TNF Chromosome 6

Tumor necrosis factor
5 variants 1 Drug Response 3 Health Risk 1 Protective

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What This Gene Does
This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, psoriasis, rheumatoid arthritis ankylosing spondylitis, tuberculosis, autosomal dominant polycystic kidney disease, and cancer. Mutations in this gene affect susceptibility to cerebral malaria, septic shock, and Alzheimer disease. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Tumor necrosis factor superfamily
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000232810
Associated Conditions (18)
etanercept response - Efficacy
Susceptibility to severe coronavirus disease (COVID-19)
HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA
SUSCEPTIBILITY TO
Psoriatic arthritis
susceptibility to
Systemic lupus erythematosus
Inherited susceptibility to asthma
Malaria
cerebral
Endometriosis
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF
TNFR
and/or TNFR4
TNF receptor binding
altered
Alzheimer disease
protection against
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS1800629 Drug Response drug response etanercept response - Efficacy, Susceptibility to severe coronavirus disease (COVID-19), HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA
RS281865419 Health Risk Pathogenic TNF receptor binding, altered, TNF receptor binding
RS1799724 Health Risk risk factor
RS1800750 Health Risk risk factor Malaria, cerebral, susceptibility to
RS1800630 Protective protective Alzheimer disease, protection against, Alzheimer disease
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