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 enable hedgehog receptor activity. Predicted to be involved in cilium assembly and smoothened signaling pathway. Predicted to act upstream of or within cell projection organization. Predicted to be located in centrosome; ciliary basal body; and ciliary transition zone. Predicted to be part of MKS complex. 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