Gene
egr2a
- ID
- ZDB-GENE-030723-6
- Name
- early growth response 2a
- Symbol
- egr2a Nomenclature History
- Previous Names
-
- frb35 (1)
- krox20
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1D; Charcot-Marie-Tooth disease type 3; Charcot-Marie-Tooth disease type 4E; and motor peripheral neuropathy. Is expressed in hindbrain and hindbrain neural keel. Orthologous to human EGR2 (early growth response 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 10 publications
- 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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 1D | Alliance | Charcot-Marie-Tooth disease, type 1D | 607678 |
| Charcot-Marie-Tooth disease type 3 | Alliance | Dejerine-Sottas disease | 145900 |
| Charcot-Marie-Tooth disease type 4E | Alliance | Hypomyelinating neuropathy, congenital, 1 | 605253 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Early growth response, N-terminal | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|
|
UniProtKB:Q8QFX2
|
248 | |||
|
UniProtKB:A0A8M9PE40
|
391 | |||
|
UniProtKB:E7F266
|
393 |
Interactions and Pathways
No data available
Plasmids
No data available