Entity Details

Primary name CARD14
Entity type gene
Source Source Link

Details

PrimaryID79092
RefseqGeneNG_032778
SymbolCARD14
Namecaspase recruitment domain family member 14
Chromosome17
Location17q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-20
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsCAR14_HUMAN

GO terms

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GOName
GO:0001934 positive regulation of protein phosphorylation
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006915 apoptotic process
GO:0007250 activation of NF-kappaB-inducing kinase activity
GO:0016235 aggresome
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0043066 negative regulation of apoptotic process
GO:0050700 CARD domain binding
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Diseases

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Disease IDSourceNameDescription
173200 OMIMPityriasis rubra pilaris (PRP)A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema. The disease is caused by variants affecting the gene represented in this entry.
602723 OMIMPsoriasis 2 (PSORS2)A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Disease susceptibility is associated with variants affecting the gene represented in this entry.