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    CARD10 caspase recruitment domain family member 10 [ Homo sapiens (human) ]

    Gene ID: 29775, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CARD10provided by HGNC
    Official Full Name
    caspase recruitment domain family member 10provided by HGNC
    Primary source
    HGNC:HGNC:16422
    See related
    Ensembl:ENSG00000100065 MIM:607209; AllianceGenome:HGNC:16422
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BIMP1; IMD89; CARMA3
    Summary
    The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in small intestine (RPKM 15.9), duodenum (RPKM 15.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CARD10 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37490362..37519415, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37951227..37980107, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37886400..37915422, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 2 Neighboring gene uncharacterized LOC124905114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37782078-37782616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37798615-37799363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37806589-37807090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37812286-37812830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37815805-37816474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37816475-37817143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37863012-37863625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37865281-37865782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37880249-37880758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882293-37882802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882803-37883314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37883315-37883824 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898069-37898668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898669-37899266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904132-37904960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904961-37905787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37907945-37908458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37934271-37934772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37934773-37935272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37948043-37948624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37948625-37949206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37957730-37958337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37957123-37957729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37958338-37958944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37959472-37959972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37959973-37960473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37963831-37964482 Neighboring gene HNF1 motif-containing MPRA enhancer 93 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37965972-37966480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37967120-37967620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37967621-37968121 Neighboring gene CDC42 effector protein 1 Neighboring gene galectin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Overexpression of CARMA3 in non-small-cell lung cancer is linked for tumor progression. Li Z, et al. PLoS One, 2012. PMID 22615840, Free PMC Article
    2. Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population. Migita K, et al. BMC Res Notes, 2015 Dec 12. PMID 26652023, Free PMC Article
    3. CARMA3: A potential therapeutic target in non-cancer diseases. Gui Z, et al. Front Immunol, 2022. PMID 36618379, Free PMC Article
    4. Overexpression of CARMA3 is associated with advanced tumor stage, cell cycle progression, and cisplatin resistance in human epithelial ovarian cancer. Xie C, et al. Tumour Biol, 2014 Aug. PMID 24833094
    5. Lack of association between CARD10/CARMA3 tag SNPs and psoriasis vulgaris in the southern Chinese population. Shi G, et al. Genet Mol Res, 2017 Mar 15. PMID 28301668

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CARMA3: A potential therapeutic target in non-cancer diseases.
      Title: CARMA3: A potential therapeutic target in non-cancer diseases.
    2. CARMA3 Transcriptional Regulation of STMN1 by NF-kappaB Promotes Renal Cell Carcinoma Proliferation and Invasion.
      Title: CARMA3 Transcriptional Regulation of STMN1 by NF-κB Promotes Renal Cell Carcinoma Proliferation and Invasion.
    3. Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.
      Title: Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.
    4. The circINTS4/miR-146b/CARMA3 axis promotes tumorigenesis in bladder cancer.
      Title: The circINTS4/miR-146b/CARMA3 axis promotes tumorigenesis in bladder cancer.
    5. CARD10 promotes the progression of renal cell carcinoma by regulating the NFkappaB signaling pathway.
      Title: CARD10 promotes the progression of renal cell carcinoma by regulating the NF‑κB signaling pathway.
    6. Caspase recruitment domain family member 10 regulates carbamoyl phosphate synthase 1 and promotes cancer growth in bladder cancer cells.
      Title: Caspase recruitment domain family member 10 regulates carbamoyl phosphate synthase 1 and promotes cancer growth in bladder cancer cells.
    7. Higher expression of CARMA3 in hepatocellular carcinoma (HCC) was relevant to poor prognostic survival. Down-regulation of CARMA3 inhibited proliferation and colony formation and induced apoptosis in HCC cell lines, while increasing its expression promoted tumorigenesis.
      Title: CARMA3/NF-κB signaling contributes to tumorigenesis of hepatocellular carcinoma and is inhibited by sodium aescinate.
    8. Card10 is expressed in granulocytes and is a direct target of CEBPE with functions extending to myeloid differentiation.
      Title: CARD10, a CEBPE target involved in granulocytic differentiation.
    9. High CARMA3 expression is associated with Breast Cancer.
      Title: The CARMA3-Bcl10-MALT1 Signalosome Drives NFκB Activation and Promotes Aggressiveness in Angiotensin II Receptor-Positive Breast Cancer.
    10. The results suggest that the involvement of CARMA3 in DNA damage-induced NF-kappaB is through the recruitment of TRAF6.
      Title: The CARMA3-BCL10-MALT1 (CBM) complex contributes to DNA damage-induced NF-κB activation and cell survival.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 89 and autoimmunity
    MedGen: C5562027 OMIM: 619632 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
    EBI GWAS Catalog
    Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MFNG

    Homology

    Clone Names

    • MGC142219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor complex adaptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of NF-kappaB-inducing kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein-containing complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of CBM complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in immunological synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    caspase recruitment domain-containing protein 10
    Names
    Bcl10 binding protein and activator of NFKB
    CARD-containing MAGUK 3 protein
    CARD-containing MAGUK protein 3
    carma 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014550.4 → NP_055365.2  caspase recruitment domain-containing protein 10

      See identical proteins and their annotated locations for NP_055365.2

      Status: REVIEWED

      Source sequence(s)
      AK057334, AL022315, AY028896, AY032928, BC032058
      Consensus CDS
      CCDS13948.1
      UniProtKB/Swiss-Prot
      Q14CQ8, Q5TFG6, Q8NC81, Q9BWT7, Q9UGR5, Q9UGR6, Q9Y3H0
      UniProtKB/TrEMBL
      Q17RA1
      Related
      ENSP00000251973.5, ENST00000251973.10
      Conserved Domains (4) summary
      cd08807
      Location:27 → 112
      CARD_CARD10_CARMA3; Caspase activation and recruitment domain of CARD10-like proteins
      pfam10267
      Location:112 → 245
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
      cl12138
      Location:282 → 395
      ThylakoidFormat; Thylakoid formation protein
      cl17036
      Location:705 → 770
      SH3; Src Homology 3 domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37490362..37519415 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37951227..37980107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BWT7.2 GenPept UniProtKB/Swiss-Prot:Q9BWT7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools