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    TNFSF4 TNF superfamily member 4 [ Homo sapiens (human) ]

    Gene ID: 7292, updated on 3-Dec-2024

    Summary

    Official Symbol
    TNFSF4provided by HGNC
    Official Full Name
    TNF superfamily member 4provided by HGNC
    Primary source
    HGNC:HGNC:11934
    See related
    Ensembl:ENSG00000117586 MIM:603594; AllianceGenome:HGNC:11934
    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
    GP34; CD252; OX4OL; TXGP1; CD134L; OX-40L; TNLG2B
    Summary
    This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TNFSF4 in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (173172870..173450733, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (172541831..172768144, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173152870..173176470, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173091817-173092382 Neighboring gene Sharpr-MPRA regulatory region 615 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:173133798-173134358 Neighboring gene GOT2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2098 Neighboring gene uncharacterized LOC100506023 Neighboring gene uncharacterized LOC124904846 Neighboring gene MPRA-validated peak458 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2103 Neighboring gene ribosomal protein L26 pseudogene 11 Neighboring gene centrosomal protein 57kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2111 Neighboring gene Sharpr-MPRA regulatory region 8886 Neighboring gene PRDX6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2112 Neighboring gene Sharpr-MPRA regulatory region 679 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173429231-173429730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173445479-173446015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2113 Neighboring gene uncharacterized LOC124904456 Neighboring gene MPRA-validated peak459 silencer Neighboring gene Sharpr-MPRA regulatory region 4744 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 Neighboring gene peroxiredoxin 6 Neighboring gene solute carrier family 9 member C2 (putative)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Myocardial infarction, susceptibility to
    MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables tumor necrosis factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tumor necrosis factor receptor superfamily binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tumor necrosis factor receptor superfamily binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in T-helper 2 cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in acute inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to prostaglandin E stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to nematode ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in memory T cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 negative regulation of T-helper 1 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of interleukin-17 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of regulatory T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of type II interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of B cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of CD4-positive, alpha-beta T cell costimulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of CD4-positive, alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of T-helper 2 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of alpha-beta T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of chemokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of immunoglobulin mediated immune response 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 positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-10 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-12 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-13 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-4 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-4-dependent isotype switching to IgE isotypes ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of memory T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of type 2 immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of adaptive immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to nitrogen dioxide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tumor necrosis factor ligand superfamily member 4
    Names
    CD134 ligand
    OX40 antigen ligand
    glycoprotein Gp34
    tax-transcriptionally activated glycoprotein 1 (34kD)
    tumor necrosis factor (ligand) superfamily member 4
    tumor necrosis factor ligand 2B
    tumor necrosis factor superfamily member 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_011477.2 RefSeqGene

      Range
      248402..272002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297562.2NP_001284491.1  tumor necrosis factor ligand superfamily member 4 isoform 2

      See identical proteins and their annotated locations for NP_001284491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC041663, R45433
      Consensus CDS
      CCDS72985.1
      UniProtKB/Swiss-Prot
      P23510
      Related
      ENSP00000356691.1, ENST00000367718.5
      Conserved Domains (1) summary
      smart00207
      Location:24133
      TNF; Tumour necrosis factor family
    2. NM_003326.5NP_003317.1  tumor necrosis factor ligand superfamily member 4 isoform 1

      See identical proteins and their annotated locations for NP_003317.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL022310, BC041663, R45433, X79929
      Consensus CDS
      CCDS1306.1
      UniProtKB/Swiss-Prot
      P23510, Q5JZA5, Q8IV74, Q9HCN9
      UniProtKB/TrEMBL
      A0A024R937, A0A0U5CJ97, Q6FGS4
      Related
      ENSP00000281834.3, ENST00000281834.4
      Conserved Domains (1) summary
      smart00207
      Location:74183
      TNF; Tumour necrosis factor family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      173172870..173450733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429908.1XP_047285864.1  tumor necrosis factor ligand superfamily member 4 isoform X5

    2. XM_047429896.1XP_047285852.1  tumor necrosis factor ligand superfamily member 4 isoform X2

    3. XM_047429902.1XP_047285858.1  tumor necrosis factor ligand superfamily member 4 isoform X4

      UniProtKB/TrEMBL
      Q6FGS4
    4. XM_011509964.3XP_011508266.2  tumor necrosis factor ligand superfamily member 4 isoform X1

    5. XM_017002228.2XP_016857717.1  tumor necrosis factor ligand superfamily member 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      172541831..172768144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338602.1XP_054194577.1  tumor necrosis factor ligand superfamily member 4 isoform X4

      UniProtKB/TrEMBL
      Q6FGS4
    2. XM_054338600.1XP_054194575.1  tumor necrosis factor ligand superfamily member 4 isoform X1

    3. XM_054338601.1XP_054194576.1  tumor necrosis factor ligand superfamily member 4 isoform X3