Gene
CARD11
caspase recruitment domain family member 11
- HGNC 16393(opens in a new tab)
- Ensembl gene ENSG00000198286(opens in a new tab)
- NCBI Gene 84433(opens in a new tab)
Summary
- Cytogenetic location
- 7p22.2
- Coordinates
- Chromosome 7: 2,906,142–3,043,867 (GRCh38)
- Exons
- 25 exons across 137.7 kb
- Protein
- 1,154 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- CARMA1, BIMP3
- MANE Select transcript
- ENST00000396946.9NM_032415.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
EBV-Driven Lymphoproliferation and CARD11 Immune Dysregulation
- B-cell expansion with NF-kB and T-cell anergy (BENTA)Autosomal dominant
Caused by gain-of-function changes in CARD11, it leads to an expansion of B cells, enlarged spleen and lymph nodes, and recurrent infections.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Recognition allows monitoring for infections and for progression to lymphoma.
Severe Combined Immunodeficiency
- Autosomal recessive
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How CARD11 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.3 kb of the gene's 137.7 kb; 3,465 of those bases code for the protein.
How a genome test reads CARD11
36
positions in CARD11 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 137.7 kb of CARD11, introns included, not only the 4.3 kb of exons.
Traits linked to CARD11
The Human Phenotype Ontology lists these as features of the rare conditions CARD11 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CARD11 gene: caspase recruitment domain family member 11. Retrieved 17 October 2026, from https://dantelabs.com/genes/card11
Dante Labs. CARD11 gene: caspase recruitment domain family member 11 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/card11
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