Gene Gene information from NCBI Gene database.
Entrez ID 3604
Gene name TNF receptor superfamily member 9
Gene symbol TNFRSF9
Synonyms (NCBI Gene)
4-1BBCD137CDw137ILAIMD109
Chromosome 1
Chromosome location 1p36.23
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 induc
miRNA miRNA information provided by mirtarbase database.
659
miRTarBase ID miRNA Experiments Reference
MIRT017048 hsa-miR-335-5p Microarray 18185580
MIRT027444 hsa-miR-98-5p Microarray 19088304
MIRT613861 hsa-miR-1226-3p HITS-CLIP 19536157
MIRT613860 hsa-miR-4733-3p HITS-CLIP 19536157
MIRT613859 hsa-miR-4267 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Unknown 12706838
RELA Unknown 12706838
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 8262389
GO:0006915 Process Apoptotic process IEA
GO:0006915 Process Apoptotic process TAS 8639902
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602250 11924 ENSG00000049249
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07011
Protein name Tumor necrosis factor receptor superfamily member 9 (4-1BB ligand receptor) (CDw137) (T-cell antigen 4-1BB homolog) (T-cell antigen ILA) (CD antigen CD137)
Protein function Receptor for TNFSF9/4-1BBL. Conveys a signal that enhances CD8(+) T-cell survival, cytotoxicity, and mitochondrial activity, thereby promoting immunity against viruses and tumors (Probable).
PDB 6A3V , 6A3W , 6BWV , 6CPR , 6CU0 , 6MGP , 6MHR , 6MI2 , 6Y8K , 7D4B , 7YXU , 8GYE , 8OZ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 48 86 TNFR/NGFR cysteine-rich region Domain
Tissue specificity TISSUE SPECIFICITY: Expressed on the surface of activated T-cells. {ECO:0000269|PubMed:30872117}.
Sequence
MGNSCYNIVATLLLVLNFERTRSLQDPCSNCPAGTFCDNNRNQICSPCPPNSFSSAGGQR
TCDICRQCKGVFRTRKECSSTSNAEC
DCTPGFHCLGAGCSMCEQDCKQGQELTKKGCKDC
CFGTFNDQKRGICRPWTNCSLDGKSVLVNGTKERDVVCGPSPADLSPGASSVTPPAPARE
PGHSPQIISFFLALTSTALLFLLFFLTLRFSVVKRGRKKLLYIFKQPFMRPVQTTQEEDG
CSCRFPEEEEGGCEL
Sequence length 255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lymphoma Pathogenic rs754024907 RCV005925552
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck Pathogenic rs754024907 RCV005925551
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNFRSF9-related disorder Likely pathogenic; Pathogenic rs1639761448 RCV002291303
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 22282196, 30359586
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 29861382
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 14961035, 27548616, 29637550, 29861382
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27388616
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18461674
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 31201235
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 14961035, 29861382
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 31058559, 31616638
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28947567
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 18285570, 25032953, 28288971, 28747613, 28755037, 29571029, 30778712, 30978132, 31177061
★☆☆☆☆
Found in Text Mining only