BBS12

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

BBS12
Identifiers
Aliases	BBS12, C4orf24, Bardet-Biedl syndrome 12
External IDs	OMIM: 610683 MGI: 2686651 HomoloGene: 17634 GeneCards: BBS12
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 37,312,554 bp[2] End 37,321,453 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • ATP binding • protein binding involved in protein folding • 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: 37.31 – 37.32 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. 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. 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 US National Library of Medicine Medical Subject Headings (MeSH)
• Human BBS12 genome location and BBS12 gene details page in the UCSC Genome Browser.