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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EGR2 Gene

protein-coding GIFtS: 70
GCID: GC10M064571

Early Growth Response 2

(Previous names: early growth response 2 (Krox-20 homolog, Drosophila))
(Previous symbol: KROX20)

40 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Early Growth Response 2¹ ²		Krox-20 Homolog¹
KROX20¹ ² ³ ⁵		CMT1D²
Early Growth Response Protein 2² ³		CMT4E²
Zinc Finger Protein Krox-20² ³		E3 SUMO-Protein Ligase EGR2²
AT591² ³		KROX-20, Drosophila, Homolog (Early Growth Response-2)²
Drosophila¹		EC 6.3.2.-³
Early Growth Response 2 (Krox-20 Homolog, Drosophila)¹		EGR-2³

External Ids:	HGNC: 3239¹	Entrez Gene: 1959²	Ensembl: ENSG00000122877⁷	OMIM: 129010⁵	UniProtKB: P11161³

Export aliases for EGR2 gene to outside databases

Previous GC identifers: GC10M063383 GC10M063658 GC10M064464 GC10M063916 GC10M064241 GC10M058563

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EGR2 Gene:

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)

GeneCards Summary for EGR2 Gene:

EGR2 (early growth response 2) is a protein-coding gene. Diseases associated with EGR2 include congenital hypomyelination neuropathy, and charcot-marie-tooth disease type 1d, and among its related super-pathways are Calcium signaling in the CD4+ TCR pathway and Toll-like receptor signaling pathway. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is EGR3.

UniProtKB/Swiss-Prot: EGR2_HUMAN, P11161

Function: Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter

region of HOXA4

Function: E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation

down-regulates EGR2 own transcriptional activity

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NT_030059.13 NC_018921.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EGR2 gene promoter:
SRF SRF (504 AA)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EGR2 promoter sequence

Search SABiosciences Chromatin IP Primers for EGR2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EGR2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q21.1 Ensembl cytogenetic band: 10q21.3 HGNC cytogenetic band: 10q21.1

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

GeneLoc information about chromosome 10 GeneLoc Exon Structure

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

Start:	64,571,756 bp from pter	End:	64,679,660 bp from pter
Size:	107,905 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EGR2_HUMAN, P11161 (See protein sequence)

Recommended Name: E3 SUMO-protein ligase EGR2

Size: 476 amino acids; 50302 Da

Subunit: Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9

Subcellular location: Nucleus

Sequence caution: Sequence=AAA52372.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAA52372.1; Type=Frameshift; Positions=449;

Secondary accessions: B2R724 B3KRD7 Q68CZ5 Q8IV26 Q9UNA6

Alternative splicing: 2 isoforms: P11161-1 P11161-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EGR2: NX_P11161

Explore proteomics data for EGR2 at MOPED

Post-translational modifications:

UniProtKB: Ubiquitinated by WWP2 leading to proteasomal degradation (By similarity)

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P11161

EGR2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

NP_000390.2 NP_001129649.1 NP_001129650.1 NP_001129651.1

ENSEMBL proteins:

ENSP00000242480 ENSP00000402040 ENSP00000387634

Human Recombinant Protein Products for EGR2:

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	Cloud-Clone Corp. Proteins for EGR2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	ISS	--

EGR2 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

ZNF: Zinc fingers, C2H2-type

4 InterPro protein domains:

IPR015880 Znf_C2H2-like

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR007087 Znf_C2H2

IPR021849 DUF3446

Graphical View of Domain Structure for InterPro Entry P11161

ProtoNet protein and cluster: P11161

1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

UniProtKB/Swiss-Prot: EGR2_HUMAN, P11161

Similarity: Belongs to the EGR C2H2-type zinc-finger protein family

Similarity: Contains 3 C2H2-type zinc fingers

EGR2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: EGR2_HUMAN, P11161

Function: Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter

region of HOXA4

Function: E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation

down-regulates EGR2 own transcriptional activity

Genatlas biochemistry entry for EGR2:

immediate early growth response,gene 2 (pAT591),involved in early myelination of the peripheral nervous system

Enzyme Number (IUBMB): EC 6.3.2.-¹

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	--
GO:0003677	DNA binding	--	--
GO:0003682	chromatin binding	ISS	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	14532282
GO:0005515	protein binding	IPI	14532282

EGR2 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for EGR2:

Increased gamma-H2AX phosphory

Synthetic lethal with cisplati

15/17 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Egr2) (see all 17):

behavior/neurological	cellular	craniofacial	embryogenesis	growth/size
hearing/vestibular/ear	homeostasis/metabolism	integument	limbs/digits/tail	mortality/aging
nervous system	no phenotypic analysis	normal	reproductive system	respiratory system

EGR2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for EGR2: Egr2^tm1Jmi Egr2^tm3.1Pch Egr2^tm1Grid

inGenious Targeting Laboratory - Custom generated mouse model solutions for EGR2

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EGR2

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		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

