From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Bardet–Biedl syndrome 2 protein is a
protein that in humans is encoded by the BBS2
gene .
[5]
[6]
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.
[6]
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GRCh38: Ensembl release 89: ENSG00000125124 –
Ensembl , May 2017
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GRCm38: Ensembl release 89: ENSMUSG00000031755 –
Ensembl , May 2017
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"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–Biedl syndrome (BBS2)" . Hum Mol Genet . 10 (8): 865–74.
doi :
10.1093/hmg/10.8.865 .
PMID
11285252 .
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"Entrez Gene: BBS2 Bardet-Biedl syndrome 2" .
Kwitek-Black AE, Carmi R, Duyk GM, et al. (1994). "Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity". Nat. Genet . 5 (4): 392–6.
doi :
10.1038/ng1293-392 .
PMID
8298649 .
S2CID
30898539 .
Bonaldo MF, Lennon G, Soares MB (1997).
"Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806.
doi :
10.1101/gr.6.9.791 .
PMID
8889548 .
Beales PL, Reid HA, Griffiths MH, et al. (2001).
"Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome" . Nephrol. Dial. Transplant . 15 (12): 1977–85.
doi :
10.1093/ndt/15.12.1977 .
PMID
11096143 .
Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science . 293 (5538): 2256–9.
Bibcode :
2001Sci...293.2256K .
doi :
10.1126/science.1063525 .
PMID
11567139 .
S2CID
41822166 .
Strausberg RL, Feingold EA, Grouse LH, et al. (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): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Badano JL, Ansley SJ, Leitch CC, et al. (2003).
"Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2" . Am. J. Hum. Genet . 72 (3): 650–8.
doi :
10.1086/368204 .
PMC
1180240 .
PMID
12567324 .
Beales PL, Badano JL, Ross AJ, et al. (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): 1187–99.
doi :
10.1086/375178 .
PMC
1180271 .
PMID
12677556 .
Badano JL, Kim JC, Hoskins BE, et al. (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): 1651–9.
doi :
10.1093/hmg/ddg188 .
PMID
12837689 .
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): 151–7.
doi :
10.1002/humu.10241 .
PMID
12872256 .
S2CID
30935841 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173–8.
Bibcode :
2005Natur.437.1173R .
doi :
10.1038/nature04209 .
PMID
16189514 .
S2CID
4427026 .