Gene Gene information from NCBI Gene database.
Entrez ID 7124
Gene name Tumor necrosis factor
Gene symbol TNF
Synonyms (NCBI Gene)
DIFIMD127TNF-alphaTNFATNFSF2TNLG1F
Chromosome 6
Chromosome location 6p21.33
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1800629 G>A Drug-response Upstream transcript variant
rs281865419 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
53
miRTarBase ID miRNA Experiments Reference
MIRT006787 hsa-miR-19a-3p Luciferase reporter assay 21271217
MIRT006857 hsa-miR-203a-3p Luciferase reporter assay 22917968
MIRT006857 hsa-miR-203a-3p Luciferase reporter assay 22917968
MIRT053456 hsa-miR-452-5p Microarray 23807165
MIRT054325 hsa-miR-187-3p ImmunoblotLuciferase reporter assayqRT-PCR 23071313
Transcription factors Transcription factors information provided by TRRUST V2 database.
24
Transcription factor Regulation Reference
ATF2 Activation 10688670;10748079;10913190;20068037
CEBPB Unknown 10629048;9566900
CEBPD Unknown 10629048
E2F1 Unknown 17707233
EGR1 Activation 10913190;14767560
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
317
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 1618860
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15345745
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000976 Function Transcription cis-regulatory region binding IDA 17350185
GO:0001666 Process Response to hypoxia IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191160 11892 ENSG00000232810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01375
Protein name Tumor necrosis factor (Cachectin) (TNF-alpha) (Tumor necrosis factor ligand superfamily member 2) (TNF-a) [Cleaved into: Tumor necrosis factor, membrane form (N-terminal fragment) (NTF); Intracellular domain 1 (ICD1); Intracellular domain 2 (ICD2); C-doma
Protein 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 secretio
PDB 1A8M , 1TNF , 2AZ5 , 2E7A , 2TUN , 2ZJC , 2ZPX , 3ALQ , 3IT8 , 3L9J , 3WD5 , 4G3Y , 4TSV , 4TWT , 4Y6O , 5M2I , 5M2J , 5M2M , 5MU8 , 5TSW , 5UUI , 5WUX , 5YOY , 6OOY , 6OOZ , 6OP0 , 6RMJ , 6X81 , 6X82 , 6X83 , 6X85 , 6X86 , 7ASY , 7AT7 , 7ATB , 7JRA , 7KP9 , 7KPA , 7KPB , 7QLF , 7TA3 , 7TA6 , 8Z8M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00229 TNF 102 233 TNF(Tumour Necrosis Factor) family Domain
Sequence
MSTESMIRDVELAEEALPKKTGGPQGSRRCLFLSLFSFLIVAGATTLFCLLHFGVIGPQR
EEFPRDLSLISPLAQAVRSSSRTPSDKPVAHVVANPQAEGQLQWLNRRANALLANGVELR
DNQLVVPSEGLYLIYSQVLFKGQGCPSTHVLLTHTISRIAVSYQTKVNLLSAIKSPCQRE
TPEGAEAKPWYEPIYLGGVFQLEKGDRLSAEINRPDYLDFAESGQVYFGIIAL
Sequence length 233
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TNF receptor binding, altered Pathogenic rs281865419 RCV000013187
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alzheimer disease, protection against protective rs1800630 RCV000013198
Endometriosis drug response rs1800629 RCV001824024
etanercept response - Efficacy drug response rs1800629 RCV000211242
HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO drug response rs1800629 RCV001807638
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3C syndrome Associate 19753481
Abdominal Pain Associate 31707933
Abnormalities Drug Induced Associate 10540181, 29664552
Abnormalities Drug Induced Stimulate 12032170
Abortion Habitual Associate 18394614, 29017513
Abortion Habitual Stimulate 36495656, 36631028, 9093132
Abortion Missed Associate 28851386
Abortion Spontaneous Associate 11737072, 23202728, 35392343, 35955896
Abortion Spontaneous Stimulate 17482605, 33731680
Abortion Spontaneous Inhibit 21977049, 36096448