BBS12

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

AliasesBBS12, C4orf24, Bardet-Biedl syndrome 12

External IDsOMIM: 610683; MGI: 2686651; GeneCards: BBS12

Chr.Chromosome 4 (human)^[1]

End122,744,942 bp^[1]

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BBS12
Identifiers
Aliases	BBS12, C4orf24, Bardet-Biedl syndrome 12
External IDs	OMIM: 610683; MGI: 2686651; 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 37,366,703 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 Databases NCBI: entry; OMA: entry 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
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Mutations in this gene are associated with the Bardet–Biedl syndrome.^[5]