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.^[5]^[6]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125124 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031755 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Hum Mol Genet. 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID 11285252.
^ "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

External links

GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

References

External links

Further reading