BBS4

Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.^[5][6][7]

AliasesBBS4, Bardet-Biedl syndrome 4

External IDsOMIM: 600374; MGI: 2143311; HomoloGene: 13197; GeneCards: BBS4; OMA:BBS4 - orthologs

Chr.Chromosome 15 (human)^[1]

End72,738,475 bp^[1]

Quick facts Identifiers, Aliases ...

BBS4
Identifiers
Aliases	BBS4, Bardet-Biedl syndrome 4
External IDs	OMIM: 600374; MGI: 2143311; HomoloGene: 13197; GeneCards: BBS4; OMA:BBS4 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q24.1 Start 72,686,179 bp[1] End 72,738,475 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 B|9 32.01 cM Start 59,229,273 bp[2] End 59,260,791 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube oocyte secondary oocyte anterior pituitary right lobe of thyroid gland ventricular zone left ovary left lobe of thyroid gland right testis left testis Top expressed in primary oocyte spermatocyte zygote secondary oocyte spermatid olfactory epithelium neural layer of retina dorsomedial hypothalamic nucleus facial motor nucleus epithelium of lens More reference expression data BioGPS 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 Species Human Mouse Entrez 585 102774 Ensembl ENSG00000140463 ENSMUSG00000025235 UniProt Q96RK4 Q8C1Z7 RefSeq (mRNA) NM_001252678 NM_033028 NM_001320665 NM_175325 NM_001359558 RefSeq (protein) NP_001239607 NP_001307594 NP_149017 NP_780534 NP_001346487 Location (UCSC) Chr 15: 72.69 – 72.74 Mb Chr 9: 59.23 – 59.26 Mb PubMed search [3] [4]
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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 intellectual disability.^[7]