ENSG00000187796


Homo sapiens

Features
Gene ID: ENSG00000187796
  
Biological name :CARD9
  
Synonyms : CARD9 / caspase recruitment domain family member 9 / Q9H257
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q34.3
Gene start: 136361903
Gene end: 136373681
  
Corresponding Affymetrix probe sets: 220162_s_at (Human Genome U133 Plus 2.0 Array)   228272_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360797
Ensembl peptide - ENSP00000493113
Ensembl peptide - ENSP00000451368
Ensembl peptide - ENSP00000360799
NCBI entrez gene - 64170     See in Manteia.
OMIM - 607212
RefSeq - NM_052814
RefSeq - NM_052813
RefSeq Peptide - NP_434700
RefSeq Peptide - NP_434701
swissprot - Q9H257
swissprot - A0A024R8I4
swissprot - A0A024R8F1
swissprot - A0A286YFD5
Ensembl - ENSG00000187796
  
Related genetic diseases (OMIM): 212050 - Candidiasis, familial, 2, autosomal recessive, 212050
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 card9ENSDARG00000067672Danio rerio
 CARD9ENSGALG00000001889Gallus gallus
 Card9ENSMUSG00000026928Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CARD11 / Q9BXL7 / caspase recruitment domain family member 11ENSG0000019828641
CARD10 / Q9BWT7 / caspase recruitment domain family member 10ENSG0000010006536
CARD14 / Q9BXL6 / caspase recruitment domain family member 14ENSG0000014152727


Protein motifs (from Interpro)
Interpro ID Name
 IPR001315  CARD domain
 IPR011029  Death-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0009620 response to fungus IEA
 biological_processGO:0032494 response to peptidoglycan IEA
 biological_processGO:0032495 response to muramyl dipeptide IEA
 biological_processGO:0032755 positive regulation of interleukin-6 production IEA
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IEA
 biological_processGO:0032874 positive regulation of stress-activated MAPK cascade IDA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042534 regulation of tumor necrosis factor biosynthetic process IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
 biological_processGO:0043330 response to exogenous dsRNA IEA
 biological_processGO:0045076 regulation of interleukin-2 biosynthetic process IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045089 positive regulation of innate immune response IEA
 biological_processGO:0045408 regulation of interleukin-6 biosynthetic process IEA
 biological_processGO:0046330 positive regulation of JNK cascade IDA
 biological_processGO:0050830 defense response to Gram-positive bacterium IEA
 biological_processGO:0051607 defense response to virus IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0050700 CARD domain binding IPI


Pathways (from Reactome)
Pathway description
NOD1/2 Signaling Pathway
CLEC7A (Dectin-1) signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001287 Meningitis 
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001871 Hematological abnormality 
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 HP:0002721 Immunodeficiency 
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 HP:0009098 Chronic oral candidiasis 
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 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100324 TAB1 / Q15750 / TGF-beta activated kinase 1 (MAP3K7) binding protein 1  / reaction / complex
 ENSG00000104312 RIPK2 / O43353 / receptor interacting serine/threonine kinase 2  / complex / reaction
 ENSG00000106100 NOD1 / Q9Y239 / nucleotide binding oligomerization domain containing 1  / complex / reaction
 ENSG00000157625 TAB3 / Q8N5C8 / TGF-beta activated kinase 1 and MAP3K7 binding protein 3  / reaction / complex
 ENSG00000167207 NOD2 / Q9HC29 / nucleotide binding oligomerization domain containing 2  / complex / reaction
 ENSG00000163932 PRKCD / Q05655 / protein kinase C delta  / reaction
 ENSG00000172175 MALT1 / Q9UDY8 / MALT1 paracaspase  / reaction / complex
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000187796 CARD9 / Q9H257 / caspase recruitment domain family member 9  / - / reaction
 ENSG00000135341 MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7  / complex / reaction
 ENSG00000055208 TAB2 / Q9NYJ8 / TGF-beta activated kinase 1/MAP3K7 binding protein 2  / complex / reaction
 ENSG00000142867 BCL10 / O95999 / B cell CLL/lymphoma 10  / reaction / complex






 

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