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    Egr2 early growth response 2 [ Mus musculus (house mouse) ]

    Gene ID: 13654, updated on 13-Apr-2024

    Summary

    Official Symbol
    Egr2provided by MGI
    Official Full Name
    early growth response 2provided by MGI
    Primary source
    MGI:MGI:95296
    See related
    Ensembl:ENSMUSG00000037868 AllianceGenome:MGI:95296
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Egr-2; Zfp-6; Krox20; NGF1-B; Zfp-25; Krox-20
    Summary
    Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and SUMO ligase activity. Involved in several processes, including nervous system development; positive regulation of myelination; and protein sumoylation. Acts upstream of or within several processes, including nervous system development; regulation of ossification; and skeletal muscle cell differentiation. Located in cytoplasm and nucleus. Is expressed in several structures, including genitourinary system; head mesenchyme derived from neural crest; nervous system; neural ectoderm; and vibrissa. Used to study Charcot-Marie-Tooth disease type 4E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1D; Charcot-Marie-Tooth disease type 3; Charcot-Marie-Tooth disease type 4E; and motor peripheral neuropathy. Orthologous to human EGR2 (early growth response 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in genital fat pad adult (RPKM 22.3), thymus adult (RPKM 4.2) and 14 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Egr2 in Genome Data Viewer
    Location:
    10 B5.1; 10 34.96 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (67370334..67383354)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (67534469..67542188)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:66966471-66966714 Neighboring gene predicted gene, 32255 Neighboring gene predicted gene, 40679 Neighboring gene predicted gene, 32176 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:66999990-67000173 Neighboring gene STARR-positive B cell enhancer ABC_E6867 Neighboring gene 2-aminoethanethiol dioxygenase Neighboring gene RIKEN cDNA 4930563J15 gene Neighboring gene predicted gene, 32364 Neighboring gene STARR-positive B cell enhancer ABC_E8341 Neighboring gene predicted gene, 32515

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (13)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    E3 SUMO-protein ligase EGR2
    Names
    E3 SUMO-protein transferase ERG2
    early growth response protein 2
    zinc finger protein Krox-20
    NP_001334387.1
    NP_001360912.1
    NP_001360914.1
    NP_001360915.1
    NP_001360916.1
    NP_034248.2
    XP_030100730.1

    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.

    mRNA and Protein(s)

    1. NM_001347458.1NP_001334387.1  E3 SUMO-protein ligase EGR2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK155585, BP753840, BY209001
      Consensus CDS
      CCDS83706.1
      UniProtKB/TrEMBL
      D3Z3K7
      Conserved Domains (4) summary
      COG5048
      Location:315371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:289311
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:287311
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:44116
      DUF3446; Domain of unknown function (DUF3446)
    2. NM_001373983.1NP_001360912.1  E3 SUMO-protein ligase EGR2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC153379
      UniProtKB/TrEMBL
      D3Z3K7
      Conserved Domains (4) summary
      COG5048
      Location:378434
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:352374
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:350374
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:107179
      DUF3446; Domain of unknown function (DUF3446)
    3. NM_001373985.1NP_001360914.1  E3 SUMO-protein ligase EGR2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153379
      Consensus CDS
      CCDS83706.1
      UniProtKB/TrEMBL
      D3Z3K7
      Conserved Domains (4) summary
      COG5048
      Location:315371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:289311
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:287311
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:44116
      DUF3446; Domain of unknown function (DUF3446)
    4. NM_001373986.1NP_001360915.1  E3 SUMO-protein ligase EGR2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153379
      Consensus CDS
      CCDS83706.1
      UniProtKB/TrEMBL
      D3Z3K7
      Conserved Domains (4) summary
      COG5048
      Location:315371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:289311
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:287311
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:44116
      DUF3446; Domain of unknown function (DUF3446)
    5. NM_001373987.1NP_001360916.1  E3 SUMO-protein ligase EGR2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC153379
      Consensus CDS
      CCDS83706.1
      UniProtKB/TrEMBL
      D3Z3K7
      Related
      ENSMUSP00000101078.3, ENSMUST00000105438.9
      Conserved Domains (4) summary
      COG5048
      Location:315371
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:289311
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:287311
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:44116
      DUF3446; Domain of unknown function (DUF3446)
    6. NM_010118.3NP_034248.2  E3 SUMO-protein ligase EGR2 isoform 1

      See identical proteins and their annotated locations for NP_034248.2

      Status: VALIDATED

      Source sequence(s)
      AK155585, BY742929, X06746
      Consensus CDS
      CCDS35927.2
      UniProtKB/Swiss-Prot
      P08152
      UniProtKB/TrEMBL
      D3Z3K7, Q3U207
      Related
      ENSMUSP00000041053.8, ENSMUST00000048289.14
      Conserved Domains (5) summary
      COG5048
      Location:365421
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:339361
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:337361
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:94166
      DUF3446; Domain of unknown function (DUF3446)
      pfam13465
      Location:381406
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      67370334..67383354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244870.2XP_030100730.1  E3 SUMO-protein ligase EGR2 isoform X1

      UniProtKB/TrEMBL
      D3Z3K7
      Conserved Domains (4) summary
      COG5048
      Location:378434
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:352374
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:350374
      zf-C2H2; Zinc finger, C2H2 type
      pfam11928
      Location:107179
      DUF3446; Domain of unknown function (DUF3446)