BBS2

From Wikipedia, the free encyclopedia

Bardet-Biedl syndrome 2

Identifiers

BBS2; BBS; MGC20703

External IDs

OMIM: 606151 MGI: 2135267 HomoloGene: 12122

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• cellular_component
Biological Process:	• visual perception • response to stimulus

Orthologs

Human

Mouse

Refseq

NM_031885 (mRNA)
NP_114091 (protein)

NM_026116 (mRNA)
NP_080392 (protein)

Location

Chr 16: 55.08 - 55.11 Mb

Chr 8: 96.96 - 96.99 Mb

Pubmed search

[1]

[2]

Bardet-Biedl syndrome 2, also known as BBS2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: BBS2 Bardet-Biedl syndrome 2.

[edit] Further reading

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.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. 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. PMID 11096143.
Nishimura DY, Searby CC, Carmi R, et al. (2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).". Hum. Mol. Genet. 10 (8): 865-74. PMID 11285252.
Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.". Science 293 (5538): 2256-9. doi:10.1126/science.1063525. PMID 11567139.
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. doi:10.1073/pnas.242603899. 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. 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. 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. 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.
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. 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. doi:10.1038/nature04209. PMID 16189514.