Gene
egr2b
- ID
- ZDB-GENE-980526-283
- Name
- early growth response 2b
- Symbol
- egr2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Is predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in regulation of transcription by RNA polymerase II. Acts upstream of or within embryonic organ development and nervous system development. Predicted to be located in nucleus. Is expressed in several structures, including nervous system; neural crest; neural keel; neural plate; and neural rod. 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
- 545 figures from 378 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb427 (15 images)
Wild Type Expression Summary
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:E9QC39
|
232 | |||
|
UniProtKB:Q66HY5
|
412 | |||
|
UniProtKB:Q05159
|
412 |
Interactions and Pathways
No data available
Plasmids