BBS7 |
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Identifiers |
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Aliases | BBS7, BBS2L1, Bardet-Biedl syndrome 7 |
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External IDs | OMIM: 607590; MGI: 1918742; HomoloGene: 12395; GeneCards: BBS7; OMA:BBS7 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 4 (human)[1] |
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| Band | 4q27 | Start | 121,824,329 bp[1] |
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End | 121,870,487 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 3 (mouse)[2] |
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| Band | 3|3 B | Start | 36,627,291 bp[2] |
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End | 36,667,626 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | | 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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 4: 121.82 – 121.87 Mb | Chr 3: 36.63 – 36.67 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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