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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TNFRSF9
TNF receptor superfamily member 9
Chromosome 1 Β· 1p36.23
NCBI Gene: 3604Ensembl: ENSG00000049249.11HGNC: HGNC:11924UniProt: Q07011
162PubMed Papers
21Diseases
2Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Trending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsignaling receptor activityregulation of cell population proliferationnegative regulation of cell population proliferationimmunodeficiency 109 with lymphoproliferationhair colorchronic venous hypertensionosteoarthritis, knee
✦AI Summary

TNFRSF9 (4-1BB/CD137) is a TNF receptor superfamily member that functions as a co-stimulatory receptor on T cells, playing a crucial role in immune activation and cancer immunotherapy. The receptor enhances CD8+ T-cell survival, cytotoxicity, and mitochondrial activity when bound by its ligand TNFSF9/4-1BBL 1. In tumor contexts, TNFRSF9 expression serves as an activation marker, with bimodal distribution observed in regulatory T cells (Tregs) within non-small-cell lung cancer, where activated TNFRSF9+ Tregs correlate with poor prognosis 2. The receptor is extensively utilized in chimeric antigen receptor (CAR) T-cell therapies, where 4-1BB co-stimulation promotes superior antitumor activity by reducing PD-1 expression and preventing T-cell exhaustion compared to CD28 co-stimulation 34. Clinical studies demonstrate that 4-1BB-based CAR-T cells show greater persistence and reduced toxicity profiles, though with potentially different efficacy patterns compared to CD28-based constructs 5. The receptor's therapeutic potential extends beyond CAR-T applications, as engineered 4-1BB agonists are being developed for direct cancer immunotherapy, with low-affinity variants showing enhanced clustering and improved immune activation 67.

Sources cited
1
TNFRSF9 functions as a receptor that enhances CD8+ T-cell survival, cytotoxicity, and mitochondrial activity
PMID: 39636970
2
TNFRSF9 shows bimodal distribution in tumor Tregs and activated TNFRSF9+ Tregs correlate with poor prognosis in lung adenocarcinoma
PMID: 29942094
3
4-1BB co-stimulation in CAR-T cells promotes lower PD-1 expression and superior antitumor activity
PMID: 30753824
4
4-1BB costimulation reduces T-cell exhaustion compared to CD28 costimulation in CAR applications
PMID: 25939063
5
4-1BB-based CAR-T cells demonstrate greater persistence and different toxicity profiles compared to CD28-based constructs
PMID: 34230645
6
Low-affinity 4-1BB variants show enhanced clustering and improved immune activation
PMID: 36725933
7
Second-generation 4-1BB agonists are being developed for cancer immunotherapy applications
PMID: 36727218
Disease Associationsβ“˜21
immunodeficiency 109 with lymphoproliferationOpen Targets
0.52Moderate
hair colorOpen Targets
0.29Weak
chronic venous hypertensionOpen Targets
0.27Weak
osteoarthritis, kneeOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
osteoarthritis, hipOpen Targets
0.18Weak
total joint arthroplastyOpen Targets
0.18Weak
neoplasmOpen Targets
0.14Weak
melanomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Suggestive
Townes-Brocks syndromeOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
myeloid sarcomaOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
chronic lymphocytic leukemiaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
B-cell non-Hodgkins lymphomaOpen Targets
0.08Suggestive
Immunodeficiency 109 with lymphoproliferationUniProt
Pathogenic Variants13
NM_001561.6(TNFRSF9):c.100+1G>APathogenic
not provided|Lymphoma|Squamous cell carcinoma of the head and neck
β˜…β˜…β˜†β˜†2025
NM_001561.6(TNFRSF9):c.400C>T (p.Arg134Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 134
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs)Pathogenic
not provided|TNFRSF9-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 193
NM_001561.6(TNFRSF9):c.151_157delinsCCCAGTCCCTGTCCACC (p.Asn51fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 51
NM_001561.6(TNFRSF9):c.58del (p.Arg20fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 20
NM_001561.6(TNFRSF9):c.545-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001561.6(TNFRSF9):c.408G>A (p.Trp136Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 136
NM_001561.6(TNFRSF9):c.328_332del (p.Gln110fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 110
NM_001561.6(TNFRSF9):c.345dup (p.Gly116fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 116
NM_001561.6(TNFRSF9):c.413+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001561.6(TNFRSF9):c.302del (p.Met101fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 101
NM_001561.6(TNFRSF9):c.163del (p.Ser55fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 55
NM_001561.6(TNFRSF9):c.310C>T (p.Gln104Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 104
View on ClinVar β†—
Drug Targets2
URELUMABPhase II
Tumor necrosis factor receptor superfamily member 9 agonist
B-cell non-Hodgkins lymphoma
UTOMILUMABPhase I/II
Tumor necrosis factor receptor superfamily member 9 agonist
cancer
Related Genes
CD70Protein interaction100%CD8AProtein interaction100%TRAF2Protein interaction100%TRAF1Protein interaction100%IFNGProtein interaction99%LGALS9CProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
39%
Brain
30%
Liver
14%
Heart
9%
Ovary
8%
Gene Interaction Network
Click a node to explore
TNFRSF9CD70CD8ATRAF2TRAF1IFNGLGALS9C
PROTEIN STRUCTURE
Preparing viewer…
PDB6A3W Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.54 [0.34–0.89]
RankingsWhere TNFRSF9 stands among ~20K protein-coding genes
  • #2,781of 20,598
    Most Researched162 Β· top quartile
  • #2,577of 5,498
    Most Pathogenic Variants13
  • #7,987of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedTNFRSF9
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Global characterization of T cells in non-small-cell lung cancer by single-cell sequencing.
PMID: 29942094
Nat Med Β· 2018
1.00
2
Target-conditioned diffusion generates potent TNFR superfamily antagonists and agonists.
PMID: 39636970
Science Β· 2024
0.90
3
Antitumor Responses in the Absence of Toxicity in Solid Tumors by Targeting B7-H3 via Chimeric Antigen Receptor T Cells.
PMID: 30753824
Cancer Cell Β· 2019
0.80
4
OMIP-060: 30-Parameter Flow Cytometry Panel to Assess T Cell Effector Functions and Regulatory T Cells.
PMID: 31334913
Cytometry A Β· 2019
0.70
5
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
PMID: 34447369
Front Immunol Β· 2021
0.68