CARD11 Chromosome 7
Caspase recruitment domain family member 11
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What This Gene Does
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Membrane associated guanylate kinases|Caspase recruitment domain containing|PDZ domain containing|CBM complex"
Locus Type
gene with protein product
Location
7p22.2
Ensembl
ENSG00000198286
Associated Conditions (12)
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Immunodeficiency 11b with atopic dermatitis
Inborn genetic diseases
CARD11-related disorder
Malignant tumor of esophagus
Cervical cancer
Gastric cancer
Asthma
Splenomegaly
Osteopenia
Primary central nervous system lymphoma
Key Variants
RS1064795280
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
Health Risk
RS1064795307
Conflicting classifications of pathogenicity
Immunodeficiency 11b with atopic dermatitis, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
Health Risk
RS1178017685
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases
Health Risk
RS1221207399
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases
Health Risk
RS1223006535
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases
Health Risk
RS1300600302
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, Immunodeficiency 11b with atopic dermatitis, BENTA disease
Health Risk
RS138608490
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, CARD11-related disorder
Health Risk
RS1413809242
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
Health Risk
RS141681466
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
Health Risk
RS141751925
Conflicting classifications of pathogenicity
BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Immunodeficiency 11b with atopic dermatitis
Health Risk
RS143049136
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Immunodeficiency 11b with atopic dermatitis
Health Risk
RS144358235
Conflicting classifications of pathogenicity
BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, CARD11-related disorder
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS562372731 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS573740263 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases |
| RS576383569 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Inborn genetic diseases |
| RS747077612 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS747351557 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS750407488 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS751861897 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases |
| RS752956052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS753205129 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS753952757 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS754422604 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS754645078 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS757676098 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS764280787 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS764342695 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Immunodeficiency 11b with atopic dermatitis |
| RS764369378 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS764955786 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS767537938 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases |
| RS768061704 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Inborn genetic diseases |
| RS769577430 | Health Risk | Conflicting classifications of pathogenicity | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Immunodeficiency 11b with atopic dermatitis |
| RS770294938 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases |
| RS771790639 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS775014401 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Inborn genetic diseases |
| RS1423056320 | Health Risk | Likely pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Immunodeficiency 11b with atopic dermatitis |
| RS145474800 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Immunodeficiency 11b with atopic dermatitis |
| RS1779483440 | Health Risk | Likely pathogenic | — |
| RS1779626148 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS1780191273 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS2115038523 | Health Risk | Likely pathogenic | Immunodeficiency 11b with atopic dermatitis, Immunodeficiency 11b with atopic dermatitis |
| RS2115046344 | Health Risk | Likely pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS2115087153 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS2115094112 | Health Risk | Likely pathogenic | Immunodeficiency 11b with atopic dermatitis, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS757553187 | Health Risk | Likely pathogenic | — |
| RS950016126 | Health Risk | Likely pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS1404170214 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS1554271741 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS2115035271 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS2115044716 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS2115070994 | Health Risk | Pathogenic | BENTA disease, BENTA disease |
| RS2115075051 | Health Risk | Pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS2115075086 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS2535021241 | Health Risk | Pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS2535026065 | Health Risk | Pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS2535127927 | Health Risk | Pathogenic | Immunodeficiency 11b with atopic dermatitis, Immunodeficiency 11b with atopic dermatitis |
| RS387907351 | Health Risk | Pathogenic | BENTA disease, BENTA disease |
| RS387907352 | Health Risk | Pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, Asthma |
| RS397514686 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, Severe combined immunodeficiency due to CARD11 deficiency |
| RS542412710 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |
| RS571517554 | Health Risk | Pathogenic | BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease |
| RS750486472 | Health Risk | Pathogenic | Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency |