BBS2

Name

Bardet-Biedl syndrome 2

Type

protein-coding

Position

56,465,640–56,582,667 (−)

Aliases

BBS, RP74

Ensembl

ENSG00000125124

RefSeq RNA

NM_001377456.1, NM_031885.5, NR_165293.1, NR_165294.1, NR_165295.1

RefSeq protein

NP_001364385.1, NP_114091.4, XP_047290368.1, XP_054169545.1

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

Wikidata facts

Instance of

gene

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