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

Gene ID: 1959, updated on 1-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62811996..62819167, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (63670139..63677309, complement)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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 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
located_in 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

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_2024_08

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