GENE REFERENCE / HGNC:16393

CARD11

caspase recruitment domain family member 11

protein-coding gene7p22.2Gene information

What does this gene do?

The CARD11 gene provides instructions for making a protein involved in the function of immune system cells called lymphocytes, particularly certain types called T cells and B cells. These cells identify foreign substances such as bacteria, viruses, and fungi and defend the body against infection. When T or B cells recognize a foreign substance, the CARD11 protein is turned on (activated) and attaches (binds) to two other proteins, BCL10 and MALT1, to form the CBM signalosome complex. This complex in turn activates other protein complexes called nuclear factor-kappa-B (NF-κB) and mTOR complex 1 (mTORC1), which are important for cellular signaling. NF-κB and mTORC1 signaling direct the development and function of T and B cells so they can support an immune response against foreign invaders.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-10.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
BENTA diseaseMONDO:0014645 · Evaluated 2022-03-15	Autosomal dominant	DefinitiveAntibody Deficiencies Gene Curation Expert Panel
severe combined immunodeficiency due to CARD11 deficiencyMONDO:0014081 · Evaluated 2022-03-15	Autosomal recessive	DefinitiveAntibody Deficiencies Gene Curation Expert Panel
immunodeficiency 11b with atopic dermatitisMONDO:0054697 · Evaluated 2022-03-15	Autosomal dominant	DefinitiveAntibody Deficiencies Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,462
Submissions for variants in or overlapping this gene: 2,142
Submissions explicitly reporting this gene: 2,044
Alleles reported pathogenic / likely pathogenic: 59
VariationIDs with uncertain significance: 554
VariationIDs with conflicting classifications: 87

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CARD11?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 59 alleles in CARD11 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CARD11.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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