TRAF3 Chromosome 14
TNF receptor associated factor 3
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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
RS137916856
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS139127242
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS141920055
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS143813189
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS183443558
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS775312865
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS2542619877
Pathogenic
Herpes simplex encephalitis, susceptibility to, 3
Health Risk
RS2542634545
Pathogenic
TRAF3 haploinsufficiency, TRAF3 haploinsufficiency
Health Risk
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 |