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Aliases for CARD11 Gene

Aliases for CARD11 Gene

  • Caspase Recruitment Domain Family Member 11 2 3 5
  • Bcl10-Interacting Maguk Protein 3 2 3
  • CARD-Containing MAGUK Protein 1 3 4
  • Carma 1 3 4
  • CARMA1 3 4
  • Caspase Recruitment Domain-Containing Protein 11 3
  • Caspase Recruitment Domain Family, Member 11 2
  • Card-Maguk Protein 1 2
  • IMD11A 3
  • BENTA 3
  • BIMP3 3
  • IMD11 3
  • PPBL 3

External Ids for CARD11 Gene

Previous GeneCards Identifiers for CARD11 Gene

  • GC07M002590
  • GC07M002690
  • GC07M002719

Summaries for CARD11 Gene

Entrez Gene Summary for CARD11 Gene

  • 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]

GeneCards Summary for CARD11 Gene

CARD11 (Caspase Recruitment Domain Family Member 11) is a Protein Coding gene. Diseases associated with CARD11 include B-Cell Expansion With Nfkb And T-Cell Anergy and Immunodeficiency 11A. Among its related pathways are TCR signaling (REACTOME) and TCR signaling in naive CD4+ T cells. GO annotations related to this gene include guanylate kinase activity and CARD domain binding. An important paralog of this gene is CARD10.

UniProtKB/Swiss-Prot for CARD11 Gene

  • Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.

Gene Wiki entry for CARD11 Gene

Additional gene information for CARD11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARD11 Gene

Genomics for CARD11 Gene

Regulatory Elements for CARD11 Gene

Enhancers for CARD11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H002952 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +88.7 88688 4.9 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 FOS ATF7 CAVIN1 CARD11 LFNG GC07P002959 PIR49804
GH07H002950 1.2 FANTOM5 Ensembl ENCODE dbSUPER 18.3 +92.9 92862 1.4 ATF2 CARD11 LFNG GC07P002959 PIR49804
GH07H003193 1.1 Ensembl ENCODE 19.6 -150.7 -150731 2.5 ELF3 SOX13 CTCF FOXA2 JUN MAX ZNF266 SIN3A CEBPG BMI1 CARD11 BRAT1 CHST12 EIF3B SDK1 LOC105375132 LOC100129603 NUDT1 ENSG00000231892 GC07P003179
GH07H002708 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +333.8 333764 2.7 HDGF PKNOX1 ZFP64 SIN3A ZNF143 ZNF207 ATF7 RUNX3 DEK PAF1 AMZ1 TTYH3 CARD11 GNA12 LFNG GC07P002723
GH07H003090 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.1 -49.6 -49620 6.6 BATF ZNF623 SP1 IKZF1 EED RUNX3 IKZF2 CREM SPI1 CARD11 LOC101927256 ENSG00000228334 PIR35323
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CARD11 on UCSC Golden Path with GeneCards custom track

Promoters for CARD11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for CARD11 Gene

Genomic Locations for CARD11 Gene
137,871 bases
Minus strand

Genomic View for CARD11 Gene

Genes around CARD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARD11 Gene

Proteins for CARD11 Gene

  • Protein details for CARD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Caspase recruitment domain-containing protein 11
    Protein Accession:
    Secondary Accessions:
    • A4D1Z7
    • Q2NKN7
    • Q548H3

    Protein attributes for CARD11 Gene

    1154 amino acids
    Molecular mass:
    133284 Da
    Quaternary structure:
    • Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB. CARD11 and BCL10 bind to each other by CARD-CARD interaction. Interacts (via PDZ domain) with DPP4 (via cytoplasmic tail).
    • Sequence=AAG53402.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI11720.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ96893.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAL23962.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CARD11 Gene

neXtProt entry for CARD11 Gene

Post-translational modifications for CARD11 Gene

  • Phosphorylation at Ser-559, Ser-644 and Ser-652 by PRKCB and PRKCQ leads to a shift from an inactive to an active form that activates the NF-kappa-B signaling.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARD11 Gene

