TNFRSF4 Chromosome 1
TNF receptor superfamily member 4
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What This Gene Does
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000186827
Associated Conditions (1)
Combined immunodeficiency due to OX40 deficiency
Key Variants
RS150407012
Conflicting classifications of pathogenicity
Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
Health Risk
RS569590056
Conflicting classifications of pathogenicity
Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
Health Risk
RS749385408
Conflicting classifications of pathogenicity
Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
Health Risk
RS762071902
Conflicting classifications of pathogenicity
Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150407012 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency |
| RS569590056 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency |
| RS749385408 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency |
| RS762071902 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency |