BBS2

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)
End	56,582,667 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	94,825,556 bp
RNA expression pattern
	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
	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
	583
	67378
	ENSG00000125124
	ENSMUSG00000031755
	Q9BXC9
	Q9CWF6
	NM_031885; NM_001377456
	NM_026116
	NP_114091; NP_001364385
	NP_080392
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.

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 mental retardation.