Gene
fgd4a
- ID
- ZDB-GENE-050420-347
- Name
- FYVE, RhoGEF and PH domain containing 4a
- Symbol
- fgd4a Nomenclature History
- Previous Names
-
- fgd4
- si:ch211-194i18.1
- si:dkey-57m7.1
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity and metal ion binding activity. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4H. Is expressed in basal plate midbrain region; diencephalon; and tegmentum. Orthologous to human FGD4 (FYVE, RhoGEF and PH domain containing 4).
- Genome Resources
- Note
-
This gene has an almost identical sequence to si:dkey-57m7.1. The EST CK683166 matches both.
- Comparative Information
- All Expression Data
- 4 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145382 (4 images)
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 |
---|---|---|---|
Charcot-Marie-Tooth disease type 4H | Alliance | Charcot-Marie-Tooth disease, type 4H | 609311 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000219 | Dbl homology (DH) domain |
Domain | IPR000306 | FYVE zinc finger |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR017455 | Zinc finger, FYVE-related |
Domain | IPR035941 | FGD1-4, C-terminal PH domain |
Domain | IPR037742 | FGD4, N-terminal PH domain |
Family | IPR051092 | FYVE, RhoGEF and PH domain-containing |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
Domain Details Per Protein
Protein | Length | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | FGD1-4, C-terminal PH domain | FGD4, N-terminal PH domain | FYVE, RhoGEF and PH domain-containing | FYVE zinc finger | PH-like domain superfamily | Pleckstrin homology domain | Zinc finger, FYVE-related | Zinc finger, RING/FYVE/PHD-type |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:D5FS19
|
728 |
Interactions and Pathways
No data available
Plasmids
No data available