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGR2

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for EGR2 About (see all 7)

See pathways by source

SuperPath

Contained pathways About

Calcium signaling in the CD4+ TCR pathway

Calcineurin-regulated NFAT-dependent transcription in lymphocytes

0.38

Toll-like receptor signaling pathway

Hepatitis B

0.31

Viral carcinogenesis

Viral carcinogenesis

IL4-mediated signaling events

IL4-mediated signaling events

BDNF signaling pathway

BDNF signaling pathway

Pathways by source See SuperPaths
Show all pathways

4 BioSystems Pathways for EGR2

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

3 Kegg Pathways (Kegg details for EGR2):

	Hepatitis B
	HTLV-I infection
	Viral carcinogenesis

UniProtKB/Swiss-Prot: EGR2_HUMAN, P11161

Pathway: Protein modification; protein sumoylation

EGR2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EGR2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/71 Interacting proteins for EGR2 (P11161^{2, 3} ENSP00000242480⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACP5	P13686²^,³	MINT-63454 I2D: score=5
MED31	Q9Y3C7²^,³, ENSP00000225728⁴	MINT-63455 I2D: score=5 STRING: ENSP00000225728
HCFC1	P51610³, ENSP00000309555⁴	I2D: score=4 STRING: ENSP00000309555
NAB2	Q15742³, ENSP00000300131⁴	I2D: score=2 STRING: ENSP00000300131
WWP2	O00308³, ENSP00000348283⁴	I2D: score=2 STRING: ENSP00000348283

About this table

Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	ISS	--
GO:0006611	protein export from nucleus	ISS	--
GO:0007420	brain development	TAS	9537424
GO:0007422	peripheral nervous system development	TAS	9537424

EGR2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EGR2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EGR2

5 Novoseek inferred chemical compound relationships for EGR2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	44.1	13	2111009 (3), 9987007 (1), 8443122 (1), 8035792 (1) (see all 9)
dbc-amp	25.8	2	1331750 (1)
dexamethasone	8.45	3	1497907 (2), 1864967 (1)
calcium	0	5	7812677 (2), 18678671 (1)
tyrosine	0	1	10080384 (1)

Search CenterWatch for drugs/clinical trials and news about EGR2

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EGR2 gene (4 alternative transcripts):

NM_000399.3 NM_001136177.1 NM_001136178.1 NM_001136179.1

Unigene Cluster for EGR2:

Early growth response 2

Hs.1395 [show with all ESTs]

Unigene Representative Sequence: BC035625

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000242480(uc010qim.2 uc001jmi.3) ENST00000493899 ENST00000439032(uc010qio.2 uc009xph.3)

ENST00000411732(uc010qin.2)

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Additional mRNA sequence:

AF139463.1 AK091399.1 AK296830.1 AK312813.1 BC035625.1 CR749641.1 J04076.1

7 DOTS entries:

DT.100748388 DT.211438 DT.95159416 DT.121263753 DT.121263774 DT.100692586 DT.92421282

24/69 AceView cDNA sequences (see all 69):

BG743293 AK091399 BI772084 AF139463 BC035625 AU141563 BQ716551 BQ019107

CA306038 CD370447 BX956513 AU142101 AI801548 BU626755 AW338296 AI588869

BQ771856 CR749641 AL569994 BI002784 BG231581 BQ893461 AA593330 AI190587

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for EGR2 About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	·	4c	·	4d
SP1:					-		-
SP2:							-
SP3:									-
SP4:

ECgene alternative splicing isoforms for EGR2

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EGR2 expression in normal human tissues (normalized intensities) EGR2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TAAATGGGTT

About this image

EGR2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/10 selected tissues (see all 10) fully expand


Ovary (Reproductive System) fully expand to see all 4 entries
Mature Granulosa Cells Antral Follicle
Secondary follicles

Tendons & Ligaments (Muscoskeletal System) fully expand to see all 3 entries
Early Tenocyte Cells Limb Tendon Primordia

Reproductive System (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Secondary follicles

Bone (Muscoskeletal System) fully expand to see all 2 entries
HyStem+TGFbeta3+GDF5-induced 7PEND24 cells

Cartilage (Muscoskeletal System) fully expand to see all 2 entries
HyStem+TGFbeta3+GDF5-induced 7PEND24 cells

