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

Gene ID: 1959, updated on 3-Jan-2019

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
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
CHN1; 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

Genomic context

See EGR2 in Genome Data Viewer
Location:
10q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (62811996..62819167, complement)
105 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 aldehyde dehydrogenase 7 family member A1 pseudogene 4 Neighboring gene 2-aminoethanethiol dioxygenase Neighboring gene uncharacterized LOC107984012 Neighboring gene RNA, U6 small nuclear 543, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

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

  • Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
    Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
    Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
  • 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...
  • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
    Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
  • 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...
  • Hepatitis B, organism-specific biosystem (from KEGG)
    Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
  • 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...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14547, DKFZp686J1957

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
HMG box domain binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
SUMO ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
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 
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
 
cellular response to organic substance 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 neuron 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
protein export from nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
protein sumoylation 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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to insulin 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
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 
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)

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
    P11161
    Related
    ENSP00000242480.3, ENST00000242480.3
    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_001136177.2NP_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)
    AF139463, AK091399, CD370447, DA581108, DB242561
    Consensus CDS
    CCDS7267.1
    UniProtKB/Swiss-Prot
    P11161
    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_001136178.1NP_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)
    AF139463, AK091399, AK312813, CD370447
    Consensus CDS
    CCDS7267.1
    UniProtKB/Swiss-Prot
    P11161
    Related
    ENSP00000402040.1, ENST00000439032.4
    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)
  4. NM_001136179.2NP_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)
    AK091399, CD370447, DA581108, DB242561
    Consensus CDS
    CCDS44409.1
    UniProtKB/Swiss-Prot
    P11161
    Related
    ENSP00000387634.1, ENST00000411732.3
    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_001321037.1NP_001307966.1  E3 SUMO-protein ligase EGR2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AK091399, CD370447, DA581108, DB242561
    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)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539427.1XP_011537729.1  E3 SUMO-protein ligase EGR2 isoform X1

    Conserved Domains (5) summary
    COG5048
    Location:381449
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:355377
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:353377
    zf-C2H2; Zinc finger, C2H2 type
    pfam11928
    Location:107179
    DUF3446; Domain of unknown function (DUF3446)
    pfam13465
    Location:397422
    zf-H2C2_2; Zinc-finger double domain
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