EGR2 Gene

Aliases
for EGR2 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC10M063383 GC10M063658 GC10M064464 GC10M063916 GC10M064241 GC10M058563

Summaries
for EGR2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for EGR2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000010.10  NT_030059.14  NC_018921.2  

SwitchGear Promoter luciferase reporter plasmid: EGR2 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EGR2

EGR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M064571:  view genomic region     (about GC identifiers)

Proteins
for EGR2 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for EGR2: NX_P11161

Explore proteomics data for EGR2 at MOPED

Post-translational modifications: 

EGR2 Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for EGR2
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	Search GeneTex for Proteins for EGR2
	antibodies-online proteins for EGR2 (11 products)
	antibodies-online peptides for EGR2

EGR2 Antibody Products:

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	antibodies-online antibodies for EGR2 (63 products)

EGR2 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	antibodies-online kits for EGR2 (27 products)

Domains /
Families
for EGR2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P11161

Find genes that share domains with EGR2           About GenesLikeMe

Function
for EGR2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

Selected MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Egr2)

genOway: Develop your customized and physiologically relevant rodent model for EGR2

		Selected GeneGlobe predicted Target genes for EGR2 (see all 368):
		ABCD3,  ACOX1,  ACTR1A,  ADRM1,  AGPS,  AHCTF1,  AHNAK,  AKAP8L,  ALDH3B1,  AMIGO1

Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer                                        Consensus sequence:  NGCGTGGGCGGR

miRNA Products:		miRTarBase miRNAs that target EGR2: hsa-mir-124-3p (MIRT022653), hsa-mir-100-5p (MIRT003417), hsa-mir-130b-3p (MIRT020183), hsa-mir-93-5p (MIRT028079), hsa-mir-150-5p (MIRT003222)
		Block miRNA regulation of human, mouse, rat EGR2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate EGR2 (see all 75):
		hsa-miR-140-5p hsa-miR-106a hsa-miR-200a hsa-miR-374a hsa-miR-3921 hsa-miR-519a hsa-miR-1273d hsa-miR-4325
		SwitchGear 3'UTR luciferase reporter plasmid: EGR2 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for EGR2
		Predesigned siRNA for gene silencing in human, mouse, rat EGR2

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for EGR2

Clone Products:		OriGene clones in human, mouse for EGR2 (see all 23) OriGene ORF clones in mouse, rat for EGR2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): EGR2 (NM_000399)
		Sino Biological Human cDNA Clone for EGR2
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EGR2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGR2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EGR2
		Browse ESI BIO Cell Lines and PureStem Progenitors for EGR2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGR2

Localization
for EGR2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5

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Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for EGR2 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for EGR2 About   (see all 9)   See pathways by source

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	SuperPath	Contained pathways About
1	L1CAM interactions	Developmental Biology 0.63
2	Calcineurin-regulated NFAT-dependent transcription in lymphocytes	Calcineurin-regulated NFAT-dependent transcription in lymphocytes 0.38
3	Fatty acid, triacylglycerol, and ketone body metabolism	Transcriptional Regulation of White Adipocyte Differentiation 0.38
4	Toll-like receptor signaling pathway	Hepatitis B 0.31
5	Viral carcinogenesis	Viral carcinogenesis

4 BioSystems Pathways for EGR2

	Adipogenesis
	BDNF signaling pathway
	IL4-mediated signaling events
	Calcineurin-regulated NFAT-dependent transcription in lymphocytes

1 Reactome Pathway for EGR2

Transcriptional regulation of white adipocyte differentiation

3 Kegg Pathways  (Kegg details for EGR2)

	Hepatitis B
	HTLV-I infection
	Viral carcinogenesis

    Pathway & Disease-focused RT² Profiler PCR Arrays including EGR2: 

Gene Ontology (GO): Selected biological process terms (see all 27):    About this table

Drugs & Compounds
for EGR2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for EGR2 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for EGR2 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EGR2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TAAATGGGTT

About this image

Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
Myelinating Schwann Cells Peripheral Nerve Domain
Schwann-like cells
Schwann Cells (Nervous System)    fully expand to see all 3 entries
Schwann-like cells
Ovary (Reproductive System)    fully expand to see all 4 entries
Mature Granulosa Cells Antral Follicle
Secondary follicles
Epithelial Cells
Fetal Precortex Cells Hair Shaft
Tendon & Ligament (Muscoskeletal System)    fully expand to see all 2 entries
Early Tenocyte Cells Limb Tendon Primordia

