TNFRSF9 Chromosome 1
TNF receptor superfamily member 9
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What This Gene Does
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
1p36.23
Ensembl
ENSG00000049249
Associated Conditions (4)
Inborn genetic diseases
TNFRSF9-related disorder
Lymphoma
Squamous cell carcinoma of the head and neck
Key Variants
RS762508142
Conflicting classifications of pathogenicity
Inborn genetic diseases, TNFRSF9-related disorder, Inborn genetic diseases
Health Risk
RS1639840705
Likely pathogenic
Health Risk
RS2151417795
Likely pathogenic
Health Risk
RS2527270896
Pathogenic
Health Risk
RS2527270913
Pathogenic
Health Risk
RS2527272194
Pathogenic
Health Risk
RS752649731
Pathogenic
Health Risk
RS754024907
Pathogenic
Lymphoma, Squamous cell carcinoma of the head and neck, Lymphoma
Health Risk
RS1639761448
Pathogenic/Likely pathogenic
TNFRSF9-related disorder, TNFRSF9-related disorder
Health Risk
RS771142611
Pathogenic/Likely pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS762508142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TNFRSF9-related disorder, Inborn genetic diseases |
| RS1639840705 | Health Risk | Likely pathogenic | — |
| RS2151417795 | Health Risk | Likely pathogenic | — |
| RS2527270896 | Health Risk | Pathogenic | — |
| RS2527270913 | Health Risk | Pathogenic | — |
| RS2527272194 | Health Risk | Pathogenic | — |
| RS752649731 | Health Risk | Pathogenic | — |
| RS754024907 | Health Risk | Pathogenic | Lymphoma, Squamous cell carcinoma of the head and neck, Lymphoma |
| RS1639761448 | Health Risk | Pathogenic/Likely pathogenic | TNFRSF9-related disorder, TNFRSF9-related disorder |
| RS771142611 | Health Risk | Pathogenic/Likely pathogenic | — |