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    CARD9 caspase recruitment domain family member 9 [ Homo sapiens (human) ]

    Gene ID: 64170, updated on 19-Aug-2018

    Summary

    Official Symbol
    CARD9provided by HGNC
    Official Full Name
    caspase recruitment domain family member 9provided by HGNC
    Primary source
    HGNC:HGNC:16391
    See related
    Ensembl:ENSG00000187796 MIM:607212; Vega:OTTHUMG00000020925
    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
    CANDF2; hCARD9
    Summary
    The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in bone marrow (RPKM 5.8), spleen (RPKM 4.7) and 19 other tissues See more
    Orthologs

    Genomic context

    See CARD9 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (136363956..136373681, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139258408..139268133, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene G protein signaling modulator 1 Neighboring gene DNL-type zinc finger Neighboring gene small nuclear RNA activating complex polypeptide 4 Neighboring gene endosome associated trafficking regulator 1 Neighboring gene peptidase, mitochondrial processing alpha subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Candidiasis, familial, 2
    MedGen: C1859353 OMIM: 212050 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    NHGRI GWA Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.
    NHGRI GWA Catalog
    Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
      C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
    • CLEC7A (Dectin-1) signaling, organism-specific biosystem (from REACTOME)
      CLEC7A (Dectin-1) signaling, organism-specific biosystemCLEC7A (also known as Dectin-1) is a pattern-recognition receptor (PRR) expressed by myeloid cells (macrophages, dendritic cells and neutrophils) that detects pathogens by binding to beta-1,3-glucans...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
      NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
    • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
      Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Potential readthrough

    Included gene: DNLZ

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of stress-activated MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of interleukin-2 biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of interleukin-6 biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of tumor necrosis factor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to exogenous dsRNA IEA
    Inferred from Electronic Annotation
    more info
     
    response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    response to muramyl dipeptide IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptidoglycan IEA
    Inferred from Electronic Annotation
    more info
     
    stimulatory C-type lectin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    caspase recruitment domain-containing protein 9

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_021197.1 RefSeqGene

      Range
      5001..14726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_178

    mRNA and Protein(s)

    1. NM_052813.4NP_434700.2  caspase recruitment domain-containing protein 9 isoform 1

      See identical proteins and their annotated locations for NP_434700.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF311287, AK292081, AL592301, BM148244
      Consensus CDS
      CCDS6997.1
      UniProtKB/Swiss-Prot
      Q9H257
      UniProtKB/TrEMBL
      A0A024R8F1
      Related
      ENSP00000360797.5, OTTHUMP00000022571, ENST00000371732.9, OTTHUMT00000055053
      Conserved Domains (1) summary
      cd08809
      Location:1095
      CARD_CARD9; Caspase activation and recruitment domain of CARD9-like proteins
    2. NM_052814.3NP_434701.1  caspase recruitment domain-containing protein 9 isoform 2

      See identical proteins and their annotated locations for NP_434701.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC008877, BM148244
      Consensus CDS
      CCDS48057.1
      UniProtKB/Swiss-Prot
      Q9H257
      Related
      ENSP00000360799.3, OTTHUMP00000022569, ENST00000371734.7, OTTHUMT00000055050
      Conserved Domains (2) summary
      cd08809
      Location:1095
      CARD_CARD9; Caspase activation and recruitment domain of CARD9-like proteins
      cl25732
      Location:127396
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      136363956..136373681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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