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    EGR2 early growth response 2 [ Homo sapiens ]

    Gene ID: 1959, updated on 11-May-2012
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    Summary

    Official Symbol
    EGR2provided by HGNC
    Official Full Name
    early growth response 2provided by HGNC
    Primary source
    HGNC:3239
    See related
    Ensembl:ENSG00000122877; HPRD:00551; MIM:129010; Vega:OTTHUMG00000018308
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT591; CMT1D; CMT4E; KROX20; FLJ14547; DKFZp686J1957
    Summary
    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]
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    Genomic context

    Location :
    10q21.1
    Sequence :
    Chromosome: 10; NC_000010.10 (64571756..64578927, complement)
    See EGR2 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 7 family, member A1 pseudogene 4 Neighboring gene 2-aminoethanethiol (cysteamine) dioxygenase Neighboring gene nuclear receptor binding factor 2 Neighboring gene jumonji domain containing 1C Neighboring gene TatD DNase domain containing 1 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. Postel-Vinay S, et al. Nat Genet, 2012 Feb 12. PMID 22327514.
    2. The transcription factor Krox20 is an E3 ligase that sumoylates its Nab coregulators. García-Gutiérrez P, et al. EMBO Rep, 2011 Sep 30. PMID 21836637.
    3. Early growth response-2 expression in uterine leiomyoma cells: regulation and function. Yin P, et al. Fertil Steril, 2011 Aug. PMID 21703609.
    4. The early growth response gene Egr2 (Alias Krox20) is a novel transcriptional target of transforming growth factor-β that is up-regulated in systemic sclerosis and mediates profibrotic responses. Fang F, et al. Am J Pathol, 2011 May. PMID 21514423.
    5. Serum response factor regulates immediate early host gene expression in Toxoplasma gondii-infected host cells. Wiley M, et al. PLoS One, 2011 Mar 29. PMID 21479245.

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
      Title: Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
    2. Krox20 functions as a SUMO ligase for its coregulators--the Nab proteins--and that Nab sumoylation negatively modulates Krox20 transcriptional activity in vivo.
      Title: The transcription factor Krox20 is an E3 ligase that sumoylates its Nab coregulators.
    3. TGF-beta3 regulated Egr-2 gene expression in uterine leiomyoma cells.
      Title: Early growth response-2 expression in uterine leiomyoma cells: regulation and function.
    4. these findings suggest that Egr-2 plays an important nonredundant role in the pathogenesis of fibrosis.
      Title: The early growth response gene Egr2 (Alias Krox20) is a novel transcriptional target of transforming growth factor-β that is up-regulated in systemic sclerosis and mediates profibrotic responses.
    5. These data define serum response factor as a host cell transcription factor that regulates immediate early gene expression in Toxoplasma-infected cells.
      Title: Serum response factor regulates immediate early host gene expression in Toxoplasma gondii-infected host cells.
    6. EGR2 is a direct transcriptional target of p53 family that can in part mediate the p53-dependent apoptotic pathway.
      Title: Identification and characterization of early growth response 2, a zinc-finger transcription factor, as a p53-regulated proapoptotic gene.
    7. Results suggest that in many cells of neuroectodermal and epithelial origin EGR1, EGR2, and EGR3 activate NAB2 transcription which is in turn repressed by NAB2, thus establishing a negative feedback loop.
      Title: EGR1, EGR2, and EGR3 activate the expression of their coregulator NAB2 establishing a negative feedback loop in cells of neuroectodermal and epithelial origin.
    8. Schwann cells expressed myelin proteins and Krox20 which is an important regulator of peripheral myelination.
      Title: Yy1 as a molecular link between neuregulin and transcriptional modulation of peripheral myelination.
    9. EGR2 is a genetic risk factor for Systemic lupus erythematosus (SLE), in which increased gene expression may contribute to SLE pathogenesis.
      Title: Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus.
    10. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
    Submit: New GeneRIF Correction See all (31)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Charcot-Marie-Tooth disease, type 1D

    Dejerine-Sottas neuropathy

    Neuropathy, congenital hypomyelinating, 1

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat (through amino acids 30-40) binds to Egr-2 and synergizes with this protein to super induce the FasL promoter PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000390.2 NC_000001.8 FASLG    BIND  PubMed EGR2 interacts with p-FasL (FasL promoter). 
    P11161 P13686 ACP5    HPRD  PubMed  
    P11161 P51610 HCFC1    HPRD  PubMed  
    P11161 Q9Y3C7 MED31    HPRD  PubMed  
    P11161 P56693 SOX10    HPRD  PubMed  
    P11161 P57073 SOX8    HPRD  PubMed  
    BioGRID:108279 BioGRID:106570 ACP5    BioGRID  PubMed Two-hybrid 
    BioGRID:108279 BioGRID:109304 HCFC1    BioGRID  PubMed Two-hybrid 
    BioGRID:108279 BioGRID:119211 MED31    BioGRID  PubMed Two-hybrid 
    BioGRID:108279 BioGRID:110747 NAB2    BioGRID  PubMed Biochemical Activity 
    BioGRID:108279 BioGRID:110845 NFATC1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108279 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108279 BioGRID:113177 UBE2I    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108279 BioGRID:116244 WWP2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
      Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem
      Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Transcriptional Regulation of White Adipocyte Differentiation, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation of White Adipocyte Differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    RNA polymerase II activating transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription regulatory region DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    Schwann cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    brain development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    brain segmentation IEA
    Inferred from Electronic Annotation
    more info
    		  
