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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
242
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
TNF receptor binding, altered Pathogenic rs281865419 RCV000013187
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Alzheimer disease, protection against protective ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 28834898, 30400666
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 29608374
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans BEFREE 30724385
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 30822345
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 20386917, 20861605, 22835835, 24334867, 24498378, 26373312
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 20386917, 20861605, 22835835, 24334867, 24498378, 26373312
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 25738867, 29018206
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 11472434, 9550427
★☆☆☆☆
Found in Text Mining only
Acro-Osteolysis Acrosteolysis BEFREE 31371452
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 23379751
★☆☆☆☆
Found in Text Mining only