Antibody Products

  • R&D Systems Antibodies for CARD11 (CARD11/CARMA1)
  • Cell Signaling Technology (CST) Antibodies for CARD11 (CARD11)
  • Abcam antibodies for CARD11
  • Santa Cruz Biotechnology (SCBT) Antibodies for CARD11

No data available for DME Specific Peptides for CARD11 Gene

Domains & Families for CARD11 Gene

Gene Families for CARD11 Gene

Protein Domains for CARD11 Gene

Suggested Antigen Peptide Sequences for CARD11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CARD11: view

No data available for UniProtKB/Swiss-Prot for CARD11 Gene

Function for CARD11 Gene

Molecular function for CARD11 Gene

UniProtKB/Swiss-Prot Function:
Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.

Phenotypes From GWAS Catalog for CARD11 Gene

Gene Ontology (GO) - Molecular Function for CARD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity NAS 11278692
GO:0005515 protein binding IPI 16809782
GO:0050700 CARD domain binding IPI 11278692
genes like me logo Genes that share ontologies with CARD11: view
genes like me logo Genes that share phenotypes with CARD11: view

Human Phenotype Ontology for CARD11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CARD11 Gene

MGI Knock Outs for CARD11:

miRNA for CARD11 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CARD11 Gene

Localization for CARD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARD11 Gene

Cytoplasm. Membrane raft. Note=Colocalized with DPP4 in membrane rafts.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARD11 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for CARD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005737 cytoplasm IEA,IDA 12154360
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CARD11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CARD11 Gene

Pathways & Interactions for CARD11 Gene

genes like me logo Genes that share pathways with CARD11: view

SIGNOR curated interactions for CARD11 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CARD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001819 positive regulation of cytokine production IMP 12154360
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002377 immunoglobulin production IEA --
GO:0007165 signal transduction IEA --
GO:0030183 B cell differentiation IEA --
genes like me logo Genes that share ontologies with CARD11: view

Drugs & Compounds for CARD11 Gene

(2) Additional Compounds for CARD11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CARD11: view

Transcripts for CARD11 Gene

Unigene Clusters for CARD11 Gene

Caspase recruitment domain family, member 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CARD11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a ·
SP1: - - -
SP2: -

ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26

Relevant External Links for CARD11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CARD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CARD11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CARD11 Gene

This gene is overexpressed in Whole Blood (x12.0), Spleen (x8.1), and Small Intestine - Terminal Ileum (x4.7).

Protein differential expression in normal tissues from HIPED for CARD11 Gene

This gene is overexpressed in Urinary Bladder (17.2), Prostate (15.8), and Peripheral blood mononuclear cells (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CARD11 Gene

NURSA nuclear receptor signaling pathways regulating expression of CARD11 Gene:


SOURCE GeneReport for Unigene cluster for CARD11 Gene:


mRNA Expression by UniProt/SwissProt for CARD11 Gene:

Tissue specificity: Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in promyelocytic leukemia HL-60 cells, chronic myelogenous leukemia K-562 cells, Burkitts lymphoma Raji cells and colorectal adenocarcinoma SW480 cells. Not detected in HeLaS3, MOLT-4, A-549 and G431 cells.

Evidence on tissue expression from TISSUES for CARD11 Gene

  • Blood(2.8)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CARD11 Gene

Germ Layers:
  • endoderm
  • mesoderm
  • digestive
  • immune
  • lymphatic
  • respiratory
  • lung
  • liver
  • spleen
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with CARD11: view

No data available for Protein tissue co-expression partners for CARD11 Gene

Orthologs for CARD11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARD11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CARD11 33 34
  • 99.36 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 95 (a)
-- 34
  • 85 (a)
(Bos Taurus)
Mammalia CARD11 33 34
  • 89.91 (n)
(Canis familiaris)
Mammalia CARD11 33 34
  • 89.37 (n)
(Mus musculus)
Mammalia Card11 33 16 34
  • 87 (n)
(Monodelphis domestica)
Mammalia CARD11 34
  • 86 (a)
(Rattus norvegicus)
Mammalia LOC100363332 33
  • 84.07 (n)
(Gallus gallus)
Aves CARD11 33 34
  • 75.34 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
-- 34
  • 74 (a)
(Danio rerio)
Actinopterygii LOC557072 33
  • 67.45 (n)
card11 34
  • 66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
Species where no ortholog for CARD11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARD11 Gene

