EGR2
Identifiers
Aliases	EGR2, AT591, CMT1D, CMT4E, KROX20, early growth response 2, CHN1
External IDs	OMIM: 129010 MGI: 95296 HomoloGene: 20123 GeneCards: EGR2
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q21.3 Start 62,811,996 bp[1] End 62,819,167 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B5.1|10 34.96 cM Start 67,535,475 bp[2] End 67,542,188 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gallbladder tibial nerve monocyte gastric mucosa smooth muscle tissue sural nerve skin of abdomen lymph node appendix anterior pituitary Top expressed in neuromere rhombomere lip zone of skin spinal nerve ureter urethra thymus male urethra basal forebrain More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity HMG box domain binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding nucleic acid binding ubiquitin protein ligase binding transferase activity DNA-binding transcription factor activity, RNA polymerase II-specific SUMO ligase activity Cellular component cytoplasm nucleus nucleoplasm intracellular membrane-bounded organelle Biological process cellular response to organic substance rhythmic behavior peripheral nervous system development regulation of transcription, DNA-templated rhombomere 3 development brain segmentation transcription by RNA polymerase II protein sumoylation rhombomere 3 formation transcription, DNA-templated response to insulin positive regulation of transcription, DNA-templated brain development rhombomere 5 formation protein export from nucleus learning or memory skeletal muscle cell differentiation Schwann cell differentiation regulation of neuronal synaptic plasticity myelination facial nerve structural organization regulation of ossification motor neuron axon guidance fat cell differentiation positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1959 13654 Ensembl ENSG00000122877 ENSMUSG00000037868 UniProt P11161 P08152 RefSeq (mRNA) NM_000399 NM_001136177 NM_001136178 NM_001136179 NM_001321037 NM_010118 NM_001347458 RefSeq (protein) NP_000390 NP_001129649 NP_001129650 NP_001129651 NP_001307966 NP_001334387 NP_034248 NP_001360912 NP_001360914 NP_001360915 NP_001360916 Location (UCSC) Chr 10: 62.81 – 62.82 Mb Chr 10: 67.54 – 67.54 Mb PubMed search [3] [4]
Wikidata
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Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene. EGR2 (also termed Krox20) is a transcription regulatory factor, containing three zinc finger DNA-binding sites, and is highly expressed in a population of migrating neural crest cells.^[5][6][7] It is later expressed in the neural crest derived cells of the cranial ganglion. The protein encoded by Krox20 contains two cys2his2-type zinc fingers. Krox20 gene expression is restricted to the early hindbrain development.^[6][8] It is evolutionarily conserved in vertebrates, humans, mice, chicks, and zebra fish.^[9] In addition, the amino acid sequence and most aspects of the embryonic gene pattern is conserved among vertebrates, further implicating its role in hindbrain development.^{[7][10][11][12]} When the Krox20 is deleted in mice, the protein coding ability of the Krox20 gene (including the DNA-binding domain of the zinc finger) is diminished. These mice are unable to survive after birth and exhibit major hindbrain defects.^[6][8] These defects include but are not limited to defects in formation of cranial sensory ganglia, partial fusion of the trigeminal nerve (V) with the facial (VII) and auditory (VII) nerves, the proximal nerve roots coming off of these ganglia were disorganized and intertwined among one another as they entered the brainstem, and there was fusion of the glossopharyngeal (IX) nerve complex.^[13][14][15]

Function

The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1D,^[16] Dejerine–Sottas disease,^[17] and Congenital Hypomyelinating Neuropathy.^[18] Two studies have linked EGR2 expression to proliferation of osteoprogenitors ^[19] and cell lines derived from Ewing sarcoma, which is a highly aggressive bone-associated cancer.^[20]

New research suggests that Krox20 - or the lack of it - is the reason for male baldness.^[21]