TRAF3 Chromosome 14

TNF receptor associated factor 3
8 variants 8 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"Ring finger proteins|TNF receptor associated factors|Zinc fingers TRAF-type"
Locus Type
gene with protein product
Location
14q32.32
Ensembl
ENSG00000131323
Associated Conditions (5)
Herpes simplex encephalitis
susceptibility to
3
TRAF3-related disorder
TRAF3 haploinsufficiency
Key Variants
All Variants (8)
RSID Category Clinical Significance Conditions
RS137916856 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to, 3
RS139127242 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to, 3
RS141920055 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to, 3
RS143813189 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to, 3
RS183443558 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to, 3
RS775312865 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to, 3
RS2542619877 Health Risk Pathogenic Herpes simplex encephalitis, susceptibility to, 3
RS2542634545 Health Risk Pathogenic TRAF3 haploinsufficiency, TRAF3 haploinsufficiency
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