BBS2

BBS2
Identifiers
Aliases	BBS2, BBS, RP74, Bardet-Biedl syndrome 2
External IDs	OMIM: 606151; MGI: 2135267; HomoloGene: 12122; GeneCards: BBS2; OMA:BBS2 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	56,582,667 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	94,825,556 bp
RNA expression pattern
	Top expressed in
	right adrenal cortex; ; tibial nerve; ; ventricular zone; ; left adrenal gland; ; caudate nucleus; ; left adrenal cortex; ; Achilles tendon; ; putamen; ; nucleus accumbens; ; right frontal lobe;
	Top expressed in
	neural layer of retina; ; spermatocyte; ; genital tubercle; ; ventricular zone; ; tail of embryo; ; pituitary gland; ; spermatid; ; olfactory epithelium; ; superior frontal gyrus; ; islet of Langerhans;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein 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; neuron projection;
Biological process	protein localization to organelle; protein localization; 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; cartilage development; adult behavior; cell projection organization; melanosome transport; artery smooth muscle contraction; positive regulation of multicellular organism growth; cerebral cortex development; protein transport; photoreceptor cell maintenance; response to leptin; hippocampus development; fat cell differentiation; striatum development; visual perception; brain morphogenesis; Golgi to plasma membrane protein transport; cilium assembly; non-motile cilium assembly; protein localization to ciliary membrane;
	Sources:Amigo / QuickGO
Orthologs
	583
	67378
	ENSG00000125124
	ENSMUSG00000031755
	Q9BXC9
	Q9CWF6
	NM_031885; NM_001377456
	NM_026116
	NP_114091; NP_001364385
	NP_080392
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

^ ^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–Biedl syndrome (BBS2)". Hum Mol Genet. 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID 11285252.
^ ^a ^b "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

External links

GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
Human BBS2 genome location and BBS2 gene details page in the UCSC Genome Browser.

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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125124 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031755 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11285252-5] 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.

[entrez-6] "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

[5]

BBS2

References

External links

Further reading