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

Gene ID: 64170, updated on 17-Oct-2021

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
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
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Genomic context

See CARD9 in Genome Data Viewer
Location:
9q34.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136363956..136373669, complement)
105.20201022 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 G protein signaling modulator 1 Neighboring gene DNL-type zinc finger Neighboring gene Sharpr-MPRA regulatory region 3996 Neighboring gene small nuclear RNA activating complex polypeptide 4 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
GeneReviews: Not available
Candidiasis, familial, 2
MedGen: C1859353 OMIM: 212050 GeneReviews: Not available
Compare labs
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
GeneReviews: Not available
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.
GeneReviews: Not available
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

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
enables CARD domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in I-kappaB kinase/NF-kappaB signaling 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
 
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
Inferred from Expression Pattern
more info
PubMed 
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 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 
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 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
 
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
PubMed 
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)

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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.

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
    Q9H257
    UniProtKB/TrEMBL
    A0A024R8F1
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    136363956..136373669 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.
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