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

    Gene ID: 64170, updated on 2-May-2024

    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; AllianceGenome:HGNC:16391
    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; IMD103; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CARD9 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136363956..136373669, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148593287..148603003, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139258408..139268121, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC26102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139218370-139218998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139218999-139219627 Neighboring gene Sharpr-MPRA regulatory region 1004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139222157-139222686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139222687-139223215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139227274-139227906 Neighboring gene G protein signaling modulator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139237289-139238070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139238071-139238852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139239387-139240040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139240041-139240694 Neighboring gene Sharpr-MPRA regulatory region 3186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20508 Neighboring gene uncharacterized LOC124902309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139258773-139259663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139259664-139260553 Neighboring gene DNL-type zinc finger Neighboring gene Sharpr-MPRA regulatory region 3996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139268303-139269016 Neighboring gene small nuclear RNA activating complex polypeptide 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139291906-139293105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139294835-139295771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139301375-139301963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20516 Neighboring gene endosome associated trafficking regulator 1

    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 Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Predisposition to invasive fungal disease due to CARD9 deficiency
    MedGen: C1859353 OMIM: 212050 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    EBI GWAS Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    EBI GWAS 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.
    EBI GWAS Catalog
    Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Potential readthrough

    Included gene: DNLZ

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CARD domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antifungal innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antifungal innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in host-mediated regulation of intestinal microbiota composition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immunoglobulin mediated immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T-helper 17 type immune response 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 canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of chemokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of granulocyte macrophage colony-stimulating factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-17 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macrophage cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of stress-activated MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of stress-activated MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of interleukin-2 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to exogenous dsRNA IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muramyl dipeptide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to peptidoglycan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stress-activated MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of CBM complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    caspase recruitment domain-containing protein 9

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_052813.5NP_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
      Q5SXM5, Q5SXM6, Q9H257, Q9H854
      Related
      ENSP00000360797.5, ENST00000371732.10
      Conserved Domains (1) summary
      cd08809
      Location:1095
      CARD_CARD9; Caspase activation and recruitment domain of CARD9-like proteins
    2. NM_052814.4NP_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, ENST00000371734.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136363956..136373669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148593287..148603003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022352.2: Suppressed sequence

      Description
      NM_022352.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.