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TNFRSF1A

Chr 12p13.31

TNF receptor superfamily member 1A

Aliases:
TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a
MANE:
ENST00000162749.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autoinflammatory disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial Meniere Disease

Disease associations (Open Targets)

  • TNF receptor 1-associated periodic fever syndrome

    0.84
  • Tumor necrosis factor receptor 1 associated periodic syndrome

    0.82
  • multiple sclerosis

    0.66
  • primary biliary cholangitis

    0.52
  • Behcet disease

    0.46
  • ankylosing spondylitis

    0.45
  • autoinflammatory syndrome

    0.40
  • hereditary disease

    0.39
  • pneumonia

    0.37
  • biliary liver cirrhosis

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tumor necrosis factor receptor superfamily member 1A

Receptor for TNFSF2/TNF and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase

Curated MONDO disease pages that list TNFRSF1A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.