U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    TNFRSF9 TNF receptor superfamily member 9 [ Homo sapiens (human) ]

    Gene ID: 3604, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    TNFRSF9provided by HGNC
    Official Full Name
    TNF receptor superfamily member 9provided by HGNC
    Primary source
    HGNC:HGNC:11924
    See related
    Ensembl:ENSG00000049249 MIM:602250; AllianceGenome:HGNC:11924
    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
    ILA; 4-1BB; CD137; CDw137; IMD109
    Summary
    The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lymph node (RPKM 2.6), appendix (RPKM 1.1) and 6 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See TNFRSF9 in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (7915871..7940839, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7446742..7471701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (7975931..8000899, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903833 Neighboring gene period circadian regulator 3 Neighboring gene MPRA-validated peak42 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:7886590-7887789 Neighboring gene NANOG hESC enhancer GRCh37_chr1:7912645-7913333 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:7929285-7930484 Neighboring gene urotensin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:7935645-7936144 Neighboring gene NANOG hESC enhancer GRCh37_chr1:7970949-7971450 Neighboring gene tRNA-undetermined (NNN) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 92 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 93 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:8020839-8021622 and GRCh37_chr1:8021623-8022406 Neighboring gene Parkinsonism associated deglycase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 98 Neighboring gene NANOG hESC enhancer GRCh37_chr1:8051898-8052428 Neighboring gene uncharacterized LOC124903834 Neighboring gene Sharpr-MPRA regulatory region 3725

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues 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

    Go to the top of the pageHelp

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD137 expression and signal function drive pleiotropic gammadelta T-cell effector functions that inhibit intracellular M. tuberculosis growth.
      Title: CD137 expression and signal function drive pleiotropic γδ T-cell effector functions that inhibit intracellular M. tuberculosis growth.
    2. Multiplex spatial analysis reveals increased CD137 expression and m-MDSC neighboring tumor cells in refractory classical Hodgkin Lymphoma.
      Title: Multiplex spatial analysis reveals increased CD137 expression and m-MDSC neighboring tumor cells in refractory classical Hodgkin Lymphoma.
    3. Soluble CD137: A Potential Prognostic Biomarker in Critically Ill Patients.
      Title: Soluble CD137: A Potential Prognostic Biomarker in Critically Ill Patients.
    4. Targeting neuropilin-1 abolishes anti-PD-1-upregulated regulatory T cells and synergizes with 4-1BB agonist for liver cancer treatment.
      Title: Targeting neuropilin-1 abolishes anti-PD-1-upregulated regulatory T cells and synergizes with 4-1BB agonist for liver cancer treatment.
    5. Epstein-Barr virus-induced ectopic CD137 expression helps nasopharyngeal carcinoma to escape immune surveillance and enables targeting by chimeric antigen receptors.
      Title: Epstein-Barr virus-induced ectopic CD137 expression helps nasopharyngeal carcinoma to escape immune surveillance and enables targeting by chimeric antigen receptors.
    6. FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB.
      Title: FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB.
    7. Galectin-3 Decreases 4-1BBL Bioactivity by Crosslinking Soluble and Membrane Expressed 4-1BB.
      Title: Galectin-3 Decreases 4-1BBL Bioactivity by Crosslinking Soluble and Membrane Expressed 4-1BB.
    8. Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes.
      Title: Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes.
    9. CD137 (4-1BB) stimulation leads to metabolic and functional reprogramming of human monocytes/macrophages enhancing their tumoricidal activity.
      Title: CD137 (4-1BB) stimulation leads to metabolic and functional reprogramming of human monocytes/macrophages enhancing their tumoricidal activity.
    10. Transient mTOR inhibition rescues 4-1BB CAR-Tregs from tonic signal-induced dysfunction.
      Title: Transient mTOR inhibition rescues 4-1BB CAR-Tregs from tonic signal-induced dysfunction.
    Submit: New GeneRIF Correction See all GeneRIFs (117)

    Phenotypes

    Go to the top of the page Help

    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
    Immunodeficiency 109 with lymphoproliferation
    MedGen: C5830346 OMIM: 620282 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

    Go to the top of the page Help

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of tumor necrosis factor receptor superfamily, member 9 (TNFRSF9) in human B cells PubMed
    Nef nef HIV-1 Nef-stimulated CD8+ T cells upregulate mRNAs expression for IFN-gamma, MIP-1alpha, MIP-1alphaP, MIP-1beta, TNFRSF9, XCL1, and GM-CSF compared to unstimulated cells PubMed
    Tat tat HIV-1 Tat upregulates the expression of tumor necrosis factor receptor superfamily, member 9 (TNFRSF9, CD137) in human primary T cells PubMed
    capsid gag HIV-1 CA-stimulated CD8+ T cells upregulate mRNAs expression for IFN-gamma, MIP-1alpha, MIP-1alphaP, MIP-1beta, TNFRSF9, XCL1, and GM-CSF compared to unstimulated cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC2172, FLJ43501

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of immature T cell proliferation in thymus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    tumor necrosis factor receptor superfamily member 9
    Names
    4-1BB ligand receptor
    CD137 antigen
    T cell antigen ILA
    T-cell antigen 4-1BB homolog
    homolog of mouse 4-1BB
    induced by lymphocyte activation (ILA)
    interleukin-activated receptor, homolog of mouse Ly63
    receptor protein 4-1BB

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_052834.1 RefSeqGene

      Range
      7327..32295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001561.6 → NP_001552.2  tumor necrosis factor receptor superfamily member 9 precursor

      See identical proteins and their annotated locations for NP_001552.2

      Status: REVIEWED

      Source sequence(s)
      AL009183, BC006196, BP381234
      Consensus CDS
      CCDS92.1
      UniProtKB/Swiss-Prot
      Q07011
      Related
      ENSP00000366729.3, ENST00000377507.8
      Conserved Domains (1) summary
      cd13410
      Location:23 → 160
      TNFRSF9; Tumor necrosis factor receptor superfamily member 9 (TNFRSF9), also known as CD137

    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
      7915871..7940839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710618.4 → XP_006710681.1  tumor necrosis factor receptor superfamily member 9 isoform X1

      Conserved Domains (1) summary
      cd13410
      Location:23 → 160
      TNFRSF9; Tumor necrosis factor receptor superfamily member 9 (TNFRSF9), also known as CD137

    2. XM_047419672.1 → XP_047275628.1  tumor necrosis factor receptor superfamily member 9 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      7446742..7471701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336415.1 → XP_054192390.1  tumor necrosis factor receptor superfamily member 9 isoform X1

    2. XM_054336416.1 → XP_054192391.1  tumor necrosis factor receptor superfamily member 9 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07011.1 GenPept UniProtKB/Swiss-Prot:Q07011

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous