TNFRSF4 (TNF receptor superfamily member 4)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7293
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF4
Synonyms (NCBI Gene) Gene synonyms aliases
ACT35, CD134, IMD16, OX40, TXGP1L
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600315 11918 ENSG00000186827
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency combined immunodeficiency due to ox40 deficiency rs587777075 N/A
Show/Hide Text Mining Associations (116)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 18362907
Acute Coronary Syndrome Associate 21445270, 22282196
Adenocarcinoma Associate 34133324
Adenocarcinoma Mucinous Associate 23382860
Arthritis Rheumatoid Associate 16367941, 19886735
Asthma Associate 20139223
Atherosclerosis Associate 21445270
Autoimmune Diseases Associate 22870213, 30944836
Bile Duct Neoplasms Associate 28053236
Breast Neoplasms Associate 23502335, 28537889, 31292534