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Aliases for TNFRSF4 Gene

Aliases for TNFRSF4 Gene

  • TNF Receptor Superfamily Member 4 2 3 5
  • TAX Transcriptionally-Activated Glycoprotein 1 Receptor 3 4
  • OX40L Receptor 3 4
  • ACT35 Antigen 3 4
  • CD134 Antigen 3 4
  • TXGP1L 3 4
  • Tax-Transcriptionally Activated Glycoprotein 1 Receptor 3
  • Tumor Necrosis Factor Receptor Superfamily, Member 4 2
  • Tumor Necrosis Factor Receptor Superfamily Member 4 3
  • Lymphoid Activation Antigene ACT35 3
  • OX40 Cell Surface Antigen 3
  • OX40 Homologue 3
  • ATC35 Antigen 3
  • OX40 Antigen 3
  • ACT35 3
  • CD134 3
  • IMD16 3
  • OX40 3

External Ids for TNFRSF4 Gene

Previous HGNC Symbols for TNFRSF4 Gene

  • TXGP1L

Previous GeneCards Identifiers for TNFRSF4 Gene

  • GC01M000673
  • GC01M000898
  • GC01M001023
  • GC01M001052
  • GC01M001186
  • GC01M001136
  • GC01M000418

Summaries for TNFRSF4 Gene

Entrez Gene Summary for TNFRSF4 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 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]

GeneCards Summary for TNFRSF4 Gene

TNFRSF4 (TNF Receptor Superfamily Member 4) is a Protein Coding gene. Diseases associated with TNFRSF4 include Immunodeficiency 16 and Acute Graft Versus Host Disease. Among its related pathways are Cytokine Signaling in Immune system and Th2 Differentiation Pathway. Gene Ontology (GO) annotations related to this gene include tumor necrosis factor-activated receptor activity.

UniProtKB/Swiss-Prot for TNFRSF4 Gene

  • 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.

Gene Wiki entry for TNFRSF4 Gene

Additional gene information for TNFRSF4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFRSF4 Gene

Genomics for TNFRSF4 Gene

GeneHancer (GH) Regulatory Elements for TNFRSF4 Gene

Promoters and enhancers for TNFRSF4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I001210 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 1021 7.2 HDGF GLIS2 SCRT2 IKZF2 RUNX3 EGR2 REST ELF1 ZNF623 MYNN TNFRSF4 B3GALT6 TTLL10-AS1 TTLL10 LINC01786 UBE2J2 ATAD3B ANKRD65 SDF4 AURKAIP1
GH01I001204 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.1 +7.4 7372 4.8 HDGF ARNT ZNF133 GLIS2 FOS RUNX3 YY2 REST TSHZ1 ZNF623 TNFRSF18 CCNL2 ENSG00000240731 LOC100288379 MXRA8 SLC35E2 ANKRD65 ENSG00000230092 VWA1 LOC100129381
GH01I001413 Enhancer 0.2 FANTOM5 16.2 -198.7 -198673 0 GC01M001386 TNFRSF4 TNFRSF18 ANKRD65 ATAD3C TMEM88B GC01P001410
GH01I001229 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 0.4 -16.7 -16684 3.5 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 ZNF207 B3GALT6 SDF4 CCNL2 ENSG00000240731 LOC100288379 INTS11 ATAD3B ENSG00000234396 LINC00115 FAM87B
GH01I001222 Enhancer 0.6 dbSUPER 0.4 -8.4 -8355 0.8 SUZ12 ZNF121 ARID2 GMEB1 TARDBP NFATC1 ZBTB33 KDM1A KLF8 SUPT5H B3GALT6 UBE2J2 LINC01786 TTLL10-AS1 TTLL10 TNFRSF4 SDF4 GC01M001138
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TNFRSF4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNFRSF4 gene promoter:

Genomic Locations for TNFRSF4 Gene

Genomic Locations for TNFRSF4 Gene
chr1:1,211,326-1,214,638
(GRCh38/hg38)
Size:
3,313 bases
Orientation:
Minus strand
chr1:1,146,706-1,149,548
(GRCh37/hg19)

Genomic View for TNFRSF4 Gene

Genes around TNFRSF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF4 Gene

Proteins for TNFRSF4 Gene

  • Protein details for TNFRSF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43489-TNR4_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 4
    Protein Accession:
    P43489
    Secondary Accessions:
    • Q13663
    • Q2M312
    • Q5T7M0

