BBS4

BBS4
Identifiers
Aliases	BBS4, Bardet-Biedl syndrome 4
External IDs	OMIM: 600374 MGI: 2143311 HomoloGene: 13197 GeneCards: BBS4
Gene location (Human)
Chr.	Chromosome 15 (human)
End	72,738,475 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	59,260,791 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; oocyte; ; secondary oocyte; ; anterior pituitary; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; canal of the cervix; ; bronchial epithelial cell; ; tibial nerve; ; body of pancreas;
	Top expressed in
	spermatocyte; ; secondary oocyte; ; spermatid; ; olfactory epithelium; ; dorsomedial hypothalamic nucleus; ; facial motor nucleus; ; substantia nigra; ; nucleus accumbens; ; supraoptic nucleus; ; ventral tegmental area;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	microtubule motor activity; dynactin binding; alpha-tubulin binding; protein binding; beta-tubulin binding;
Cellular component	cytoplasm; ciliary basal body; centrosome; cell projection; BBSome; pericentriolar material; membrane; photoreceptor inner segment; plasma membrane; photoreceptor outer segment; cilium; centriolar satellite; ciliary transition zone; photoreceptor connecting cilium; microtubule organizing center; ciliary membrane; centriole; motile cilium; cytoskeleton; nucleus; cytosol; non-motile cilium;
Biological process	protein localization to organelle; fat pad development; cilium assembly; regulation of cilium beat frequency involved in ciliary motility; protein localization; regulation of cytokinesis; negative regulation of actin filament polymerization; negative regulation of appetite by leptin-mediated signaling pathway; response to stimulus; leptin-mediated signaling pathway; dendrite development; mitotic cytokinesis; sensory processing; intracellular transport; neuron migration; photoreceptor cell outer segment organization; negative regulation of gene expression; ventricular system development; regulation of stress fiber assembly; protein localization to photoreceptor outer segment; heart looping; sensory perception of smell; regulation of lipid metabolic process; face development; neural tube closure; retina homeostasis; adult behavior; negative regulation of GTPase activity; cell projection organization; protein localization to cilium; melanosome transport; retinal rod cell development; spermatid development; positive regulation of multicellular organism growth; cerebral cortex development; protein transport; social behavior; protein localization to centrosome; positive regulation of cilium assembly; photoreceptor cell maintenance; regulation of non-motile cilium assembly; response to leptin; negative regulation of systemic arterial blood pressure; hippocampus development; fat cell differentiation; microtubule cytoskeleton organization; maintenance of protein location in nucleus; striatum development; microtubule anchoring at centrosome; visual perception; brain morphogenesis; non-motile cilium assembly; centrosome cycle;
	Sources:Amigo / QuickGO
Orthologs
	585
	102774
	ENSG00000140463
	ENSMUSG00000025235
	Q96RK4
	Q8C1Z7
	NM_001252678; NM_033028; NM_001320665
	NM_175325; NM_001359558
	NP_001239607; NP_001307594; NP_149017
	NP_780534; NP_001346487
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.

This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.

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