BBS7

BBS7
Identifiers
Aliases	BBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDs	OMIM: 607590; MGI: 1918742; HomoloGene: 12395; GeneCards: BBS7; OMA:BBS7 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	121,870,487 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	36,667,626 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; Achilles tendon; ; lateral nuclear group of thalamus; ; Brodmann area 23; ; primary visual cortex; ; postcentral gyrus; ; prefrontal cortex; ; testicle; ; superior frontal gyrus; ; secondary oocyte;
	Top expressed in
	neural layer of retina; ; ovarian follicle; ; spermatid; ; spermatocyte; ; secondary follicle of ovary; ; seminiferous tubule; ; retinal pigment epithelium; ; genital tubercle; ; olfactory epithelium; ; otolith organ;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; ciliary basal body; cytosol; centrosome; cell projection; BBSome; membrane; plasma membrane; photoreceptor outer segment; cilium; microtubule organizing center; ciliary membrane; axoneme; cytoskeleton; nucleus; neuron projection;
Biological process	eye development; protein localization; pigment granule aggregation in cell center; response to stimulus; regulation of transcription by RNA polymerase II; intracellular transport; limb development; heart looping; heart development; brain development; determination of left/right symmetry; cell projection organization; melanosome transport; protein transport; smoothened signaling pathway; fat cell differentiation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; visual perception; digestive tract morphogenesis; cilium assembly; non-motile cilium assembly; primary palate development;
	Sources:Amigo / QuickGO
Orthologs
	55212
	71492
	ENSG00000138686
	ENSMUSG00000037325
	Q8IWZ6
	Q8K2G4
	NM_018190; NM_176824
	NM_027810
	NP_060660; NP_789794
	NP_082086
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.

Mutations in this gene are associated with the Bardet–Biedl syndrome.