    Protein attributes for TNFRSF4 Gene

    Size:
    277 amino acids
    Molecular mass:
    29341 Da
    Quaternary structure:
    • Interacts with TRAF2, TRAF3 and TRAF5.
    • (Microbial infection) Interacts with Human herpesvirus 6B/HHV-6B gQ1:gQ2 proteins.
    SequenceCaution:
    • Sequence=AAB33944.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNFRSF4 Gene

neXtProt entry for TNFRSF4 Gene

Post-translational modifications for TNFRSF4 Gene

  • Glycosylation at posLast=146146 and posLast=160160

Other Protein References for TNFRSF4 Gene

Antibody Products

  • R&D Systems Antibodies for TNFRSF4 (OX40/TNFRSF4)
  • Cell Signaling Technology (CST) Antibodies for TNFRSF4 (TNFRSF4)

Protein Products

No data available for DME Specific Peptides for TNFRSF4 Gene

Domains & Families for TNFRSF4 Gene

Gene Families for TNFRSF4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TNFRSF4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TNFRSF4: view

No data available for UniProtKB/Swiss-Prot for TNFRSF4 Gene

Function for TNFRSF4 Gene

Molecular function for TNFRSF4 Gene

GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 4,tax-transcriptionally activated glycoprotein 1 receptor
UniProtKB/Swiss-Prot Function:
Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for human herpesvirus 6B/HHV-6B.

Gene Ontology (GO) - Molecular Function for TNFRSF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005031 tumor necrosis factor-activated receptor activity TAS 7737295
GO:0005515 protein binding IPI 16905106
genes like me logo Genes that share ontologies with TNFRSF4: view
genes like me logo Genes that share phenotypes with TNFRSF4: view

Human Phenotype Ontology for TNFRSF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF4 Gene

MGI Knock Outs for TNFRSF4:

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for TNFRSF4 Gene

Localization for TNFRSF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF4 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNFRSF4 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for TNFRSF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7510240
GO:0009986 cell surface IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TNFRSF4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNFRSF4 Gene

Pathways & Interactions for TNFRSF4 Gene

genes like me logo Genes that share pathways with TNFRSF4: view

Pathways by source for TNFRSF4 Gene

1 Cell Signaling Technology pathway for TNFRSF4 Gene
1 BioSystems pathway for TNFRSF4 Gene
1 KEGG pathway for TNFRSF4 Gene
1 GeneGo (Thomson Reuters) pathway for TNFRSF4 Gene
1 R&D Systems pathway for TNFRSF4 Gene

SIGNOR curated interactions for TNFRSF4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TNFRSF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IBA --
GO:0006955 immune response TAS 7510240
GO:0007275 multicellular organism development IBA --
GO:0016032 viral process IEA --
GO:0030890 positive regulation of B cell proliferation ISS --
genes like me logo Genes that share ontologies with TNFRSF4: view

Drugs & Compounds for TNFRSF4 Gene

(3) Drugs for TNFRSF4 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
OX-40 ligand Pharma 0
genes like me logo Genes that share compounds with TNFRSF4: view

Transcripts for TNFRSF4 Gene

mRNA/cDNA for TNFRSF4 Gene

(7) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TNFRSF4 Gene

Tumor necrosis factor receptor superfamily, member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF4 Gene

No ASD Table

Relevant External Links for TNFRSF4 Gene

GeneLoc Exon Structure for
TNFRSF4
ECgene alternative splicing isoforms for
TNFRSF4

Expression for TNFRSF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNFRSF4 Gene

mRNA differential expression in normal tissues according to GTEx for TNFRSF4 Gene

This gene is overexpressed in Spleen (x6.3) and Whole Blood (x5.4).

