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FLASH GENE
Symbol TNFRSF1A contributors: mct/pgu - updated : 07-06-2017
HGNC name tumor necrosis factor receptor superfamily, member 1A
HGNC id 11916
ASSOCIATED DISORDERS
corresponding disease(s) TRAPS
related resource INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
MVK (V377I) mutation and TNFRSF1A (R92Q) mutation with phenotype resembled a mixture of variant-type HIDS and TRAPS
constitutional     --over  
in fulminant hepatic failure cases in relation to acute viral hepatitis cases
Susceptibility
  • to myocardial infarction and carotid intima-media thickness
  • to systemic lupus erythematosus
  • to tuberculosis
  • to hepatocellular carcinoma
  • Variant & Polymorphism other
  • R92Q increasing the risk of atherosclerosis
  • T61I and R104Q, are associated with systemic lupus erythematosus
  • polymorphisms increasing the risk of hepatocellular carcinoma
  • Candidate gene could be a modifier gene in cystic fibrosis
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    interfering with the TNFRSF1A pathway offers the possibility to selectively block the formation of ectopic lymphoid tissue, opening a new perspective for the treatment of autoimmune and inflammatory diseases
    immunologyinflammatory 
    potential therapeutic target in fulminant hepatic failure cases in relation to acute viral hepatitis cases
    ANIMAL & CELL MODELS