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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcription factor EGR2 alleviates autoimmune uveitis via activation of GDF15 to modulate the retinal microglial phenotype.
Title: Transcription factor EGR2 alleviates autoimmune uveitis via activation of GDF15 to modulate the retinal microglial phenotype.
Early growth response protein 2 promotes partial epithelial-mesenchymal transition by phosphorylating Smad3 during renal fibrosis.
Title: Early growth response protein 2 promotes partial epithelial-mesenchymal transition by phosphorylating Smad3 during renal fibrosis.
MicroRNA-150-5P regulates Th1/Th2 cytokines expression levels by targeting EGR2 in allergic rhinitis.
Title: MicroRNA-150-5P regulates Th1/Th2 cytokines expression levels by targeting EGR2 in allergic rhinitis.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Title: EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
EGR2 drives TH17 cell pathogenicity in autoimmune neuroinflammation.
Title: EGR2 drives T(H)17 cell pathogenicity in autoimmune neuroinflammation.
Transcription factor EGR2 controls homing and pathogenicity of TH17 cells in the central nervous system.
Title: Transcription factor EGR2 controls homing and pathogenicity of T(H)17 cells in the central nervous system.
Egr2 and 3 maintain anti-tumour responses of exhausted tumour infiltrating CD8 + T cells.
Title: Egr2 and 3 maintain anti-tumour responses of exhausted tumour infiltrating CD8 + T cells.
Type I Interferon Signaling via the EGR2 Transcriptional Regulator Potentiates CAR T Cell-Intrinsic Dysfunction.
Title: Type I Interferon Signaling via the EGR2 Transcriptional Regulator Potentiates CAR T Cell-Intrinsic Dysfunction.
Temozolomide protects against the progression of glioblastoma via SOX4 downregulation by inhibiting the LINC00470-mediated transcription factor EGR2.
Title: Temozolomide protects against the progression of glioblastoma via SOX4 downregulation by inhibiting the LINC00470-mediated transcription factor EGR2.
EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.
Title: EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.

Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:193860 (e-PCR)
- UniSTS:155768

RH1580 (e-PCR)
- UniSTS:43976

EGR2_611 (e-PCR)
- UniSTS:277193

EGR2_V17 (e-PCR)
- UniSTS:277193

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

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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

EC 2.3.2.-

NP_001129649.1

EC 2.3.2.-

NP_001129650.1

EC 2.3.2.-

NP_001129651.1

EC 2.3.2.-

NP_001307966.1

EC 2.3.2.-

NP_001397860.1

EC 2.3.2.-

XP_054220940.1

EC 2.3.2.-

NCBI Reference Sequences (RefSeq)

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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

NG_008936.2 RefSeqGene

Range

105734..112904

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_239

mRNA and Protein(s)

NM_000399.5 → NP_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:368 → 436

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:342 → 364

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:340 → 364

zf-C2H2; Zinc finger, C2H2 type

pfam11928
Location:94 → 166

DUF3446; Domain of unknown function (DUF3446)
NM_001136177.3 → NP_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:368 → 436

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:342 → 364

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:340 → 364

zf-C2H2; Zinc finger, C2H2 type

pfam11928
Location:94 → 166

DUF3446; Domain of unknown function (DUF3446)
NM_001136178.2 → NP_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:368 → 436

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:342 → 364

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:340 → 364

zf-C2H2; Zinc finger, C2H2 type

pfam11928
Location:94 → 166

DUF3446; Domain of unknown function (DUF3446)
NM_001136179.3 → NP_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:318 → 386

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:292 → 314

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:290 → 314

zf-C2H2; Zinc finger, C2H2 type

pfam11928
Location:44 → 116

DUF3446; Domain of unknown function (DUF3446)
NM_001321037.2 → NP_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:318 → 386

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:292 → 314

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:290 → 314

zf-C2H2; Zinc finger, C2H2 type

pfam11928
Location:44 → 116

DUF3446; Domain of unknown function (DUF3446)
NM_001410931.1 → NP_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