Gene
bbs12
- ID
- ZDB-GENE-070626-3
- Name
- Bardet-Biedl syndrome 12
- Symbol
- bbs12 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Involved in convergent extension involved in gastrulation. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Zaghloul et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 12 | Alliance | Bardet-Biedl syndrome 12 | 615989 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR002423 | Chaperonin Cpn60/GroEL/TCP-1 family |
| Family | IPR042984 | Bardet-Biedl syndrome 12 protein |
| Homologous_superfamily | IPR027409 | GroEL-like apical domain superfamily |
| Homologous_superfamily | IPR027410 | TCP-1-like chaperonin intermediate domain superfamily |
| Homologous_superfamily | IPR027413 | GroEL-like equatorial domain superfamily |
Domain Details Per Protein
| Protein | Length | Bardet-Biedl syndrome 12 protein | Chaperonin Cpn60/GroEL/TCP-1 family | GroEL-like apical domain superfamily | GroEL-like equatorial domain superfamily | TCP-1-like chaperonin intermediate domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QKQ4
|
762 | |||||
|
UniProtKB:A0A2R8RT44
|
763 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available