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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)
  See related diseases
at
MalaCards
 

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)
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


Summaries
for EGR2 gene

(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


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 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

Proteins
for EGR2 gene

(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 

    EGR2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000390.2  NP_001129649.1  NP_001129650.1  NP_001129651.1  

    ENSEMBL proteins: 
     ENSP00000242480   ENSP00000402040   ENSP00000387634  

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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 IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--

    EGR2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for EGR2 
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    Protein Domains /
    Families
    for EGR2 gene

    (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


    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, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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 IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding ISS--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA14532282
    GO:0005515protein binding IPI14532282
         
    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:
         MGI mouse knock-outs for EGR2: Egr2tm1Jmi Egr2tm3.1Pch Egr2tm1Grid

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EGR2 
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    miRNA
    Products:            		miRTarBase miRNAs that target EGR2:
    hsa-mir-100 (MIRT003417), hsa-mir-150 (MIRT003222)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EGR2
    8/75 QIAGEN miScript miRNA 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
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of EGR2

    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGR2


    Pathways & Interactions
    for EGR2 gene

    (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

    SuperPathContained pathways About
    1Calcium signaling in the CD4+ TCR pathway
    		Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    2Toll-like receptor signaling pathway
    		Hepatitis B0.31
    3Viral carcinogenesis
    		Viral carcinogenesis
    4IL4-mediated signaling events
    		IL4-mediated signaling events
    5BDNF 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 CentralTM 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 (P111612, 3 ENSP000002424804) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACP5P136862, 3MINT-63454 I2D: score=5 
    MED31Q9Y3C72, 3, ENSP000002257284MINT-63455 I2D: score=5 STRING: ENSP00000225728
    HCFC1P516103, ENSP000003095554I2D: score=4 STRING: ENSP00000309555
    NAB2Q157423, ENSP000003001314I2D: score=2 STRING: ENSP00000300131
    WWP2O003083, ENSP000003482834I2D: 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 IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter ISS--
    GO:0006611protein export from nucleus ISS--
    GO:0007420brain development TAS9537424
    GO:0007422peripheral nervous system development TAS9537424

    EGR2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EGR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, 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

    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,
    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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    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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    Inhib. RNA
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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

    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 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
    EGR2 Expression
    About this image


    EGR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Mature Granulosa Cells Antral Follicle
             Secondary follicles
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 3 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Hair (Integumentary System)    fully expand to see all 3 entries
             Fetal Precortex Cells Hair Shaft
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Myelinating Schwann Cells Peripheral Nerve Domain
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System

    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
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    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)
    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 Egr21 , 5 early growth response 21, 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
    for EGR2 gene

    (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



    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) 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

    10/181 SNPs in EGR2 are shown (see all 181)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0299584
    		Charcot-Marie-Tooth disease 1D (CMT1D)4--see VAR_0299582 R C mis40--------
    VAR_0077384
    		Charcot-Marie-Tooth disease 1D (CMT1D)4--see VAR_0077382 R W mis40--------
    VAR_0077354
    		Neuropathy, congenital hypomyelinating or amyelinating (CHN)4--see VAR_0077352 I N mis40--------
    VAR_0098754
    		Charcot-Marie-Tooth disease 1D (CMT1D)4--see VAR_0098752 R H mis40--------
    VAR_0299594
    		Charcot-Marie-Tooth disease 1D (CMT1D)4--see VAR_0299592 D Y mis40--------
    VAR_0098744
    		Dejerine-Sottas syndrome (DSS)4--see VAR_0098742 R W mis40--------
    VAR_0077364
    		Charcot-Marie-Tooth disease 1D (CMT1D)4--see VAR_0077362 D V mis40--------
    rs1048941591,2
    		Cpathogenic164945911(-) TTGCCC/TGGAGT 8 R W mis10--------
    rs1048941601,2
    		Cpathogenic164945989(-) GCAGTG/TACCAC 8 D Y mis10--------
    rs1048941611,2
    		Cpathogenic164946061(-) TGACAC/TGGCAC 8 R W mis10--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EGR2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv895570CNV Loss21882294


    Human Gene Mutation Database (HGMD): EGR2

    Locus Specific Mutation Databases (LSDB): EGR2
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 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

    EGR2 for disorders           About GeneDecksing

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

    Export disorders for EGR2 gene to outside databases

    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)
    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

    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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2006)

    External Searches for EGR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EGR2 gene

    (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

    Other Databases showing EGR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EGR2 gene

    (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
    NameDescription
    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 dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EGR2

    Intellectual Property
    for EGR2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EGR2 gene:
    Search GeneIP for patents involving EGR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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