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Gene Symbol |
TNFRSF1B |
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Aliases |
CD120b, TBPII, TNF-R-II, TNF-R75, TNFBR, TNFR1B, TNFR2, TNFR80, p75, p75TNFR |
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Entrez Gene ID |
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Gene Name |
TNF receptor superfamily member 1B |
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Chromosomal Location |
1p36.22 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Tumor necrosis factor receptor superfamily member 1B, TNF-R2, TNF-RII, p75 TNF receptor, p80 TNF-alpha receptor, soluble TNFR1B variant 1, tumor necrosis factor beta receptor, tumor necrosis factor binding protein 2, tumor necrosis factor receptor 2, tumor necrosis factor receptor type II |
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Function |
Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Isoform 2 blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity. |
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UniProt |
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PDB |
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Pfam |
Pfam Accession |
Pfam ID |
PF00020 |
TNFR_c6 |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000243924 |
P19957 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Anemia |
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Digestive System Diseases |
Non-alcoholic Fatty Liver Disease |
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Liver Fibrosis |
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Liver Cirrhosis |
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Endocrine System Diseases |
Diabetes Mellitus |
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PCOS |
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Neoplasms |
Lymphoma |
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Nervous System Diseases |
Cerebral Ischemia |
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Nutritional and Metabolic Diseases |
Obesity |
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Gluocose Intolerance |
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Psychiatric/Brain disorders |
Mental Depression |
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Schizophrenia |
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Autistic Disorder |
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Respiratory Tract Diseases |
Pneumonia |
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References |
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Peral Belen, San Millan Jose L, Castello Roberto, Moghetti Paolo, Escobar-Morreale Hector F |
Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas, 28029 Madrid, Spain. |
J Clin Endocrinol Metab. 2002 Aug;87(8):3977-83. doi: 10.1210/jcem.87.8.8715. |
Abstract
Inflammatory cytokines such as TNF alpha may play a role in the pathogenesis of common metabolic disorders, including hyperandrogenism and the polycystic ovary syndrome (PCOS). The TNF receptor 2 mediates most of the metabolic effects of TNF alpha. In the present study, we have evaluated serum soluble TNF receptor 2 levels, and several common polymorphisms in the TNF receptor 2 gene (TNFRSF1B), in women presenting with PCOS or hyperandrogenic disorders. Initial studies included 103 hyperandrogenic patients (42 presenting with PCOS) and 36 controls from Spain. The 196R alleles of the M196R (676 T-->G) variant in exon 6 of TNFRSF1B, which is in linkage disequilibrium with a CA-repeat microsatellite polymorphism in intron 4 of TNFRSF1B, tended to be more frequent in hyperandrogenic patients than in controls (P = 0.056), reaching statistical significance when the analysis was restricted to include only PCOS patients (P < 0.03). Extended analysis including another 11 hyperandrogenic patients from Spain and 64 patients and 29 controls from Italy confirmed the association between 196R alleles of the M196R variant and hyperandrogenic disorders (P < 0.05), which was maintained when restricting the analysis to PCOS patients (P < 0.02). On the contrary, the 3'-untranslated region (exon 10) variants 1663 G-->A, 1668 T-->G, and 1690 T-->C were not associated with hyperandrogenism. The soluble TNF receptor 2 levels were not different between patients and controls but were increased in obese subjects, compared with lean individuals, and were affected by the interaction between the 1663 G-->A and 1668 T-->G variants in the 3'-untranslated region of TNFRSF1B. The TNFRSF1B genotype did not influence any clinical or biochemical variable related to hyperandrogenism or insulin sensitivity and was not associated with obesity, both in hyperandrogenic patients and healthy controls considered separately. In conclusion, the M196R (676 T-->G) variant in exon 6 of TNFRSF1B is associated with hyperandrogenism and PCOS, further suggesting a role for inflammatory cytokines in the pathogenesis of these disorders. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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