BBS2

BBS2
Identifiers
Aliases	BBS2, BBS, RP74, Bardet-Biedl syndrome 2
External IDs	MGI: 2135267 HomoloGene: 12122 GeneCards: BBS2
Gene ontology Molecular function • protein binding • RNA polymerase II repressing transcription factor binding Cellular component • cytoplasm • ciliary basal body • cytosol • cell projection • BBSome • membrane • plasma membrane • cilium • microtubule organizing center • ciliary membrane • motile cilium • cytoskeleton • stereocilium • microvillus Biological process • protein localization to organelle • protein localization • cilium morphogenesis • regulation of cilium beat frequency involved in ciliary motility • negative regulation of appetite by leptin-mediated signaling pathway • response to stimulus • leptin-mediated signaling pathway • negative regulation of multicellular organism growth • vasodilation • negative regulation of gene expression • sperm axoneme assembly • protein localization to ciliary membrane • cartilage development • adult behavior • cell projection organization • melanosome transport • artery smooth muscle contraction • positive regulation of multicellular organism growth • cerebral cortex development • transport • protein transport • cilium assembly • photoreceptor cell maintenance • response to leptin • hippocampus development • nonmotile primary cilium assembly • fat cell differentiation • striatum development • visual perception • brain morphogenesis • Golgi to plasma membrane protein transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	583	67378
Ensembl	ENSG00000125124	ENSMUSG00000031755
UniProt	Q9BXC9	Q9CWF6
RefSeq (mRNA)	NM_031885	NM_026116
RefSeq (protein)	NP_114091.3	NP_080392.1
Location (UCSC)	Chr 16: 56.47 – 56.52 Mb	Chr 8: 94.07 – 94.1 Mb
PubMed search	[1]	[2]
Wikidata

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Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.^[3][4]

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.^[4]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome

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. 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. 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. 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.
• 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. doi:10.1038/nature04209. PMID 16189514.