TNFRSF1A Chromosome 12
TNF receptor superfamily member 1A
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What This Gene Does
This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000067182
Associated Conditions (12)
TNF receptor-associated periodic fever syndrome (TRAPS)
Behcet disease
Autoinflammatory syndrome
Inborn genetic diseases
TNFRSF1A-related disorder
Hepatosplenomegaly
Febrile seizure (within the age range of 3 months to 6 years)
Multiple sclerosis
susceptibility to
5
Lung cancer
CHARGE syndrome
Key Variants
RS104895245
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
Health Risk
RS104895247
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), Behcet disease, TNF receptor-associated periodic fever syndrome (TRAPS)
Health Risk
RS104895260
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS104895265
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome, TNFRSF1A-related disorder
Health Risk
RS104895274
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
Health Risk
RS104895288
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), Hepatosplenomegaly, Febrile seizure (within the age range of 3 months to 6 years)
Health Risk
RS115164694
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS)
Health Risk
RS1228966267
Conflicting classifications of pathogenicity
Inborn genetic diseases, TNF receptor-associated periodic fever syndrome (TRAPS), Inborn genetic diseases
Health Risk
RS1275607339
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
Health Risk
RS1399104304
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), Inborn genetic diseases, TNF receptor-associated periodic fever syndrome (TRAPS)
Health Risk
RS140244212
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS147075345
Conflicting classifications of pathogenicity
TNF receptor-associated periodic fever syndrome (TRAPS), TNFRSF1A-related disorder, TNF receptor-associated periodic fever syndrome (TRAPS)
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104895252 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895253 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), Inborn genetic diseases, TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895276 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895287 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS1555108112 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS2136823066 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS2497787699 | Health Risk | Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS876661031 | Health Risk | Likely pathogenic | — |
| RS104895217 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895218 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895219 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), Multiple sclerosis, TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895220 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895222 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895224 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895227 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895230 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895249 | Health Risk | Pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS1592047560 | Health Risk | Pathogenic | CHARGE syndrome, CHARGE syndrome |
| RS886039866 | Health Risk | Pathogenic | Behcet disease, Behcet disease |
| RS104895223 | Health Risk | Pathogenic/Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895228 | Health Risk | Pathogenic/Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS104895271 | Health Risk | Pathogenic/Likely pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS), Inborn genetic diseases, Autoinflammatory syndrome |