    facial nerve structural organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    motor axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    peripheral nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of transcription, DNA-dependent ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein export from nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    rhombomere 3 development IEA
    Inferred from Electronic Annotation
    more info
    		  
    rhombomere 3 formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    rhombomere 5 formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    rhythmic behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IC
    Inferred by Curator
    more info
    		 PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
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    General protein information

    Preferred Names
    E3 SUMO-protein ligase EGR2
    Names
    E3 SUMO-protein ligase EGR2
    zinc finger protein Krox-20
    early growth response protein 2
    KROX-20, Drosophila, homolog (early growth response-2)
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008936.2 RefSeqGene

      Range
      105734..112904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000399.3 → NP_000390.2  E3 SUMO-protein ligase EGR2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform.
      Source sequence(s)
      AF139463, AK091399, CD370447, DB242561
      Consensus CDS
      CCDS7267.1
      UniProtKB/Swiss-Prot
      P11161
      Related
      ENSP00000242480, OTTHUMP00000019675, ENST00000242480, OTTHUMT00000048245
      Conserved Domains (3) summary
      pfam11928
      Location:94 – 184
      Blast Score: 123
      DUF3446; Domain of unknown function (DUF3446)
      pfam13465
      Location:384 – 409
      Blast Score: 107
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:345 – 364
      Blast Score: 78
      zf-C2H2; Zinc finger, C2H2 type

    2. NM_001136177.1 → NP_001129649.1  E3 SUMO-protein ligase EGR2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform.
      Source sequence(s)
      AF139463, AK091399, CD370447, DA581108
      Consensus CDS
      CCDS7267.1
      UniProtKB/Swiss-Prot
      P11161
      Conserved Domains (3) summary
      pfam11928
      Location:94 – 184
      Blast Score: 123
      DUF3446; Domain of unknown function (DUF3446)
      pfam13465
      Location:384 – 409
      Blast Score: 107
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:345 – 364
      Blast Score: 78
      zf-C2H2; Zinc finger, C2H2 type

    3. NM_001136178.1 → NP_001129650.1  E3 SUMO-protein ligase EGR2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform.
      Source sequence(s)
      AF139463, AK091399, AK312813, CD370447
      Consensus CDS
      CCDS7267.1
      UniProtKB/Swiss-Prot
      P11161
      Related
      ENSP00000402040, ENST00000439032
      Conserved Domains (3) summary
      pfam11928
      Location:94 – 184
      Blast Score: 123
      DUF3446; Domain of unknown function (DUF3446)
      pfam13465
      Location:384 – 409
      Blast Score: 107
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:345 – 364
      Blast Score: 78
      zf-C2H2; Zinc finger, C2H2 type

    4. NM_001136179.1 → NP_001129651.1  E3 SUMO-protein ligase EGR2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK091399, CD370447, DA581108
      Consensus CDS
      CCDS44409.1
      UniProtKB/Swiss-Prot
      P11161
      Related
      ENSP00000387634, ENST00000411732
      Conserved Domains (3) summary
      pfam11928
      Location:44 – 134
      Blast Score: 121
      DUF3446; Domain of unknown function (DUF3446)
      pfam13465
      Location:334 – 359
      Blast Score: 104
      zf-H2C2_2; Zinc-finger double domain
      cl15478
      Location:295 – 314
      Blast Score: 75
      zf-C2H2; Zinc finger, C2H2 type

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      64571756..64578927, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      58563537..58570711, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL133417.11 CAH73827.2
    genomic CH471083.1 EAW54238.1
      EAW54239.1
    genomic CQ834156.1 CAH05293.1
    genomic CQ834160.1 CAH05295.1
    genomic HI574260.1 CBX47619.1
    genomic X53700.1 None
    mRNA AF139463.1 AAD24588.1
    mRNA AK091399.1 BAG52349.1
    mRNA AK296830.1 BAG59400.1
    mRNA AK312813.1 BAG35671.1
    mRNA BC035625.1 AAH35625.1
    mRNA CD370447.1 None
    mRNA CR749641.1 CAH18435.1
    mRNA DA581108.1 None
    mRNA DB242561.1 None
    mRNA J04076.1 AAA52372.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11161.3 GenPept UniProtKB/Swiss-Prot:P11161
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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