Entity Details

Primary name EGR2
Entity type gene
Source Source Link

Details

PrimaryID1959
RefseqGeneNG_008936
SymbolEGR2
Nameearly growth response 2
Chromosome10
Location10q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-12-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEGR2_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006611 protein export from nucleus
GO:0007399 nervous system development
GO:0007420 brain development
GO:0007422 peripheral nervous system development
GO:0007611 learning or memory
GO:0007622 rhythmic behavior
GO:0008045 motor neuron axon guidance
GO:0010467 gene expression
GO:0014037 Schwann cell differentiation
GO:0014040 positive regulation of Schwann cell differentiation
GO:0016925 protein sumoylation
GO:0021612 facial nerve structural organization
GO:0021659 rhombomere 3 structural organization
GO:0021660 rhombomere 3 formation
GO:0021665 rhombomere 5 structural organization
GO:0021666 rhombomere 5 formation
GO:0030278 regulation of ossification
GO:0031625 ubiquitin protein ligase binding
GO:0031643 positive regulation of myelination
GO:0032868 response to insulin
GO:0035284 brain segmentation
GO:0035914 skeletal muscle cell differentiation
GO:0042552 myelination
GO:0043231 intracellular membrane-bounded organelle
GO:0043565 sequence-specific DNA binding
GO:0045444 fat cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048168 regulation of neuronal synaptic plasticity
GO:0061665 SUMO ligase activity
GO:0071310 cellular response to organic substance
GO:0071837 HMG box domain binding
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
605253 OMIMNeuropathy, congenital hypomyelinating, 1, autosomal recessive (CHN1)A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. The disease is caused by variants affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2 (PubMed:22522483).
607678 OMIMCharcot-Marie-Tooth disease 1D (CMT1D)A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. The disease is caused by variants affecting the gene represented in this entry.
145900 OMIMDejerine-Sottas syndrome (DSS)A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. The disease is caused by variants affecting the gene represented in this entry.