Gene
def6a
- ID
- ZDB-GENE-040426-1246
- Name
- DEF6 guanine nucleotide exchange factor a
- Symbol
- def6a Nomenclature History
- Previous Names
-
- zgc:63721 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within cell migration involved in gastrulation and convergent extension involved in gastrulation. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including female organism; fin; lateral line; post-vent region; and somite border. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human DEF6 (DEF6 guanine nucleotide exchange factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Immunodeficiency 87 and autoimmunity | 619573 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | EF-hand domain pair | PH-like domain superfamily | Pleckstrin homology domain |
|---|---|---|---|---|
|
UniProtKB:Q7SYB5
|
612 | |||
|
UniProtKB:A0A8M6Z7K3
|
631 |
Interactions and Pathways
No data available
Plasmids