CARD9 (caspase recruitment domain family member 9)

2006-10-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
CANDF2,hCARD9

Other Information

Locus ID:

NCBI: 64170
MIM: 607212
HGNC: 16391
Ensembl: ENSG00000187796

Variants:

dbSNP: 64170
ClinVar: 64170
TCGA: ENSG00000187796
COSMIC: CARD9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187796ENST00000371732Q9H257
ENSG00000187796ENST00000371732A0A024R8F1
ENSG00000187796ENST00000371734Q9H257
ENSG00000187796ENST00000489932Q9H257
ENSG00000187796ENST00000489932A0A024R8I4
ENSG00000187796ENST00000641290A0A286YFD5

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
NOD1/2 Signaling PathwayREACTOMER-HSA-168638
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198646722009A homozygous CARD9 mutation in a family with susceptibility to fungal infections.259
271589042016CARD9 impacts colitis by altering gut microbiota metabolism of tryptophan into aryl hydrocarbon receptor ligands.195
253057562014Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.118
184395502008Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.93
184395502008Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.93
241311382013Deep dermatophytosis and inherited CARD9 deficiency.87
240689452013Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.67
179367012007pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2.65
257028372015Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.52
256218932015Compartment-specific and sequential role of MyD88 and CARD9 in chemokine induction and innate defense during respiratory fungal infection.46

Citation

Dessen P

CARD9 (caspase recruitment domain family member 9)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43193/card9