TNFRSF4 (TNF receptor superfamily member 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7293
Gene name TNF receptor superfamily member 4
Gene symbol TNFRSF4
Synonyms (NCBI Gene)
ACT35CD134IMD16OX40TXGP1L
Chromosome 1
Chromosome location 1p36.33
Summary The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs587777075 G>A Pathogenic 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001618 Function Virus receptor activity IEA
GO:0002639 Process Positive regulation of immunoglobulin production ISS
GO:0005031 Function Tumor necrosis factor receptor activity IBA
GO:0005031 Function Tumor necrosis factor receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600315 11918 ENSG00000186827
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43489
Protein name Tumor necrosis factor receptor superfamily member 4 (ACT35 antigen) (OX40L receptor) (TAX transcriptionally-activated glycoprotein 1 receptor) (CD antigen CD134)
Protein function Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity. ; (Microbial infection) Acts as a receptor for human herpesvirus 6B/HHV-6B. {ECO:0000269|PubMed:23674671}
PDB 1D0A , 2HEV , 2HEY , 6OGX , 6OKM , 6OKN , 7YK4 , 8AG1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 31 → 64 TNFR/NGFR cysteine-rich region Domain
PF00020 TNFR_c6 67 → 107 TNFR/NGFR cysteine-rich region Domain
PF00020 TNFR_c6 128 → 166 TNFR/NGFR cysteine-rich region Domain
Sequence 
MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQ
NTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYK
PGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQ
GPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLL
RRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (17)
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
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (161)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 21445270, 21476935, 22282196
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 30300827
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 30300827
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 21239696
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 30652238, 9108415
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 30003405
★★★★★
★☆☆☆☆
Found in Text Mining only
Alloimmunisation Alloimmunisation BEFREE 29055003
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 16329997, 18285570, 21445270, 21476935
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28320444, 31300460
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16367941, 19886735 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only