Aliases for EGR2 Gene
External Ids for EGR2 Gene
Previous HGNC Symbols for EGR2 Gene
Previous GeneCards Identifiers for EGR2 Gene
The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for EGR2 Gene
EGR2 (Early Growth Response 2) is a Protein Coding gene. Diseases associated with EGR2 include Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive and Charcot-Marie-Tooth Disease, Demyelinating, Type 1D. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and IL4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and ligase activity. An important paralog of this gene is EGR3.
UniProtKB/Swiss-Prot for EGR2 Gene
Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.
E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.