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Aliases for CARD9 Gene

Aliases for CARD9 Gene

  • Caspase Recruitment Domain Family, Member 9 2 3
  • CANDF2 3 6
  • HCARD9 3 4
  • Caspase Recruitment Domain-Containing Protein 9 3

External Ids for CARD9 Gene

Previous GeneCards Identifiers for CARD9 Gene

  • GC09M130326
  • GC09M130947
  • GC09M132699
  • GC09M134615
  • GC09M136532
  • GC09M138373
  • GC09M138378
  • GC09M139259
  • GC09M108717

Summaries for CARD9 Gene

Entrez Gene Summary for CARD9 Gene

  • 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]

GeneCards Summary for CARD9 Gene

CARD9 (Caspase Recruitment Domain Family, Member 9) is a Protein Coding gene. Diseases associated with CARD9 include candidiasis, familial, 2, autosomal recessive and deep dermatophytosis. Among its related pathways are NOD-like Receptor Signaling Pathways and Tuberculosis. GO annotations related to this gene include protein homodimerization activity and CARD domain binding. An important paralog of this gene is CARD11.

UniProtKB/Swiss-Prot for CARD9 Gene

  • Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. Also involved in activation of myeloid cells via classical ITAM-associated receptors and TLR: required for TLR-mediated activation of MAPK, while it is not required for TLR-induced activation of NF-kappa-B (By similarity). Controls CLEC7A (dectin-1)-mediated myeloid cell activation induced by the yeast cell wall component zymosan, leading to cytokine production and innate anti-fungal immunity: acts by regulating BCL10-MALT1-mediated NF-kappa-B activation pathway. Activates NF-kappa-B via BCL10. In response to the hyphal form of C.albicans, mediates CLEC6A (dectin-2)-induced I-kappa-B kinase ubiquitination, leading to NF-kappa-B activation via interaction with BCL10. In response to fungal infection, may be required for the development and subsequent differentiation of interleukin 17-producing T helper (TH-17) cells.

Gene Wiki entry for CARD9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARD9 Gene

Genomics for CARD9 Gene

Regulatory Elements for CARD9 Gene

Genomic Location for CARD9 Gene

Start:
136,361,903 bp from pter
End:
136,373,681 bp from pter
Size:
11,779 bases
Orientation:
Minus strand

Genomic View for CARD9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CARD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARD9 Gene

Proteins for CARD9 Gene

  • Protein details for CARD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H257-CARD9_HUMAN
    Recommended name:
    Caspase recruitment domain-containing protein 9
    Protein Accession:
    Q9H257
    Secondary Accessions:
    • Q5SXM5
    • Q5SXM6
    • Q9H854

    Protein attributes for CARD9 Gene

    Size:
    536 amino acids
    Molecular mass:
    62241 Da
    Quaternary structure:
    • Interacts with NOD2 (via NACHT domain) (PubMed:24960071). Interacts with RIPK2 (By similarity). Interacts with VHL; without leading to protein degradation (By similarity). Self-associates. Interacts (via CARD domain) with BCL10 (via CARD domain) (PubMed:11053425).

    Alternative splice isoforms for CARD9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARD9 Gene

Proteomics data for CARD9 Gene at MOPED

Post-translational modifications for CARD9 Gene

  • Phosphorylated at Thr-531 and Thr-533 by CK2 following interaction with VHL, leading to inhibit the ability to activate NF-kappa-B.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARD9 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CARD9 Gene

Domains for CARD9 Gene

Protein Domains for CARD9 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H257

UniProtKB/Swiss-Prot:

CARD9_HUMAN :
  • Q9H257
Domain:
  • Contains 1 CARD domain.
genes like me logo Genes that share domains with CARD9: view

No data available for Gene Families for CARD9 Gene

Function for CARD9 Gene

Molecular function for CARD9 Gene

UniProtKB/Swiss-Prot Function: Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. Also involved in activation of myeloid cells via classical ITAM-associated receptors and TLR: required for TLR-mediated activation of MAPK, while it is not required for TLR-induced activation of NF-kappa-B (By similarity). Controls CLEC7A (dectin-1)-mediated myeloid cell activation induced by the yeast cell wall component zymosan, leading to cytokine production and innate anti-fungal immunity: acts by regulating BCL10-MALT1-mediated NF-kappa-B activation pathway. Activates NF-kappa-B via BCL10. In response to the hyphal form of C.albicans, mediates CLEC6A (dectin-2)-induced I-kappa-B kinase ubiquitination, leading to NF-kappa-B activation via interaction with BCL10. In response to fungal infection, may be required for the development and subsequent differentiation of interleukin 17-producing T helper (TH-17) cells.

Gene Ontology (GO) - Molecular Function for CARD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22267217
GO:0042803 protein homodimerization activity IPI 11053425
GO:0050700 CARD domain binding IPI 11053425
genes like me logo Genes that share ontologies with CARD9: view
genes like me logo Genes that share phenotypes with CARD9: view

Animal Models for CARD9 Gene

MGI Knock Outs for CARD9:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CARD9 Gene

Localization for CARD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARD9 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CARD9 Gene COMPARTMENTS Subcellular localization image for CARD9 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CARD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11053425
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CARD9: view

Pathways for CARD9 Gene

genes like me logo Genes that share pathways with CARD9: view

Pathways by source for CARD9 Gene

1 Cell Signaling Technology pathway for CARD9 Gene
1 BioSystems pathway for CARD9 Gene

Gene Ontology (GO) - Biological Process for CARD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0009620 response to fungus IEA --
GO:0032494 response to peptidoglycan IEA --
GO:0032495 response to muramyl dipeptide IEA --
GO:0032755 positive regulation of interleukin-6 production IEA --
genes like me logo Genes that share ontologies with CARD9: view

