BBS7

BBS7
Identifiers
Aliases	BBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDs	OMIM: 607590; MGI: 1918742; HomoloGene: 12395; GeneCards: BBS7; OMA:BBS7 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q27 Start 121,824,329 bp End 121,870,487 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 B Start 36,627,291 bp End 36,667,626 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Achilles tendon lateral nuclear group of thalamus Brodmann area 23 primary visual cortex postcentral gyrus prefrontal cortex testicle superior frontal gyrus secondary oocyte Top expressed in neural layer of retina ovarian follicle spermatid spermatocyte secondary follicle of ovary seminiferous tubule retinal pigment epithelium genital tubercle olfactory epithelium otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm ciliary basal body cytosol centrosome cell projection BBSome membrane plasma membrane photoreceptor outer segment cilium microtubule organizing center ciliary membrane axoneme cytoskeleton nucleus neuron projection Biological process eye development protein localization pigment granule aggregation in cell center response to stimulus regulation of transcription by RNA polymerase II intracellular transport limb development heart looping heart development brain development determination of left/right symmetry cell projection organization melanosome transport protein transport smoothened signaling pathway fat cell differentiation positive regulation of proteasomal ubiquitin-dependent protein catabolic process visual perception digestive tract morphogenesis cilium assembly non-motile cilium assembly primary palate development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55212 71492 Ensembl ENSG00000138686 ENSMUSG00000037325 UniProt Q8IWZ6 Q8K2G4 RefSeq (mRNA) NM_018190 NM_176824 NM_027810 RefSeq (protein) NP_060660 NP_789794 NP_082086 Location (UCSC) Chr 4: 121.82 – 121.87 Mb Chr 3: 36.63 – 36.67 Mb PubMed search
Wikidata
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Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.

Mutations in this gene are associated with the Bardet-Biedl syndrome.

Further reading

• Oeffner F, Moch C, Neundorf A, et al. (2008). "Novel interaction partners of Bardet-Biedl syndrome proteins". Cell Motil. Cytoskeleton. 65 (2): 143–55. doi:10.1002/cm.20250. PMID 18000879.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
• Nachury MV, Loktev AV, Zhang Q, et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis". Cell. 129 (6): 1201–13. doi:10.1016/j.cell.2007.03.053. PMID 17574030.
• Chung WK, Patki A, Matsuoka N, et al. (2009). "Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations". Hum. Hered. 67 (3): 193–205. doi:10.1159/000181158. PMC 2715950. PMID 19077438.
• 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.
• 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.
• Yang Z, Yang Y, Zhao P, et al. (2008). "A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family". Mol. Vis. 14: 2304–8. PMC 2603185. PMID 19093007.
• 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. (2002). "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.
• Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population". Hum. Mutat. 30 (7): E737–46. doi:10.1002/humu.21040. PMID 19402160.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
• Bbs7 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)