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

Summary

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
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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.
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.
Soluble CD137: A Potential Prognostic Biomarker in Critically Ill Patients.
Title: Soluble CD137: A Potential Prognostic Biomarker in Critically Ill Patients.
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.
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.
FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB.
Title: FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB.
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.
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.
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.
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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64183 (e-PCR)
- UniSTS:6188

D8S2279 (e-PCR)
- UniSTS:473907

RH17617 (e-PCR)
- UniSTS:17730

SHGC-35316 (e-PCR)
- UniSTS:69447

D11S3114 (e-PCR)
- UniSTS:152207

RH91876 (e-PCR)
- UniSTS:85938

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

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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)

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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_052834.1 RefSeqGene

Range

7327..32295

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

7915871..7940839 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

7446742..7471701 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336415.1 → XP_054192390.1 tumor necrosis factor receptor superfamily member 9 isoform X1
XM_054336416.1 → XP_054192391.1 tumor necrosis factor receptor superfamily member 9 isoform X2