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    EGR2 early growth response 2 [ Homo sapiens (human) ]

    Gene ID: 1959, updated on 5-May-2024

    Summary

    Official Symbol
    EGR2provided by HGNC
    Official Full Name
    early growth response 2provided by HGNC
    Primary source
    HGNC:HGNC:3239
    See related
    Ensembl:ENSG00000122877 MIM:129010; AllianceGenome:HGNC:3239
    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
    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]
    Expression
    Biased expression in thyroid (RPKM 66.1), gall bladder (RPKM 19.2) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EGR2 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62811996..62819167, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (63670139..63677309, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (64571756..64578927, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64576972-64577969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3432 Neighboring gene 2-aminoethanethiol dioxygenase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3433 Neighboring gene uncharacterized LOC107984012 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:64684239-64684456 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13913 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14056 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14069 Neighboring gene MPRA-validated peak959 silencer Neighboring gene RNA, U6 small nuclear 543, pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease type 1D
    MedGen: C1843247 OMIM: 607678 GeneReviews: Not available
    Compare labs
    Charcot-Marie-Tooth disease type 4E
    MedGen: C4721436 OMIM: 605253 GeneReviews: Not available
    Compare labs
    Dejerine-Sottas disease
    MedGen: C0011195 OMIM: 145900 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2011-11-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2011-11-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    EBI GWAS Catalog
    Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
    EBI GWAS Catalog
    Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The gene expression of early growth response 2 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells PubMed
    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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14547, DKFZp686J1957

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables SUMO ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Schwann cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aorta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in brain segmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in facial nerve structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of Schwann cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein export from nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein sumoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere 3 formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere 3 structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in rhombomere 5 formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere 5 structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in rhythmic behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    E3 SUMO-protein ligase EGR2
    Names
    E3 SUMO-protein transferase ERG2
    KROX-20, Drosophila, homolog (early growth response-2)
    early growth response protein 2
    zinc finger protein Krox-20
    NP_000390.2
    NP_001129649.1
    NP_001129650.1
    NP_001129651.1
    NP_001307966.1
    NP_001397860.1
    XP_054220940.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_239

    mRNA and Protein(s)

    1. NM_000399.5NP_000390.2  E3 SUMO-protein ligase EGR2 isoform a

      See identical proteins and their annotated locations for NP_000390.2

      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)
      AL133417, KF459538
      Consensus CDS
      CCDS7267.1
      UniProtKB/Swiss-Prot
      B2R724, B3KRD7, P11161, Q68CZ5, Q8IV26, Q9UNA6
      Related
      ENSP00000242480.3, ENST00000242480.4
      Conserved Domains (4) summary
      COG5048
      Location:368436
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:342364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:340364
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:94166
      DUF3446; Domain of unknown function (DUF3446)
    2. NM_001136177.3NP_001129649.1  E3 SUMO-protein ligase EGR2 isoform a

      See identical proteins and their annotated locations for NP_001129649.1

      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)
      AL133417, KF459538
      Consensus CDS
      CCDS7267.1
      UniProtKB/Swiss-Prot
      B2R724, B3KRD7, P11161, Q68CZ5, Q8IV26, Q9UNA6
      Related
      ENSP00000490154.2, ENST00000637191.2
      Conserved Domains (4) summary
      COG5048
      Location:368436
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:342364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:340364
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:94166
      DUF3446; Domain of unknown function (DUF3446)
    3. NM_001136178.2NP_001129650.1  E3 SUMO-protein ligase EGR2 isoform a

      See identical proteins and their annotated locations for NP_001129650.1

      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)
      AL133417, KF459538
      Consensus CDS
      CCDS7267.1
      UniProtKB/Swiss-Prot
      B2R724, B3KRD7, P11161, Q68CZ5, Q8IV26, Q9UNA6
      Conserved Domains (4) summary
      COG5048
      Location:368436
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:342364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:340364
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:94166
      DUF3446; Domain of unknown function (DUF3446)
    4. NM_001136179.3NP_001129651.1  E3 SUMO-protein ligase EGR2 isoform b

      See identical proteins and their annotated locations for NP_001129651.1

      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. Both variants 4 and 5 encode the same isoform (b).
      Source sequence(s)
      AL133417, KF459538
      Consensus CDS
      CCDS44409.1
      UniProtKB/Swiss-Prot
      P11161
      Related
      ENSP00000387634.1, ENST00000411732.4
      Conserved Domains (4) summary
      COG5048
      Location:318386
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:292314
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:290314
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:44116
      DUF3446; Domain of unknown function (DUF3446)
    5. NM_001321037.2NP_001307966.1  E3 SUMO-protein ligase EGR2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL133417, KF459538
      Consensus CDS
      CCDS44409.1
      UniProtKB/Swiss-Prot
      P11161
      Conserved Domains (4) summary
      COG5048
      Location:318386
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:292314
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:290314
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:44116
      DUF3446; Domain of unknown function (DUF3446)
    6. NM_001410931.1NP_001397860.1  E3 SUMO-protein ligase EGR2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL133417, KF459538
      Consensus CDS
      CCDS91248.1
      UniProtKB/TrEMBL
      A0A8I5KYI5
      Related
      ENSP00000509830.1, ENST00000691610.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      62811996..62819167 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      63670139..63677309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364965.1XP_054220940.1  E3 SUMO-protein ligase EGR2 isoform X1