Gene

bbs2

ID
ZDB-GENE-020801-1
Name
Bardet-Biedl syndrome 2
Symbol
bbs2 Nomenclature History
Previous Names
  • fb80a05
  • wu:fb80a05 (1)
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Involved in cilium assembly and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; photoreceptor cell maintenance; and pigment granule aggregation in cell center. Predicted to be located in ciliary membrane; cytoplasm; and cytoskeleton. Predicted to be part of BBSome. Predicted to be active in several cellular components, including ciliary basal body; motile cilium; and neuron projection. Is expressed in eye; photoreceptor outer segment layer; retina; and retinal photoreceptor layer. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
10 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bbs2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 2 Alliance Bardet-Biedl syndrome 2 615981
retinitis pigmentosa 74 Alliance Retinitis pigmentosa 74 616562
Associated With bbs2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR029333 Ciliary BBSome complex subunit 2, C-terminal domain
Domain IPR029429 Ciliary BBSome complex subunit 2, middle region
Domain IPR029430 Ciliary BBSome complex subunit 2, N-terminal
Family IPR016616 Bardet-Biedl syndrome 2 protein
Homologous_superfamily IPR015943 WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily IPR036322 WD40-repeat-containing domain superfamily
Domain Details Per Protein
Protein Length Bardet-Biedl syndrome 2 protein Ciliary BBSome complex subunit 2, C-terminal domain Ciliary BBSome complex subunit 2, middle region Ciliary BBSome complex subunit 2, N-terminal WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:Q6DI45 715
UniProtKB:Q6PCA0 715
UniProtKB:Q98SP7 715
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations