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 several processes, including Kupffer's vesicle development; cilium assembly; and establishment of pigment granule localization. Predicted to localize to several cellular components, including BBSome; ciliary basal body; and motile cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Is expressed in retina and retinal photoreceptor layer. Orthologous to human BBS2 (Bardet-Biedl syndrome 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73041 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Bardet-Biedl syndrome | bbs2lri82/lri82 | standard conditions | Song et al., 2020 |
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:Q98SP7
|
715 |
Interactions and Pathways
No data available
Plasmids
No data available