BBS2
Sign in to saveAlso known as BBS, RP74, Bardet-Biedl syndrome 2
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Gene data
BBS2- Name
- Bardet-Biedl syndrome 2
- Type
- protein-coding
- Aliases
- BBS, RP74
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, 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 forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014].
via MyGene.info
Gene · Ensembl
Bardet-Biedl syndrome 2
- Symbol
- BBS2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:56,465,640-56,582,667
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 12122
- exact match
- identifiers.org/ncbigene/583
- genomic end
- 56582667
- genomic start
- 56465640
- cytogenetic location
- 16q13
Sources (4)
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- References
- External links
- Further reading
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and intellectual disability.