Primer Products:		OriGene qPCR primer pairs and template standards for EGR2 OriGene qSTAR qPCR primer pairs in human, mouse for EGR2
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EGR2
		QuantiTect SYBR Green Assays in human, mouse, rat EGR2
		QuantiFast Probe-based Assays in human, mouse, rat EGR2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGR2

Orthologs
for EGR2 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for EGR2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for EGR2 gene

EGR3²  EGR1²  EGR4²  WT1²  

3 SIMAP similar genes for EGR2 using alignment to 1 protein entry:     EGR2_HUMAN:

EGR3    EGR1    ZNF323

Find genes that share paralogs with EGR2           About GenesLikeMe

Genomic Variants
for EGR2 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for EGR2 (see all 181)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0299584		Charcot-Marie-Tooth disease 1D (CMT1D)4	--	see VAR_029958	2	R C	mis4		0	--	--	--	--
VAR_0077384		Charcot-Marie-Tooth disease 1D (CMT1D)4	--	see VAR_007738	2	R W	mis4		0	--	--	--	--
VAR_0077354		Neuropathy, congenital hypomyelinating or amyelinating (CHN)4	--	see VAR_007735	2	I N	mis4		0	--	--	--	--
VAR_0098754		Charcot-Marie-Tooth disease 1D (CMT1D)4	--	see VAR_009875	2	R H	mis4		0	--	--	--	--
VAR_0299594		Charcot-Marie-Tooth disease 1D (CMT1D)4	--	see VAR_029959	2	D Y	mis4		0	--	--	--	--
VAR_0098744		Dejerine-Sottas syndrome (DSS)4	--	see VAR_009874	2	R W	mis4		0	--	--	--	--
VAR_0077364		Charcot-Marie-Tooth disease 1D (CMT1D)4	--	see VAR_007736	2	D V	mis4		0	--	--	--	--
rs1048941591,2	C	pathogenic1	64945911(-)	TTGCCC/TGGAGT	8	R W	mis1		0	--	--	--	--
rs1048941601,2	C	pathogenic1	64945989(-)	GCAGTG/TACCAC	8	D Y	mis1		0	--	--	--	--
rs1048941611,2	C	pathogenic1	64946061(-)	TGACAC/TGGCAC	8	R W	mis1		0	--	--	--	--

HapMap Linkage Disequilibrium report for EGR2 (64571756 - 64679660 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for EGR2:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv895570	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): EGR2
Locus Specific Mutation Databases (LSDB): EGR2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing EGR2

DNA2.0 Custom Variant and Variant Library Synthesis for EGR2

Disorders / Diseases
for EGR2 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The disease is caused by mutations affecting the gene

represented in this entry

10 diseases for EGR2:    
About MalaCards

Selected Novoseek inferred disease relationships for EGR2 gene (see all 13)    About this table

Publications
for EGR2 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for EGR2 gene, integrated from 10 sources (see all 174): (articles sorted by number of sources associating them with EGR2)

Utopia: connect your pdf to the dynamic world of online information

1. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. (PubMed id 10502832)^{1, 2, 4, 9} Bellone E.... Mandich P. (Hum. Mutat. 1999)
2. The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein. (PubMed id 2111009)^{1, 2, 9} Rangnekar V.M.... Sukhatme V.P. (Nucleic Acids Res. 1990)
3. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. (PubMed id 9537424)^{1, 2, 9} Warner L.E.... Lupski J.R. (Nat. Genet. 1998)
4. Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. (PubMed id 16198564)^{1, 4, 9} MikesovA! E....Seeman P. (Neuromuscul. Disord. 2005)
5. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot- Marie-Tooth disease family. (PubMed id 15947997)^{1, 2, 9} Chung K.W.... Choi B.O. (Neurogenetics 2005)
6. Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. (PubMed id 12736090)^{1, 2, 9} Numakura C.... Hayasaka K. (J. Neurol. Sci. 2003)
7. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PubMed id 15241803)^{1, 2, 9} Choi B.-O.... Chung K.W. (Hum. Mutat. 2004)
8. A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (PubMed id 11239949)^{1, 2, 9} Yoshihara T.... Sobue G. (J. Neurol. Sci. 2001)
9. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. (PubMed id 10762521)^{1, 2, 9} Pareyson D.... Sghirlanzoni A. (Neurology 2000)
10. Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (PubMed id 16912585)^{1, 4, 9} Song S....Zhong N. (Genet. Med. 2006)

External Searches for EGR2 gene

Genome Databases showing EGR2 gene

Other Databases showing EGR2 gene

Specialized Databases showing EGR2 gene

Products
for EGR2 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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