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 recruitm... See more...

Aliases for CARD11 Gene

Aliases for CARD11 Gene

  • Caspase Recruitment Domain Family Member 11 2 3 5
  • CARMA1 2 3 4
  • Caspase Recruitment Domain-Containing Protein 11 3 4
  • Bcl10-Interacting Maguk Protein 3 2 3
  • CARD-Containing MAGUK Protein 1 3 4
  • Carma 1 3 4
  • BIMP3 2 3
  • Caspase Recruitment Domain Family, Member 11 2
  • Card-Maguk Protein 1 2
  • IMD11A 3
  • CARD11 5
  • BENTA 3
  • IMD11 3
  • PPBL 3

External Ids for CARD11 Gene

Previous GeneCards Identifiers for CARD11 Gene

  • GC07M002590
  • GC07M002690
  • GC07M002719
  • GC07M002912

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]

CIViC Summary for CARD11 Gene

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 11. Among its related pathways are B cell receptor signaling pathway (KEGG) and NF-KappaB Family Pathway. Gene Ontology (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 Summary 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. Also activates the TORC1 signaling pathway.

Gene Wiki entry for CARD11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARD11 Gene

Genomics for CARD11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CARD11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARD11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARD11

Top Transcription factor binding sites by QIAGEN in the CARD11 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • Lmo2
  • NF-kappaB1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2

Genomic Locations for CARD11 Gene

Genomic Locations for CARD11 Gene
chr7:2,906,141-3,043,945
(GRCh38/hg38)
Size:
137,805 bases
Orientation:
Minus strand
chr7:2,945,709-3,083,579
(GRCh37/hg19)
Size:
137,871 bases
Orientation:
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:
    Q9BXL7-CAR11_HUMAN
    Recommended name:
    Caspase recruitment domain-containing protein 11
    Protein Accession:
    Q9BXL7
    Secondary Accessions:
    • A4D1Z7
    • Q2NKN7
    • Q548H3

    Protein attributes for CARD11 Gene

    Size:
    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). Interacts with BCL10; as part of a CBM (CARD11-BCL10-MALT1) complex involved in NF-kappa-B activation (PubMed:28628108).
    SequenceCaution:
    • 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

No data available for DME Specific Peptides for CARD11 Gene

Domains & Families for CARD11 Gene

Gene Families for CARD11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CARD11 Gene

InterPro:
Blocks:
  • CARD interaction domain
  • PDZ/DHR/GLGF domain
ProtoNet:

Suggested Antigen Peptide Sequences for CARD11 Gene

GenScript: Design optimal peptide antigens:
  • CARD-containing MAGUK protein 1 (CAR11_HUMAN)
genes like me logo Genes that share domains with CARD11: view

No data available for Graphical View of Domain Structure and 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. Also activates the TORC1 signaling pathway.

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 IEA,IPI 12154360
GO:0050700 CARD domain binding IBA,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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARD11

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. {ECO:0000269 PubMed:17287217}.

Subcellular locations from

COMPARTMENTS
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
cytosol 5
extracellular 4
nucleus 4
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CARD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005737 cytoplasm IBA,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

Pathways by source for CARD11 Gene

1 GeneGo (Thomson Reuters) pathway for CARD11 Gene
  • Immune response T cell receptor signaling pathway
4 Qiagen pathways for CARD11 Gene
  • CD28 Signaling in T-Helper Cell
  • NF-KappaB Family Pathway
  • PKC-Theta Pathway
  • TCR Signaling
1 Cell Signaling Technology pathway for CARD11 Gene

SIGNOR curated interactions for CARD11 Gene

Activates:
Is activated by:
Is inactivated 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 --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002377 immunoglobulin production IEA --
GO:0007165 signal transduction IEA --
GO:0007249 I-kappaB kinase/NF-kappaB signaling IMP 28628108
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

mRNA/cDNA for CARD11 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARD11

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: -
SP3:
SP4:

ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26
SP1:
SP2:
SP3:
SP4:

Relevant External Links for CARD11 Gene

GeneLoc Exon Structure for
CARD11

Expression for CARD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CARD11 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARD11

SOURCE GeneReport for Unigene cluster for CARD11 Gene:

Hs.648101

mRNA Expression by UniProt/SwissProt for CARD11 Gene:

Q9BXL7-CAR11_HUMAN
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, Burkitt's 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(3.2)
  • Lymph node(3.1)
  • Spleen(2.9)
  • Bone marrow(2.5)
  • Intestine(2.4)
  • Skin(2.2)
  • Kidney(2)

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

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • respiratory
Regions:
Thorax:
  • lung
Abdomen:
  • liver
  • spleen
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia CARD11 30 31
  • 99.36 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CARD11 30 31
  • 89.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CARD11 30 31
  • 89.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Card11 30 17 31
  • 87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CARD11 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100363332 30
  • 84.07 (n)
Chicken
(Gallus gallus)
Aves CARD11 30 31
  • 75.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 88 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii LOC557072 30
  • 67.45 (n)
card11 31
  • 66 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToMany
Species where no ortholog for CARD11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for CARD11 (if available)
TreeFam:
Gene Tree for CARD11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARD11: view image

Paralogs for CARD11 Gene

Paralogs for CARD11 Gene

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

  • CAR11_HUMAN
  • E2QRC0_HUMAN
  • H7BY05_HUMAN
genes like me logo Genes that share paralogs with CARD11: view

Variants for CARD11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARD11 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
636345 Uncertain Significance: not provided 2,910,039(-) G/C INTRON_VARIANT
636482 Uncertain Significance: not provided 2,934,598(-) A/C MISSENSE_VARIANT
636643 Uncertain Significance: not provided 2,917,393(-) G/A INTRON_VARIANT
636644 Conflicting Interpretations: Immunodeficiency 11; not provided 2,913,385(-) C/T MISSENSE_VARIANT
636702 Uncertain Significance: not provided 2,917,351(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CARD11 Gene

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

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

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)

Additional Variant Information for CARD11 Gene

Human Gene Mutation Database (HGMD)
CARD11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARD11

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

Disorders for CARD11 Gene

MalaCards: The human disease database

(26) MalaCards diseases for CARD11 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAR11_HUMAN
  • 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, ECO:0000269 PubMed:28628108}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 11 A (IMD11A) [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, ECO:0000269 PubMed:23561803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638]: An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. {ECO:0000269 PubMed:28628108}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CARD11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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
  3. Germline hypomorphic CARD11 mutations in severe atopic disease. (PMID: 28628108) Ma CA … Milner JD (Nature genetics 2017) 3 4
  4. 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
  5. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PMID: 23129749) Snow AL … Lenardo MJ (The Journal of experimental medicine 2012) 3 4

Products for CARD11 Gene

  • Signalway Proteins for CARD11

Sources for CARD11 Gene