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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
  • 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 11. Among its related pathways are RET signaling and Immune response NFAT in immune response. 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

No data available for 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
GH07F003193 0.8 Ensembl ENCODE 19.6 -150.7 -150731 2.5 SOX13 ELF3 CTCF JUN MAX ZNF266 CEBPG YBX1 PLRG1 ETS1 CARD11 LOC105375132 SDK1 LOC100129603 NUDT1 ENSG00000231892 GC07P003179
GH07F003103 0.2 Ensembl 19 -60.1 -60056 0.4 BCOR ZMYM3 KDM1A CARD11 LOC105375130 GC07M003127
GH07F002950 1.1 FANTOM5 Ensembl ENCODE 18.3 +92.8 92845 1.8 ZNF316 GATA3 CBX5 MAFG DPF2 EMSY MAFK CARD11 LFNG GC07P002959 PIR49804
GH07F002952 1.5 FANTOM5 Ensembl ENCODE 17.6 +88.7 88688 4.9 HDGF ATF1 GATA2 FOS KLF13 NCOA1 CREB3 MEF2D SMARCA4 PBX2 CARD11 LFNG GC07P002959 PIR49804
GH07F003066 1.1 FANTOM5 Ensembl ENCODE 16 -25.2 -25170 4.9 ZSCAN5A HDAC1 PKNOX1 ZNF146 USF1 TBL1XR1 BMI1 CEBPG ZNF7 GATA3 CARD11 LOC101927256 CHST12 GC07M003056 ENSG00000228334
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000156848 345 1201 CTCF ZMYM3 RELA GTF3C2 ZNF316 EGR1 POLR2A ADNP EED ZNF143

Genomic Location for CARD11 Gene

Chromosome:
7
Start:
2,906,075 bp from pter
End:
3,043,945 bp from pter
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).
    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

Antibody Products

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

No data available for DME Specific Peptides for CARD11 Gene

Domains & 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

Q9BXL7

UniProtKB/Swiss-Prot:

CAR11_HUMAN :
  • Contains 1 CARD domain.
Domain:
  • Contains 1 CARD domain.
  • Contains 1 guanylate kinase-like domain.
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with CARD11: view

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.

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:

Animal Model Products

miRNA for CARD11 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for CARD11 Gene COMPARTMENTS Subcellular localization image for CARD11 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 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

Pathways & Interactions for CARD11 Gene

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

SIGNOR curated interactions for CARD11 Gene

Activates:
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: -
SP3:
SP4:

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

Relevant External Links for CARD11 Gene

GeneLoc Exon Structure for
CARD11
ECgene alternative splicing isoforms for
CARD11

Expression for CARD11 Gene

mRNA expression in normal human tissues 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



NURSA nuclear receptor signaling pathways regulating expression of CARD11 Gene:

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, Burkitts lymphoma Raji cells and colorectal adenocarcinoma SW480 cells. Not detected in HeLaS3, MOLT-4, A-549 and G431 cells.
genes like me logo Genes that share expression patterns with CARD11: view

Primer Products

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 34 35
  • 99.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CARD11 34 35
  • 89.91 (n)
dog
(Canis familiaris)
Mammalia CARD11 34 35
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Card11 34 16 35
  • 87 (n)
oppossum
(Monodelphis domestica)
Mammalia CARD11 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100363332 34
  • 84.07 (n)
chicken
(Gallus gallus)
Aves CARD11 34 35
  • 75.34 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 88 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC557072 34
  • 67.45 (n)
card11 35
  • 66 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CARD11 (if available)
TreeFam:
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 B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452], Pathogenic 2,944,495(-) GAACG(A/G)GGTCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs387907352 B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452], Pathogenic 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
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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
b-cell expansion with nfkb and t-cell anergy
  • benta
immunodeficiency 11
  • card11 immunodeficiency
persistent polyclonal b-cell lymphocytosis
  • ppbl
lymphoma, malt, somatic
  • lymphoma, mucosa-associated lymphoid type
diffuse large b-cell lymphoma
  • dlbcl
- 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}. 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)
CARD11
Human Genome Epidemiology (HuGE) Navigator
CARD11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARD11
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 Lett. 2001) 2 3 4 22 64
  2. CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with Bcl10 and activate NF-kappaB. (PMID: 11278692) Bertin J. … Alnemri E.S. (J. Biol. Chem. 2001) 2 3 4 64
  3. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. (PMID: 23374270) Stepensky P. … Warnatz K. (J. Allergy Clin. Immunol. 2013) 3 4 64
  4. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PMID: 23129749) Snow A.L. … Lenardo M.J. (J. Exp. Med. 2012) 3 4 64
  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 R.R. … Pomerantz J.L. (Mol. Cell. Biol. 2008) 3 22 64

Products for CARD11 Gene

Sources for CARD11 Gene

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