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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Is expressed in hindbrain and hindbrain neural keel. 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. Orthologous to human EGR2 (early growth response 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 6 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:Q6PE44
|
372 | |||
|
UniProtKB:E7F266
|
393 | |||
|
UniProtKB:Q8QFX2
|
248 |
Interactions and Pathways
No data available
Plasmids
No data available