Gene
b9d1
- ID
- ZDB-GENE-050522-467
- Name
- B9 protein domain 1
- Symbol
- b9d1 Nomenclature History
- Previous Names
-
- im:6905750
- im:7069491
- wu:fc09g07
- zgc:110733
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have hedgehog receptor activity. Predicted to be involved in cilium assembly and smoothened signaling pathway. Predicted to localize to MKS complex; centrosome; and ciliary basal body. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6905750 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 27 | Alliance | Joubert syndrome 27 | 617120 |
| ?Meckel syndrome 9 | 614209 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR010796 | B9-type C2 domain |
Domain Details Per Protein
| Protein | Length | B9-type C2 domain |
|---|---|---|
|
UniProtKB:Q503B7
|
201 |
Interactions and Pathways
No data available
Plasmids
No data available