Gene Tree for CARD11 (if available)
Gene Tree for CARD11 (if available)

Paralogs for CARD11 Gene

Paralogs for CARD11 Gene

(2) SIMAP similar genes for CARD11 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CARD11: view

Variants for CARD11 Gene

Sequence variations from dbSNP and Humsavar for CARD11 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs387907351 Pathogenic, B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] 2,944,495(-) GAACG(A/G)GGTCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs387907352 Pathogenic, B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] 2,944,529(-) AGGAA(A/G)GCCAC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs397514686 Pathogenic 2,915,243(-) AGAAG(C/T)AGGAA reference, stop-gained
rs571517554 Pathogenic 2,944,528(+) CGTGG(C/T)CTTCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs794729673 Pathogenic 2,947,649(-) TCAGT(A/G)TAAGG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CARD11 Gene

Variant ID Type Subtype PubMed ID
nsv950794 CNV deletion 24416366
nsv605874 CNV gain 21841781
nsv605873 CNV gain 21841781
nsv528122 CNV loss 19592680
nsv526132 CNV loss 19592680
nsv464260 CNV gain 19166990
nsv366076 CNV insertion 16902084
nsv1142484 CNV tandem duplication 24896259
nsv1132633 CNV duplication 24896259
nsv1117457 CNV tandem duplication 24896259
nsv1076610 CNV duplication 25765185
nsv1075002 CNV deletion 25765185
nsv1073628 CNV deletion 25765185
nsv1025727 CNV gain 25217958
esv3891011 CNV gain 25118596
esv3611860 CNV loss 21293372
esv3611859 CNV loss 21293372
esv3611858 CNV gain 21293372
esv3571563 CNV loss 25503493
esv2733869 CNV deletion 23290073
esv2733868 CNV deletion 23290073
esv2733867 CNV deletion 23290073
esv2733866 CNV deletion 23290073
esv2733865 CNV deletion 23290073
esv2660422 CNV deletion 23128226
esv2233828 CNV deletion 18987734
esv21606 CNV loss 19812545

Variation tolerance for CARD11 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CARD11 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARD11 Gene

Disorders for CARD11 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CARD11 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
b-cell expansion with nfkb and t-cell anergy
  • persistent polyclonal b-cell lymphocytosis
immunodeficiency 11a
  • immunodeficiency 11
immunodeficiency 11b with atopic dermatitis
benta disease
  • b-cell expansion with nf-kb and t-cell anergy disease
persistent polyclonal b-cell lymphocytosis
  • ppbl
- elite association - COSMIC cancer census association via MalaCards


  • B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452]: An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. {ECO:0000269 PubMed:23129749}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 11 (IMD11) [MIM:615206]: An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. {ECO:0000269 PubMed:23374270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CARD11

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CARD11: view

No data available for Genatlas for CARD11 Gene

Publications for CARD11 Gene

  1. Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation. (PMID: 11356195) Gaide O … Tschopp J (FEBS letters 2001) 2 3 4 22 60
  2. CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B. (PMID: 11278692) Bertin J … Alnemri ES (The Journal of biological chemistry 2001) 2 3 4 60
  3. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. (PMID: 23374270) Stepensky P … Warnatz K (The Journal of allergy and clinical immunology 2013) 3 4 60
  4. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PMID: 23129749) Snow AL … Lenardo MJ (The Journal of experimental medicine 2012) 3 4 60
  5. The protein kinase C-responsive inhibitory domain of CARD11 functions in NF-kappaB activation to regulate the association of multiple signaling cofactors that differentially depend on Bcl10 and MALT1 for association. (PMID: 18625728) McCully RR … Pomerantz JL (Molecular and cellular biology 2008) 3 22 60

Products for CARD11 Gene

Sources for CARD11 Gene

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