BBS12

BBS12
Identifiers
Aliases	BBS12, C4orf24, Bardet-Biedl syndrome 12
External IDs	OMIM: 610683; MGI: 2686651; HomoloGene: 17634; GeneCards: BBS12; OMA:BBS12 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q27 Start 122,732,702 bp[1] End 122,744,942 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 B Start 37,366,703 bp[2] End 37,375,602 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad sperm bronchial epithelial cell testicle germinal epithelium secondary oocyte islet of Langerhans cartilage tissue jejunal mucosa caput epididymis Top expressed in neural layer of retina hand medullary collecting duct ventricular zone tail of embryo renal corpuscle fossa embryo condyle embryo More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cell projection cilium chaperonin-containing T-complex Biological process photoreceptor cell maintenance negative regulation of fat cell differentiation chaperone-mediated protein complex assembly eating behavior intraciliary transport 'de novo' protein folding chaperone-mediated protein folding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 166379 241950 Ensembl ENSG00000181004 ENSMUSG00000051444 UniProt Q6ZW61 Q5SUD9 RefSeq (mRNA) NM_001178007 NM_152618 NM_001008502 NM_001255992 RefSeq (protein) NP_001171478 NP_689831 NP_001008502 NP_001242921 Location (UCSC) Chr 4: 122.73 – 122.74 Mb Chr 3: 37.37 – 37.38 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.^[5]

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000181004 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000051444 – 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.
5. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H (January 2007). "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome". Am. J. Hum. Genet. 80 (1): 1–11. doi:10.1086/510256. PMC 1785304. PMID 17160889.

Further reading

• Marion V, Stoetzel C, Schlicht D, et al. (2009). "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation". Proc. Natl. Acad. Sci. U.S.A. 106 (6): 1820–5. Bibcode:2009PNAS..106.1820M. doi:10.1073/pnas.0812518106. PMC 2635307. PMID 19190184.
• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome
• Bbs12 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human BBS12 genome location and BBS12 gene details page in the UCSC Genome Browser.