RBCC Red Blood Cell Collection

TNFA_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: TNF , TNFA, TNFSF2
Protein names and data: TNFA_HUMAN , Tumor necrosis factor , Cachectin; TNF-alpha; Tumor necrosis factor ligand superfamily member 2; TNF-a; Tumor necrosis factor, membrane form; N-terminal fragment; NTF; Intracellular domain 1; ICD1; Intracellular domain 2; ICD2; C-domain 1; C-domain 2; Tumor necrosis factor, soluble form; Flags: Precursor Lenght: 233 a.a.
Mass: 25644 Da
fasta formatted sequence
Function: Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. The TNF intracellular domain (ICD) form induces IL12 production in dendritic cells.
Disease: ( OMIM: 191160 607507 610424 611162 ) Psoriatic arthritis (PSORAS) [MIM:607507]: An inflammatory, seronegative arthritis associated with psoriasis. It is a heterogeneous disorder ranging from a mild, non-destructive disease to a severe, progressive, erosive arthropathy. Five types of psoriatic arthritis have been defined: asymmetrical oligoarthritis characterized by primary involvement of the small joints of the fingers or toes; asymmetrical arthritis which involves the joints of the extremities; symmetrical polyarthritis characterized by a rheumatoid like pattern that can involve hands, wrists, ankles, and feet; arthritis mutilans, which is a rare but deforming and destructive condition; arthritis of the sacroiliac joints and spine (psoriatic spondylitis). Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location: Cell membrane; Single-pass type II membrane protein. Tumor necrosis factor, membrane form: Membrane; Single-pass type II membrane protein. Tumor necrosis factor, soluble form: Secreted. C-domain 1: Secreted. C-domain 2: Secreted.

Genetic variants

Genetic variations in TNF influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]. Genetic variations in TNF are involved in susceptibility to malaria [MIM:611162].

84 - 84 P -> L (in dbSNP:rs4645843). VAR_019378 4645843
94 - 94 A -> T (in dbSNP:rs1800620). VAR_011927 1800620

Database cross-references

UniProt: P01375
Ensembl: ENST00000376122
Ensembl: ENST00000383496
Ensembl: ENST00000412275
Ensembl: ENST00000420425
Ensembl: ENST00000443707
Ensembl: ENST00000448781
Ensembl: ENST00000449264
MIM: 191160
MIM: 607507
MIM: 610424
MIM: 611162
neXtProt: NX_P01375
Antibodypedia: P01375 (may not find the protein thus also not any antibody)
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