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early growth response protein 2; EGR-2; protein Krox-20; AT591 (EGR2, KROX20)
Function:
- sequence-specific DNA-binding transcription factor
- binds to two specific DNA sites located in the promoter region of HOXA4 gene
- interacts with HCFC1
Structure:
- belongs to the EGR C2H2-type Zn+2-finger protein family
- contains 3 C2H2-type Zn+2 fingers
Compartment: nucleus
Alternative splicing: named isoforms=2
Pathology:
- defects in EGR2 are a cause of:
a) congenital hypomyelination neuropathy
b) Charcot-Marie-Tooth disease type 1D
c) Dejerine-Sottas syndrome
Related
Krupple Box-20 gene (KROX-20) or early growth response [egr]-2 gene
General
C2H2 type zinc finger protein
early growth response protein family (EGR)
Properties
SIZE: entity length = 476 aa
MW = 50 kD
COMPARTMENT: cell nucleus
MOTIF: HCFC1-binding-motif (HBM) {162-165}
alanine-rich region {300-309}
MOTIF: alanine residue (SEVERAL)
Zn finger C2H2-type
SITE: 340-364
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 370-392
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 398-420
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
MORBIDMAP 129010
UniProt P11161
Pfam PF00096
Entrez Gene 1959
Kegg hsa:1959
References
- Herschman HR
Extracellular signals, transcriptional responses and cellular
specificity
TIBS 14:455 1989
PMID: 2696174
- Gashler A and Sukhatme VP
Early growth response protein 1 (EGR-1): prototype of a zinc-
finger family of transcription factors.
Prog Nuclei Acid Res Mol Biol 1995, 50:191
PMID: 7754034
- Entrez Gene :accession 1959
- Inherited peripheral neuropathies mutation db
http://www.molgen.ua.ac.be/CMTmutations/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=EGR2
- UniProt :accession P11161