BBS12

Protein-coding gene in the species Homo sapiens
BBS12
Identifiers
AliasesBBS12, C4orf24, Bardet-Biedl syndrome 12
External IDsOMIM: 610683; MGI: 2686651; HomoloGene: 17634; GeneCards: BBS12; OMA:BBS12 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for BBS12
Genomic location for BBS12
Band4q27Start122,732,702 bp[1]
End122,744,942 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for BBS12
Genomic location for BBS12
Band3|3 BStart37,366,703 bp[2]
End37,375,602 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 3: 37.37 – 37.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000181004 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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.


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