Version: 8.0.0Date: Tue Jan 28 2025
Gene
TNFRSF1A
- Species
- Homo sapiens
- Symbol
- TNFRSF1A
- Name
- TNF receptor superfamily member 1A
- Synonyms
- CD120a
- FPF
- Biotype
- protein coding gene
- Automated Description
- Enables tumor necrosis factor binding activity and tumor necrosis factor receptor activity. Involved in several processes, including cell surface receptor signaling pathway; cellular response to mechanical stimulus; and positive regulation of canonical NF-kappaB signal transduction. Located in Golgi membrane; extracellular space; and membrane raft. Part of receptor complex. Is active in cell surface. Implicated in several diseases, including IgA glomerulonephritis; TNF receptor–associated periodic syndrome; acne; allergic bronchopulmonary aspergillosis; and autoimmune disease (multiple). Biomarker of several diseases, including acquired immunodeficiency syndrome; autoimmune disease (multiple); female reproductive organ cancer (multiple); kidney disease (multiple); and lung disease (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46861
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:6328757...6342114 - (13.36 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.