BBS2

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.

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) Band 16q13 Start 56,465,640 bp End 56,582,667 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 C5 Start 94,794,582 bp End 94,825,556 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 583 67378 Ensembl ENSG00000125124 ENSMUSG00000031755 UniProt Q9BXC9 Q9CWF6 RefSeq (mRNA) NM_031885 NM_001377456 NM_026116 RefSeq (protein) NP_114091 NP_001364385 NP_080392 Location (UCSC) Chr 16: 56.47 – 56.58 Mb Chr 8: 94.79 – 94.83 Mb PubMed search
Wikidata
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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.

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.

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. 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.