Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7124
Gene name Gene Name - the full gene name approved by the HGNC.
Tumor necrosis factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNF
Synonyms (NCBI Gene) Gene synonyms aliases
DIF, IMD127, TNF-alpha, TNFA, TNFSF2, TNLG1F
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 Immunoblot, Luciferase reporter assay, qRT-PCR 23071313
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191160 11892 ENSG00000232810
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer disease, protection against N/A N/A ClinVar
Asthma Asthma (childhood onset) N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Endometriosis endometriosis N/A N/A ClinVar
Associations from Text Mining Disease 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