BBS2

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.^[5][6]

AliasesBBS2, BBS, RP74, Bardet-Biedl syndrome 2

External IDsOMIM: 606151; MGI: 2135267; HomoloGene: 12122; GeneCards: BBS2; OMA:BBS2 - orthologs

Chr.Chromosome 16 (human)^[1]

End56,582,667 bp^[1]

Quick facts Identifiers, Aliases ...

BBS2
Identifiers
Aliases	BBS2, BBS, RP74, Bardet-Biedl syndrome 2
External IDs	OMIM: 606151; MGI: 2135267; HomoloGene: 12122; GeneCards: BBS2; OMA:BBS2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q13 Start 56,465,640 bp[1] End 56,582,667 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C5 Start 94,794,582 bp[2] End 94,825,556 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex tibial nerve ventricular zone left adrenal gland caudate nucleus left adrenal cortex Achilles tendon putamen nucleus accumbens right frontal lobe Top expressed in neural layer of retina spermatocyte genital tubercle ventricular zone tail of embryo pituitary gland spermatid olfactory epithelium superior frontal gyrus islet of Langerhans More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm ciliary basal body cytosol cell projection BBSome membrane plasma membrane cilium microtubule organizing center ciliary membrane motile cilium cytoskeleton stereocilium microvillus neuron projection Biological process protein localization to organelle protein localization regulation of cilium beat frequency involved in ciliary motility negative regulation of appetite by leptin-mediated signaling pathway response to stimulus leptin-mediated signaling pathway negative regulation of multicellular organism growth vasodilation negative regulation of gene expression sperm axoneme assembly cartilage development adult behavior cell projection organization melanosome transport artery smooth muscle contraction positive regulation of multicellular organism growth cerebral cortex development protein transport photoreceptor cell maintenance response to leptin hippocampus development fat cell differentiation striatum development visual perception brain morphogenesis Golgi to plasma membrane protein transport cilium assembly non-motile cilium assembly protein localization to ciliary membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 583 67378 Ensembl ENSG00000125124 ENSMUSG00000031755 UniProt Q9BXC9 Q9CWF6 RefSeq (mRNA) NM_031885 NM_001377456 NM_026116 RefSeq (protein) NP_114091 NP_001364385 NP_080392 Location (UCSC) Chr 16: 56.47 – 56.58 Mb Chr 8: 94.79 – 94.83 Mb PubMed search [3] [4]
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This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and intellectual disability.^[6]