Transcripts for CARD9 Gene

Unigene Clusters for CARD9 Gene

Caspase recruitment domain family, member 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CARD9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^
SP1: - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6: -
SP7: -
SP8:
SP9:

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CARD9 Gene

GeneLoc Exon Structure for
CARD9
ECgene alternative splicing isoforms for
CARD9

Expression for CARD9 Gene

mRNA expression in normal human tissues for CARD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CARD9 Gene

This gene is overexpressed in Whole Blood (6.5) and Spleen (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CARD9 Gene

SOURCE GeneReport for Unigene cluster for CARD9 Gene Hs.694071

mRNA Expression by UniProt/SwissProt for CARD9 Gene

Q9H257-CARD9_HUMAN
Tissue specificity: Highly expressed in spleen. Also detected in liver, placenta, lung, peripheral blood leukocytes and in brain
genes like me logo Genes that share expressions with CARD9: view

Orthologs for CARD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CARD9 35
  • 99 (n)
  • 99.25 (a)
CARD9 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CARD9 35
  • 85.88 (n)
  • 80.6 (a)
CARD9 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CARD9 35
  • 87.56 (n)
  • 86.75 (a)
CARD9 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Card9 35
  • 84.55 (n)
  • 86.17 (a)
Card9 16
Card9 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CARD9 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CARD9 36
  • 8 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Card9 35
  • 85.23 (n)
  • 86.36 (a)
chicken
(Gallus gallus)
Aves CARD9 35
  • 67.48 (n)
  • 61.24 (a)
CARD9 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia card9 35
  • 63.92 (n)
  • 57.55 (a)
zebrafish
(Danio rerio)
Actinopterygii card9 35
  • 56.25 (n)
  • 51.9 (a)
card9 36
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for CARD9:
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARD9 Gene

ENSEMBL:
Gene Tree for CARD9 (if available)
TreeFam:
Gene Tree for CARD9 (if available)

Paralogs for CARD9 Gene

Paralogs for CARD9 Gene

Selected SIMAP similar genes for CARD9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CARD9: view

Variants for CARD9 Gene

Sequence variations from dbSNP and Humsavar for CARD9 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs3124993 -- 136,367,753(+) CCGCA(C/G)CTGCT missense, reference
rs3812555 -- 136,367,481(+) CTGCT(C/T)GTGTG intron-variant
rs3812556 -- 136,367,539(+) CAGAG(A/G)AGGGT intron-variant
rs3812557 -- 136,373,628(+) GGGAG(A/G)AGCAC utr-variant-5-prime
rs3812558 -- 136,374,683(+) CATCA(A/G)CATGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CARD9 Gene

Variant ID Type Subtype PubMed ID
nsv825173 CNV Gain 20364138
nsv894294 CNV Loss 21882294
dgv8383n71 CNV Loss 21882294
dgv8384n71 CNV Loss 21882294
dgv8385n71 CNV Loss 21882294
dgv8386n71 CNV Loss 21882294
dgv8387n71 CNV Loss 21882294
dgv8389n71 CNV Loss 21882294
dgv8390n71 CNV Loss 21882294
dgv8392n71 CNV Loss 21882294
dgv8393n71 CNV Loss 21882294
nsv894357 CNV Loss 21882294
nsv894359 CNV Loss 21882294
nsv6764 CNV Loss 18451855
nsv509333 CNV Insertion 20534489
nsv482928 CNV Loss 15286789
dgv2426e1 CNV Complex 17122850
nsv894361 CNV Loss 21882294
nsv469918 CNV Loss 18288195
dgv8394n71 CNV Loss 21882294
nsv831760 CNV Loss 17160897

Relevant External Links for CARD9 Gene

HapMap Linkage Disequilibrium report
CARD9
Human Gene Mutation Database (HGMD)
CARD9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARD9 Gene

Disorders for CARD9 Gene

(1) OMIM Diseases for CARD9 Gene (607212)

UniProtKB/Swiss-Prot

CARD9_HUMAN
  • Candidiasis, familial, 2 (CANDF2) [MIM:212050]: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. {ECO:0000269 PubMed:19864672, ECO:0000269 PubMed:23335372, ECO:0000269 PubMed:24131138}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defects induce reduced numbers of CD4(+) Th17 lymphocytes as well as a lack of monocyte-derived cytokines in response to Candida strains. Neutrophils show a selective Candida albicans killing defect with abnormal ultrastructural phagolysosomes and outgrowth of hyphae (PubMed:23335372). {ECO:0000269 PubMed:23335372}.

(2) University of Copenhagen DISEASES for CARD9 Gene

Relevant External Links for CARD9

Genetic Association Database (GAD)
CARD9
Human Genome Epidemiology (HuGE) Navigator
CARD9
genes like me logo Genes that share disorders with CARD9: view

Publications for CARD9 Gene

  1. CARD9 is a novel caspase recruitment domain-containing protein that interacts with Bcl10/CLAP and activates NF-kappa B. (PMID: 11053425) Bertin J. … Alnemri E.S. (J. Biol. Chem. 2000) 2 3 4
  2. Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. (PMID: 18439550) Zhernakova A. … Weersma R.K. (Am. J. Hum. Genet. 2008) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CARD9 Gene

  • Addgene plasmids for CARD9

Sources for CARD9 Gene

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