InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EGR2

Summary

InnateDB Protein

IDBP-377438.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EGR2

Protein Name

early growth response 2

Synonyms

AT591; CMT1D; CMT4E; KROX20;

Species

Homo sapiens

Ensembl Protein

ENSP00000387634

InnateDB Gene

IDBG-75626 (EGR2)

Protein Structure

UniProt Annotation

Function

Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4. {ECO:0000269PubMed:21836637}.E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity. {ECO:0000269PubMed:21836637}.

Subcellular Localization

Nucleus.

Disease Associations

Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: 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. Inheritance can be autosomal dominant or recessive. {ECO:0000269PubMed:22522483, ECO:0000269PubMed:9537424}. Note=The disease is caused by mutations 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). {ECO:0000269PubMed:22522483}.Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]: 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. {ECO:0000269PubMed:10502832, ECO:0000269PubMed:10762521, ECO:0000269PubMed:11239949, ECO:0000269PubMed:12736090, ECO:0000269PubMed:15241803, ECO:0000269PubMed:15947997, ECO:0000269PubMed:9537424, ECO:0000269Ref.15}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dejerine-Sottas syndrome (DSS) [MIM:145900]: 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. {ECO:0000269PubMed:10371530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	18 [view]
Protein-DNA	7 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001102	RNA polymerase II activating transcription factor binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0016874	ligase activity
GO:0031625	ubiquitin protein ligase binding
GO:0044212	transcription regulatory region DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0006366	transcription from RNA polymerase II promoter
GO:0006611	protein export from nucleus
GO:0007420	brain development
GO:0007422	peripheral nervous system development
GO:0008219	cell death
GO:0016925	protein sumoylation
GO:0035914	skeletal muscle cell differentiation
GO:0042552	myelination
GO:0043066	negative regulation of apoptotic process
GO:0045444	fat cell differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048168	regulation of neuronal synaptic plasticity
GO:0071320	cellular response to cAMP
GO:0071371	cellular response to gonadotropin stimulus