primary open angle glaucoma, Primary open angle glaucoma
Health Risk
RS139006752
risk factor
Primary open angle glaucoma, Lung cancer, Cervical cancer
Health Risk
RS200148764
risk factor
Primary open angle glaucoma, Primary open angle glaucoma
Health Risk
RS201794655
risk factor
Primary open angle glaucoma, Primary open angle glaucoma
Health Risk
RS750643216
risk factor
Primary open angle glaucoma, Primary open angle glaucoma
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748488870 | Health Risk | Pathogenic | Immunodeficiency 89 and autoimmunity, Immunodeficiency 89 and autoimmunity |
| RS1057519378 | Health Risk | risk factor | Primary open angle glaucoma, Primary open angle glaucoma |
| RS139006752 | Health Risk | risk factor | Primary open angle glaucoma, Lung cancer, Cervical cancer |
| RS200148764 | Health Risk | risk factor | Primary open angle glaucoma, Primary open angle glaucoma |
| RS201794655 | Health Risk | risk factor | Primary open angle glaucoma, Primary open angle glaucoma |
| RS750643216 | Health Risk | risk factor | Primary open angle glaucoma, Primary open angle glaucoma |