[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/bbs2-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/bbs2-wikipedia\/","headline":"BBS2 – Wikipedia","name":"BBS2 – Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Protein-coding gene in the species Homo sapiens Bardet\u2013Biedl syndrome 2 protein is a","datePublished":"2019-08-26","dateModified":"2019-08-26","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/bbs2-wikipedia\/","wordCount":4126,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Protein-coding gene in the species Homo sapiensBardet\u2013Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.[5][6]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet\u2013Biedl syndrome type 2. Bardet\u2013Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.[6]References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000125124 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031755 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). “Positional cloning of a novel gene on chromosome 16q causing Bardet\u2013Biedl syndrome (BBS2)”. Hum Mol Genet. 10 (8): 865\u201374. doi:10.1093\/hmg\/10.8.865. PMID\u00a011285252.^ a b “Entrez Gene: BBS2 Bardet-Biedl syndrome 2”.External links[edit]Further reading[edit]Kwitek-Black AE, Carmi R, Duyk GM,  et\u00a0al. (1994). “Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity”. Nat. Genet. 5 (4): 392\u20136. doi:10.1038\/ng1293-392. PMID\u00a08298649. S2CID\u00a030898539.Bonaldo MF, Lennon G, Soares MB (1997). “Normalization and subtraction: two approaches to facilitate gene discovery”. Genome Res. 6 (9): 791\u2013806. doi:10.1101\/gr.6.9.791. PMID\u00a08889548.Beales PL, Reid HA, Griffiths MH,  et\u00a0al. (2001). “Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome”. Nephrol. Dial. Transplant. 15 (12): 1977\u201385. doi:10.1093\/ndt\/15.12.1977. PMID\u00a011096143.Katsanis N, Ansley SJ, Badano JL,  et\u00a0al. (2001). “Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder”. Science. 293 (5538): 2256\u20139. Bibcode:2001Sci…293.2256K. doi:10.1126\/science.1063525. PMID\u00a011567139. S2CID\u00a041822166.Strausberg RL, Feingold EA, Grouse LH,  et\u00a0al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899\u2013903. Bibcode:2002PNAS…9916899M. doi:10.1073\/pnas.242603899. PMC\u00a0139241. PMID\u00a012477932.Badano JL, Ansley SJ, Leitch CC,  et\u00a0al. (2003). “Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2”. Am. J. Hum. Genet. 72 (3): 650\u20138. doi:10.1086\/368204. PMC\u00a01180240. PMID\u00a012567324.Beales PL, Badano JL, Ross AJ,  et\u00a0al. (2003). “Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome”. Am. J. Hum. Genet. 72 (5): 1187\u201399. doi:10.1086\/375178. PMC\u00a01180271. PMID\u00a012677556.Badano JL, Kim JC, Hoskins BE,  et\u00a0al. (2003). “Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus”. Hum. Mol. Genet. 12 (14): 1651\u20139. doi:10.1093\/hmg\/ddg188. PMID\u00a012837689.Hoskins BE, Thorn A, Scambler PJ, Beales PL (2004). “Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique”. Hum. Mutat. 22 (2): 151\u20137. doi:10.1002\/humu.10241. PMID\u00a012872256. S2CID\u00a030935841.Ota T, Suzuki Y, Nishikawa T,  et\u00a0al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40\u20135. doi:10.1038\/ng1285. PMID\u00a014702039.Gerhard DS, Wagner L, Feingold EA,  et\u00a0al. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121\u20137. doi:10.1101\/gr.2596504. PMC\u00a0528928. PMID\u00a015489334.Rual JF, Venkatesan K, Hao T,  et\u00a0al. (2005). “Towards a proteome-scale map of the human protein-protein interaction network”. Nature. 437 (7062): 1173\u20138. Bibcode:2005Natur.437.1173R. doi:10.1038\/nature04209. PMID\u00a016189514. S2CID\u00a04427026.       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