Version: 8.0.0Date: Tue Jan 28 2025
Gene
BBS10
- Species
- Homo sapiens
- Symbol
- BBS10
- Name
- Bardet-Biedl syndrome 10
- Synonyms
- Bardet-Biedl syndrome 10 protein
- BBSome complex assembly protein BBS10
- Biotype
- protein coding gene
- Automated Description
- Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in non-motile cilium assembly and photoreceptor cell maintenance. Acts upstream of or within chaperone-mediated protein complex assembly and regulation of protein-containing complex assembly. Predicted to be located in cilium. Implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 10.
- RGD Description
- This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR14667
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:76344474...76348415 - (3.94 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.