TNFRSF17 (TNF receptor superfamily member 17)

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Gene Gene information from NCBI Gene database.
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Entrez ID 608
Gene name TNF receptor superfamily member 17
Gene symbol TNFRSF17
Synonyms (NCBI Gene)
BCMBCMACD269TNFRSF13A
Chromosome 16
Chromosome location 16p13.13
Summary The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifica
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT021721 hsa-miR-132-3p Microarray 17612493
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
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Transcription factor Regulation Reference
POU2AF1 Activation 17621271
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
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GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002260 Process Lymphocyte homeostasis IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
109545 11913 ENSG00000048462
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02223
Protein name Tumor necrosis factor receptor superfamily member 17 (B-cell maturation protein) (CD antigen CD269)
Protein function Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK. {ECO:0000269|PubMed:10801128, ECO:0000269|PubMed:10903733, ECO:0000269|PubMed:10973
PDB 1OQD , 1XU2 , 2KN1 , 4ZFO , 6J7W , 8HXQ , 8HXR , 8QY9 , 8QYA , 8QYB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09257 BCMA-Tall_bind 8 → 45 BCMA, TALL-1 binding Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in mature B-cells, but not in T-cells or monocytes.
Sequence 
MLQMAGQCSQNEYFDSLLHACIPCQLRCSSNTPPLTCQRYCNASVTNSVKGTNAILWTCL
GLSLIISLAVFVLMFLLRKINSEPLKDEFKNTGSGLLGMANIDLEKSRTGDEIILPRGLE
YTVEECTCEDCIKSKPKVDSDHCFPLPAMEEGATILVTTKTNDYCKSLPAALSATEIEKS
ISAR
Sequence length 184
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
Intestinal immune network for IgA production  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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 Reference Evidence Score
Desmoplastic small round cell tumor other ClinVar —
★★★★★
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Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (91)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29312608
★★★★★
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Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 31116002
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 16960154
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28483281
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia BEFREE 26424128
★★★★★
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Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 17968879, 33483588 Associate
★★★★★
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Found in Text Mining only
Autistic Disorder Autism BEFREE 17666771
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Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 10908663, 12865416, 14764606, 23088438, 26065893 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30078440
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★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 14504101, 26268376
★★★★★
★☆☆☆☆
Found in Text Mining only
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TNFRSF13B 3 shared pathwaysCytokine-cytokine receptor interaction, Intestinal immune network for IgA production, TNFs bind their physiological receptors Related via 3 shared pathways including Cytokine-cytokine receptor interaction, Intestinal immune network for IgA production. TNFRSF9 2 shared pathwaysCytokine-cytokine receptor interaction, TNFs bind their physiological receptors Related via 2 shared pathways including Cytokine-cytokine receptor interaction, TNFs bind their physiological receptors. TNFSF4 2 shared pathwaysCytokine-cytokine receptor interaction, TNFs bind their physiological receptors Related via 2 shared pathways including Cytokine-cytokine receptor interaction, TNFs bind their physiological receptors. TNFRSF4 2 shared pathwaysCytokine-cytokine receptor interaction, TNFs bind their physiological receptors Related via 2 shared pathways including Cytokine-cytokine receptor interaction, TNFs bind their physiological receptors. TNFRSF25 2 shared pathwaysCytokine-cytokine receptor interaction, TNFs bind their physiological receptors Related via 2 shared pathways including Cytokine-cytokine receptor interaction, TNFs bind their physiological receptors.
Dilated cardiomyopathy Linked via 3 of 5 related genesTNFRSF9, TNFSF4, TNFRSF4 Iga nephropathy Linked via 2 of 5 related genesTNFRSF13B, TNFSF4 Respiratory system disease Linked via 2 of 5 related genesTNFRSF13B, TNFSF4 Systemic lupus erythematosus Linked via 2 of 5 related genesTNFRSF13B, TNFSF4 Immunodeficiency Linked via 2 of 5 related genesTNFRSF9, TNFRSF4