BBS2
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.{{cite journal | vauthors = 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 | title = Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2) | journal = Hum Mol Genet | volume = 10 | issue = 8 | pages = 865–74 |date=Apr 2001 | pmid = 11285252 | doi =10.1093/hmg/10.8.865 | doi-access = free }}{{cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583}}
This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.
References
{{reflist}}
External links
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
- {{UCSC gene info|BBS2}}
Further reading
{{refbegin | 2}}
- {{cite journal | author=Kwitek-Black AE |title=Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 392–6 |year= 1994 |pmid= 8298649 |doi= 10.1038/ng1293-392 |name-list-style=vanc| author2=Carmi R | author3=Duyk GM | display-authors=3 | last4=Buetow | first4=Kenneth H. | last5=Elbedour | first5=Khalil | last6=Parvari | first6=Ruti | last7=Yandava | first7=Chandra Naidu | last8=Stone | first8=Edwin M. | last9=Sheffield | first9=Val C. |s2cid=30898539 }}
- {{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 |doi-access=free }}
- {{cite journal | author=Beales PL |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977–85 |year= 2001 |pmid= 11096143 |doi=10.1093/ndt/15.12.1977 |name-list-style=vanc| author2=Reid HA | author3=Griffiths MH | display-authors=3 | last4=Maher | first4=ER | last5=Flinter | first5=FA | last6=Woolf | first6=AS | doi-access=free }}
- {{cite journal | author=Katsanis N |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder |journal=Science |volume=293 |issue= 5538 |pages= 2256–9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525 |name-list-style=vanc| author2=Ansley SJ | author3=Badano JL | display-authors=3 | last4=Eichers | first4=ER | last5=Lewis | first5=RA | last6=Hoskins | first6=BE | last7=Scambler | first7=PJ | last8=Davidson | first8=WS | last9=Beales | first9=PL |bibcode=2001Sci...293.2256K |s2cid=41822166 }}
- {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal | author=Badano JL |title=Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 |journal=Am. J. Hum. Genet. |volume=72 |issue= 3 |pages= 650–8 |year= 2003 |pmid= 12567324 |doi=10.1086/368204 | pmc=1180240 |name-list-style=vanc| author2=Ansley SJ | author3=Leitch CC | display-authors=3 | last4=Lewis | first4=Richard Alan | last5=Lupski | first5=James R. | last6=Katsanis | first6=Nicholas }}
- {{cite journal | author=Beales PL |title=Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187–99 |year= 2003 |pmid= 12677556 |doi=10.1086/375178 | pmc=1180271 |name-list-style=vanc| author2=Badano JL | author3=Ross AJ | display-authors=3 | last4=Ansley | first4=Stephen J. | last5=Hoskins | first5=Bethan E. | last6=Kirsten | first6=Brigitta | last7=Mein | first7=Charles A. | last8=Froguel | first8=Philippe | last9=Scambler | first9=Peter J. }}
- {{cite journal | author=Badano JL |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=10.1093/hmg/ddg188 |name-list-style=vanc| author2=Kim JC | author3=Hoskins BE | display-authors=3 | last4=Lewis | first4=RA | last5=Ansley | first5=SJ | last6=Cutler | first6=DJ | last7=Castellan | first7=C | last8=Beales | first8=PL | last9=Leroux | first9=MR | doi-access=free }}
- {{cite journal | vauthors=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151–7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241 |s2cid=30935841 |doi-access=free }}
- {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
- {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-style=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
- {{cite journal | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |name-list-style=vanc| author2=Venkatesan K | author3=Hao T | display-authors=3 | last4=Hirozane-Kishikawa | first4=Tomoko | last5=Dricot | first5=Amélie | last6=Li | first6=Ning | last7=Berriz | first7=Gabriel F. | last8=Gibbons | first8=Francis D. | last9=Dreze | first9=Matija |bibcode=2005Natur.437.1173R |s2cid=4427026 }}
{{refend}}
{{Ciliary proteins}}
{{gene-16-stub}}