EGR2

Also known as AT591, CMT1D, CMT4E, KROX20, early growth response 2, CHN1

Early growth response protein 2 (EGR2), also known as Krox20, is a transcription factor encoded by the EGR2 gene in humans. It is highly expressed in migrating neural crest cells and later in neural crest-derived cells of the cranial ganglia. Expression of EGR2 is restricted to early hindbrain development, and the gene is evolutionarily conserved among vertebrates, including humans, mice, chicks, and zebrafish. The conservation of its amino acid sequence and embryonic expression pattern underscores its essential role in hindbrain segmentation and neural differentiation.

Gene data

EGR2

Name: early growth response 2
Type: protein-coding
Position: 62,811,996–62,819,167 (−)
Aliases: AT591, CMT1D, CMT4E, KROX20
Ensembl: ENSG00000122877
RefSeq RNA: NM_000399.5, NM_001136177.3, NM_001136178.2, NM_001136179.3, NM_001321037.2
RefSeq protein: NP_000390.2, NP_001129649.1, NP_001129650.1, NP_001129651.1, NP_001307966.1

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].

Gene Ontology

Biological process

regulation of transcription by RNA polymerase II protein export from nucleus protein export from nucleus brain development peripheral nervous system development Schwann cell differentiation positive regulation of Schwann cell differentiation positive regulation of Schwann cell differentiation

Molecular function

transcription cis-regulatory region binding transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific

Cellular component

chromatin nucleus nucleus nucleus nucleus nucleoplasm cytoplasm cytoplasm

Pathways

C-type lectin receptor signaling pathway - Homo sapiens (human)Hepatitis B - Homo sapiens (human)Human T-cell leukemia virus 1 infection - Homo sapiens (human)Viral carcinogenesis - Homo sapiens (human)Developmental Biology Developmental Biology Signal Transduction Signal Transduction Signaling by NTRKs Signaling by NTRKs

via MyGene.info

Gene · Ensembl

early growth response 2

Symbol: EGR2
Biotype: Protein coding
Organism: Homo sapiens
Location: 10:62,811,996-62,819,167
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein EGR2 PDB 1a1i.png

Show 5 more facts

HomoloGene ID: 20123
exact match: identifiers.org/ncbigene/1959
genomic start: 64571756
genomic end: 62819167
cytogenetic location: 10q21.3

Sources (4)

via Wikidata · CC0

~2 min read

Article

6 sections

Contents

Structure
Function
Clinical significance
References
Further reading
External links

== Structure == The EGR2 protein contains three tandem C2H2-type zinc finger domains that mediate specific DNA binding. These zinc fingers enable EGR2 to function as a transcriptional regulator of genes involved in neural development and myelination.