Gene
diaph3
- ID
- ZDB-GENE-040801-144
- Name
- diaphanous-related formin 3
- Symbol
- diaph3 Nomenclature History
- Previous Names
-
- zgc:100947 (1)
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have Rho GTPase binding activity and actin binding activity. Predicted to be involved in actin cytoskeleton organization. Human ortholog(s) of this gene implicated in autosomal dominant auditory neuropathy 1. Orthologous to human DIAPH3 (diaphanous related formin 3).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant auditory neuropathy 1 | Alliance | Auditory neuropathy, autosomal dominant 1 | 609129 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR010473 | Formin, GTPase-binding domain |
| Domain | IPR014768 | Rho GTPase-binding/formin homology 3 (GBD/FH3) domain |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR044933 | Diaphanous, GTPase-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | Diaphanous, GTPase-binding domain superfamily | Formin, GTPase-binding domain | Rho GTPase-binding/formin homology 3 (GBD/FH3) domain |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6DBX8
|
267 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
diaph3-202
(1)
|
Havana | 4345 nt | |
| mRNA |
diaph3-203
(1)
|
Havana | 750 nt |
Interactions and Pathways
No data available
Plasmids
No data available