See EGR2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EGR2

SOURCE GeneReport for Unigene cluster: Hs.1395

SABiosciences Expression via Pathway-Focused PCR Arrays including EGR2:

cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

NFKB Signaling Targets in human mouse rat

T-Cell Anergy & Immune Tolerance in human mouse rat

Synaptic Plasticity in human mouse rat

Adipogenesis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGR2

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for EGR2 gene from 6/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Egr2^{1 , 5}	early growth response 2^{1, 5}	86.52(n)¹ 89.79(a)¹		10 (34.96 cM)⁵ 13654¹ NM_010118.3¹ NP_034248.2¹ 67535475⁵
lizard (Anolis carolinensis)	Reptilia	EGR2⁶	Uncharacterized protein	59(a)	1 ↔ 1	GL343204.1(2650531-2656564)
African clawed frog (Xenopus laevis)	Amphibia	egr2-A²	early growth response 2 (Krox-20 homolog)	74.77(n)		S56884.1
zebrafish (Danio rerio)	Actinopterygii	egr2b²	early growth response 2b	74.33(n)		30190 NM_130997.1
fruit fly (Drosophila melanogaster)	Insecta	sr³	tracheal cell migration (sensu Insecta) RNA polymerase more	78(a)		--
worm (Caenorhabditis elegans)	Secernentea	C27C12.2³	Zinc finger, C2H2 type (3 domains)	83(a) (best of 2)		X(14881084-14882208) --

ENSEMBL Gene Tree for EGR2 (if available)
TreeFam Gene Tree for EGR2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

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

EGR2 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
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	--	--	--	--
rs104894159^1,2	C	pathogenic¹	64945911(-)	`TTGCCC/TGGAGT`	8	R W	mis¹		0	--	--	--	--
rs104894160^1,2	C	pathogenic¹	64945989(-)	`GCAGTG/TACCAC`	8	D Y	mis¹		0	--	--	--	--
rs104894161^1,2	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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EGR2 for disorders           About GeneDecksing

OMIM gene information: 129010
OMIM disorders: 605253  607678  145900
UniProtKB/Swiss-Prot: EGR2_HUMAN, P11161

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. 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)

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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

20/40 diseases for EGR2 (see all 40): About MalaCards

congenital hypomyelination neuropathy charcot-marie-tooth disease type 1d charcot-marie-tooth neuropathy type 1d neuropathy, congenital hypomyelinating, 1

charcot-marie-tooth neuropathy type 4 charcot-marie-tooth disease type 4 charcot-marie-tooth neuropathy type 4e tooth disease

charcot-marie-tooth disease type 1 charcot-marie-tooth neuropathy type 1 charcot-marie-tooth disease type 4e charcot-marie-tooth disease

inherited peripheral neuropathy charcot-marie-tooth neuropathy axonal neuropathy peripheral neuropathy

rett syndrome scoliosis polyneuropathy wilms tumor

3 diseases from the University of Copenhagen DISEASES database for EGR2:

Neuropathy Myopathy Demyelinating polyneuropathy

10/13 Novoseek inferred disease relationships for EGR2 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neuropathy, congenital hypomyelinating	95.3	6	11523566 (1), 12030330 (1), 9537424 (1), 16872830 (1) (see all 6)
dejerine-sottas disease	92	6	11523566 (2), 12030330 (1), 12736090 (1), 10371530 (1) (see all 5)
charcot-marie-tooth disease	91.6	16	19691535 (2), 15241803 (2), 11523566 (1), 20513111 (1) (see all 14)
myelinopathy	88.3	6	9537424 (2), 11523566 (1), 10369870 (1), 12030330 (1)
hereditary peripheral neuropathy	83	1	16988048 (1)
dental disorder	60.8	2	11493034 (1), 11239949 (1)
sensory neuropathy	57.6	2	16106622 (1), 19327944 (1)
demyelination	46.6	2	16988048 (2)
wilms tumor	43.6	4	1367123 (1), 2072895 (1), 14965266 (1), 8584037 (1)
polyneuropathy	34.2	1	16106622 (1)

GeneTests: EGR2

Charcot-Marie-Tooth Neuropathy Type 1

Charcot-Marie-Tooth Neuropathy Type 4

Genetic Association Database (GAD): EGR2
Human Genome Epidemiology (HuGE) Navigator: EGR2 (15 documents)

Export disorders for EGR2 gene to outside databases

(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)
About This Section

PubMed articles for EGR2 gene, integrated from 9 sources (see all 172):
(articles sorted by number of sources associating them with EGR2)

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

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. (1999)
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. (1990)
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. (1998)
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. (PubMed id 16198564)^{1, 4, 9} Mikesova E....Seeman P. (2005)
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. (2005)
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. (2003)
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. (2004)
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. (2001)
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. (2000)
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. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1959	HGNC: 3239	AceView: EGR2	Ensembl:ENSG00000122877	euGenes: HUgn1959
ECgene: EGR2	Kegg: 1959	H-InvDB: EGR2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EGR2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EGR2	Genetics and Cytogenetics in Oncology and Haematology
Inherited peripheral neuropathies mutation db	http://www.molgen.ua.ac.be/CMTMutations/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EGR2

Intellectual Property for EGR2 gene
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Patent Information for EGR2 gene:
Search GeneIP for patents involving EGR2

GeneCards and IP:
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