TNFRSF4 TNF receptor superfamily member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNFRSF4provided by HGNC
Official Full Name: TNF receptor superfamily member 4provided by HGNC
Primary source: HGNC:HGNC:11918
See related: Ensembl:ENSG00000186827 MIM:600315; AllianceGenome:HGNC:11918
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OX40; ACT35; CD134; IMD16; TXGP1L
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 the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 2.7), lymph node (RPKM 1.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1211340..1214153, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (639797..642610, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1146720..1149533, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Title: The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Identification and validation of TNFRSF4 as a high-profile biomarker for prognosis and immunomodulation in endometrial carcinoma.
Title: Identification and validation of TNFRSF4 as a high-profile biomarker for prognosis and immunomodulation in endometrial carcinoma.
Clinical Significance of OX40 and OX40 Ligand in the Peripheral Blood of Patients with Myasthenia Gravis.
Title: Clinical Significance of OX40 and OX40 Ligand in the Peripheral Blood of Patients with Myasthenia Gravis.
DNA Methylation and mRNA Expression of OX40 (TNFRSF4) and GITR (TNFRSF18, AITR) in Head and Neck Squamous Cell Carcinoma Correlates With HPV Status, Mutational Load, an Interferon-gamma Signature, Signatures of Immune Infiltrates, and Survival.
Title: DNA Methylation and mRNA Expression of OX40 (TNFRSF4) and GITR (TNFRSF18, AITR) in Head and Neck Squamous Cell Carcinoma Correlates With HPV Status, Mutational Load, an Interferon-γ Signature, Signatures of Immune Infiltrates, and Survival.
The role of tumor necrosis factor receptor superfamily member 4 (TNFRSF4) gene expression in diagnosis and prognosis of acute myeloid leukemia.
Title: The role of tumor necrosis factor receptor superfamily member 4 (TNFRSF4) gene expression in diagnosis and prognosis of acute myeloid leukemia.
Roles of OX40 and OX40 Ligand in Mycosis Fungoides and Sezary Syndrome.
Title: Roles of OX40 and OX40 Ligand in Mycosis Fungoides and Sézary Syndrome.
Safety and Clinical Activity of MEDI0562, a Humanized OX40 Agonist Monoclonal Antibody, in Adult Patients with Advanced Solid Tumors.
Title: Safety and Clinical Activity of MEDI0562, a Humanized OX40 Agonist Monoclonal Antibody, in Adult Patients with Advanced Solid Tumors.
OX40 genetic variations in patients with breast cancer: a case-control study.
Title: OX40 genetic variations in patients with breast cancer: a case-control study.
Peripheral TIGIT+ T Follicular Helper Cells That Produce High Levels of Interleukin-21 via OX40 Represent Disease Activity in IgG4-Related Disease.
Title: Peripheral TIGIT+ T Follicular Helper Cells That Produce High Levels of Interleukin-21 <i>via</i> OX40 Represent Disease Activity in IgG4-Related Disease.
OX40L/OX40 Signal Promotes IL-9 Production by Mucosal MAIT Cells During Helicobacter pylori Infection.
Title: OX40L/OX40 Signal Promotes IL-9 Production by Mucosal MAIT Cells During <i>Helicobacter pylori</i> Infection.

Submit: New GeneRIF Correction See all GeneRIFs (101)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined immunodeficiency due to OX40 deficiency MedGen: C3810053 OMIM: 615593 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of tumor necrosis factor receptor superfamily, member 4 (TNFRSF4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the TNFRSF4 gene: The TNFRSF4 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 298 organisms have orthologs with human gene TNFRSF4
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tumor necrosis factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of immunoglobulin production	ISS Inferred from Sequence or Structural Similarity more info
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in viral entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tumor necrosis factor receptor superfamily member 4

Names: ACT35 antigen; ATC35 antigen; CD134 antigen; OX40 antigen; OX40 cell surface antigen; OX40 homologue; OX40L receptor; TAX transcriptionally-activated glycoprotein 1 receptor; lymphoid activation antigene ACT35; tax-transcriptionally activated glycoprotein 1 receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046896.1 RefSeqGene

Range

5486..8299

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1319

mRNA and Protein(s)

NM_001410709.1 → NP_001397638.1 tumor necrosis factor receptor superfamily member 4 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL162741
NM_003327.4 → NP_003318.1 tumor necrosis factor receptor superfamily member 4 isoform 1 precursor

See identical proteins and their annotated locations for NP_003318.1

Status: REVIEWED

Source sequence(s)

BC105070

Consensus CDS

CCDS11.1

UniProtKB/Swiss-Prot

P43489, Q5T7M0

Related

ENSP00000368538.3, ENST00000379236.4

Conserved Domains (1) summary

cd13406
Location:29 → 170

TNFRSF4; Tumor necrosis factor receptor superfamily member 4 (TNFRSF4), also known as CD134 or OXO40

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1211340..1214153 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542075.3 → XP_011540377.1 tumor necrosis factor receptor superfamily member 4 isoform X2

Related

ENSP00000514730.1, ENST00000699974.1

Conserved Domains (1) summary

cd13406
Location:29 → 170

TNFRSF4; Tumor necrosis factor receptor superfamily member 4 (TNFRSF4), also known as CD134 or OXO40
XM_011542076.3 → XP_011540378.1 tumor necrosis factor receptor superfamily member 4 isoform X3

Related

ENST00000699972.1

Conserved Domains (1) summary

cl22855
Location:95 → 174

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_011542074.3 → XP_011540376.1 tumor necrosis factor receptor superfamily member 4 isoform X1

See identical proteins and their annotated locations for XP_011540376.1

Related

ENST00000497869.5

Conserved Domains (1) summary

cl22855
Location:95 → 174

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_011542077.3 → XP_011540379.1 tumor necrosis factor receptor superfamily member 4 isoform X4

Conserved Domains (1) summary

cl22855
Location:24 → 70

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)