BBS7

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.^[5]

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)[1] Band 4q27 Start 121,824,329 bp[1] End 121,870,487 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 B Start 36,627,291 bp[2] End 36,667,626 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 55212 71492 Ensembl ENSG00000138686 ENSMUSG00000037325 UniProt Q8IWZ6 Q8K2G4 RefSeq (mRNA) NM_018190 NM_176824 NM_027810 RefSeq (protein) NP_060660 NP_789794 NP_082086 Location (UCSC) Chr 4: 121.82 – 121.87 Mb Chr 3: 36.63 – 36.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[5]