NURSA nuclear receptor signaling pathways regulating expression of TNFRSF4 Gene:

TNFRSF4

SOURCE GeneReport for Unigene cluster for TNFRSF4 Gene:

Hs.129780

Evidence on tissue expression from TISSUES for TNFRSF4 Gene

  • Nervous system(4.1)
  • Blood(2.8)
  • Lymph node(2.6)
  • Spleen(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
Organs:
Head and neck:
  • head
  • mouth
  • nose
Abdomen:
  • spleen
Pelvis:
  • anus
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TNFRSF4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TNFRSF4 Gene

Orthologs for TNFRSF4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF4 33
  • 87.96 (n)
cow
(Bos Taurus)
Mammalia TNFRSF4 33 34
  • 74.4 (n)
dog
(Canis familiaris)
Mammalia TNFRSF4 33 34
  • 72.01 (n)
mouse
(Mus musculus)
Mammalia Tnfrsf4 33 16 34
  • 71.68 (n)
rat
(Rattus norvegicus)
Mammalia Tnfrsf4 33
  • 68.97 (n)
oppossum
(Monodelphis domestica)
Mammalia TNFRSF4 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNFRSF4 33 34
  • 44.9 (n)
lizard
(Anolis carolinensis)
Reptilia TNFRSF4 34
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnfrsf4 33
  • 45.21 (n)
Species where no ortholog for TNFRSF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TNFRSF4 Gene

ENSEMBL:
Gene Tree for TNFRSF4 (if available)
TreeFam:
Gene Tree for TNFRSF4 (if available)

Paralogs for TNFRSF4 Gene

No data available for Paralogs for TNFRSF4 Gene

Variants for TNFRSF4 Gene

Sequence variations from dbSNP and Humsavar for TNFRSF4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs150516264 likely-benign, Immunodeficiency 16 1,213,069(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs201461846 likely-benign, Immunodeficiency 16 1,211,957(-) C/T coding_sequence_variant, missense_variant
rs34160451 benign, Immunodeficiency 16 1,213,065(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs35160621 benign, Immunodeficiency 16 1,211,585(-) G/A coding_sequence_variant, synonymous_variant
rs35304565 benign, Immunodeficiency 16 1,214,100(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TNFRSF4 Gene

Variant ID Type Subtype PubMed ID
dgv24n54 CNV loss 21841781
dgv2n67 CNV gain 20364138
nsv1003578 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1160644 CNV deletion 26073780
nsv1160772 CNV duplication 26073780
nsv428334 CNV gain 18775914
nsv469848 CNV gain 16826518
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv517709 CNV gain+loss 19592680
nsv544947 CNV loss 21841781
nsv544956 CNV loss 21841781
nsv544963 CNV loss 21841781
nsv950452 CNV deletion 24416366

Variation tolerance for TNFRSF4 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFRSF4 Gene

Human Gene Mutation Database (HGMD)
TNFRSF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFRSF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF4 Gene

Disorders for TNFRSF4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TNFRSF4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 16
  • imd16
acute graft versus host disease
  • acute gvhd
nodular goiter
  • goiter, nodular
tropical spastic paraparesis
  • htlv-associated myelopathy
childhood oligodendroglioma
  • pediatric oligodendroglioma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNR4_HUMAN
  • Immunodeficiency 16 (IMD16) [MIM:615593]: An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency. {ECO:0000269 PubMed:23897980}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TNFRSF4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNFRSF4: view

No data available for Genatlas for TNFRSF4 Gene

Publications for TNFRSF4 Gene

  1. The human OX40 homolog: cDNA structure, expression and chromosomal assignment of the ACT35 antigen. (PMID: 7510240) Latza U … Stein H (European journal of immunology 1994) 2 3 4 22 58
  2. Human genetic evidence that OX40 is implicated in myocardial infarction. (PMID: 16329997) Ria M … Lagercrantz J (Biochemical and biophysical research communications 2006) 3 22 44 58
  3. The HTLV-I tax protein transcriptionally modulates OX40 antigen expression. (PMID: 10861060) Pankow R … Bulfone-Paus S (Journal of immunology (Baltimore, Md. : 1950) 2000) 3 4 22 58
  4. Activation of OX40 signal transduction pathways leads to tumor necrosis factor receptor-associated factor (TRAF) 2- and TRAF5-mediated NF-kappaB activation. (PMID: 9488716) Kawamata S … Uchiyama T (The Journal of biological chemistry 1998) 3 4 22 58
  5. CD134 is a cellular receptor specific for human herpesvirus-6B entry. (PMID: 23674671) Tang H … Mori Y (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58

Products for TNFRSF4 Gene

Sources for TNFRSF4 Gene

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