TNFRSF10B Chromosome 8
TNF receptor superfamily member 10b
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What This Gene Does
The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000120889
Associated Conditions (1)
Squamous cell carcinoma of the head and neck
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757683917 | Health Risk | Likely pathogenic | Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck |
| RS772964680 | Health Risk | Pathogenic | Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck |