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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EGR2
early growth response 2
Chromosome 10 Β· 10q21.3
NCBI Gene: 1959Ensembl: ENSG00000122877.18HGNC: HGNC:3239UniProt: A0A8I5KYI5
132PubMed Papers
23Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription activator activity, RNA polymerase II-specificsequence-specific double-stranded DNA bindingCharcot-Marie-Tooth disease type 1DDejerine-Sottas syndromeCharcot-Marie-Tooth disease type 4ECharcot-Marie-Tooth disease type 1
✦AI Summary

EGR2 (early growth response 2) is a transcription factor with critical roles in neural development, immune regulation, and cellular differentiation. In neural tissues, EGR2 is essential for Schwann cell development and myelination, with mutations causing severe peripheral neuropathies including Charcot-Marie-Tooth disease type 1D and Dejerine-Sottas syndrome 1. The protein functions as both a transcriptional activator and an E3 SUMO-protein ligase, promoting SUMO1 conjugation to coregulators NAB1 and NAB2 to modulate its own transcriptional activity. EGR2 plays diverse physiological roles including regulation of central respiratory chemoreception in the medulla oblongata 2, maintenance of progenitor exhausted CD8+ T cell self-renewal through chr10 accessibility changes 3, and suppression of autoimmune responses by promoting inhibitory cytokine production 4. In pathological contexts, EGR2 demonstrates protective functions by directly activating GDF15 to modulate retinal microglial phenotype in autoimmune uveitis 5 and regulating cardiac hypertrophy through lncRNA control 6. Additionally, EGR2 contributes to tumor-associated Schwann cell activation and metastatic memory formation 7. These findings establish EGR2 as a multifunctional regulator with therapeutic potential across neurological, cardiovascular, and immune-related diseases.

Sources cited
1
EGR2 mutations cause demyelinating peripheral neuropathies including Charcot-Marie-Tooth disease and Dejerine-Sottas syndrome
PMID: 10716658
2
EGR2 is required for RTN development and central respiratory chemoreflex function
PMID: 35965033
3
EGR2 regulates progenitor exhausted CD8+ T cell development and self-renewal through chromatin accessibility changes
PMID: 38816618
4
EGR2 suppresses autoimmune responses by regulating T cell function and inhibitory cytokine production
PMID: 27856665
5
EGR2 directly activates GDF15 to modulate retinal microglial phenotype and protect against autoimmune uveitis
PMID: 39298490
6
EGR2-affiliated lncRNA9456 regulates cardiac hypertrophy and heart failure
PMID: 37857609
7
EGR2 is required for tumor-associated Schwann cell activation and palmitic acid-induced metastatic memory
PMID: 34759321
Disease Associationsβ“˜23
Charcot-Marie-Tooth disease type 1DOpen Targets
0.78Strong
Dejerine-Sottas syndromeOpen Targets
0.71Strong
Charcot-Marie-Tooth disease type 4EOpen Targets
0.67Moderate
Charcot-Marie-Tooth disease type 1Open Targets
0.66Moderate
Charcot-Marie-Tooth disease type 3Open Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
Charcot-Marie-Tooth diseaseOpen Targets
0.42Moderate
inflammatory bowel diseaseOpen Targets
0.38Weak
neuropathy, congenital hypomelinatingOpen Targets
0.37Weak
Ewing sarcomaOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
stomach diseaseOpen Targets
0.27Weak
HyperhidrosisOpen Targets
0.26Weak
Tip-toe gaitOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.22Weak
atopic eczemaOpen Targets
0.20Weak
actinic keratosisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
allergic rhinitisOpen Targets
0.19Weak
Charcot-Marie-Tooth disease, demyelinating, type 1DUniProt
Dejerine-Sottas syndromeUniProt
Neuropathy, congenital hypomyelinating, 1, autosomal recessiveUniProt
Pathogenic Variants18
NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys)Pathogenic
Charcot-Marie-Tooth disease, type I|not provided|Neoplasm
β˜…β˜…β˜†β˜†2026β†’ Residue 356
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)Pathogenic
Charcot-Marie-Tooth disease type 1D|Charcot-Marie-Tooth disease, type I|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 409
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)Pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type I|not provided|Charcot-Marie-Tooth disease type 1D
β˜…β˜…β˜†β˜†2025β†’ Residue 381
NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu)Pathogenic
Charcot-Marie-Tooth disease, type I|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 355
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln)Likely pathogenic
not provided|Charcot-Marie-Tooth disease, type I
β˜…β˜…β˜†β˜†2025β†’ Residue 356
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)Pathogenic
Charcot-Marie-Tooth disease, type I|not provided|not specified
β˜…β˜…β˜†β˜†2023β†’ Residue 409
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)Pathogenic
Charcot-Marie-Tooth disease type 1D|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 381
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)Pathogenic
Dejerine-sottas neuropathy, autosomal dominant|Charcot-Marie-Tooth disease type 1D|Dejerine-Sottas disease|Charcot-Marie-Tooth disease, type I|not provided|Charcot-Marie-Tooth disease
β˜…β˜…β˜†β˜†2022β†’ Residue 359
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu)Pathogenic
Charcot-Marie-Tooth disease, type I|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 381
NM_000399.5(EGR2):c.1150C>A (p.His384Asn)Likely pathogenic
Dejerine-Sottas disease
β˜…β˜†β˜†β˜†2025β†’ Residue 384
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)Pathogenic
Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 1D
β˜…β˜†β˜†β˜†2025β†’ Residue 412
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)Pathogenic
Charcot-Marie-Tooth disease type 1D|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type I
β˜…β˜†β˜†β˜†2022β†’ Residue 359
NM_000399.5(EGR2):c.1152C>A (p.His384Gln)Pathogenic
Dejerine-Sottas disease
β˜…β˜†β˜†β˜†2022β†’ Residue 384
NM_000399.5(EGR2):c.1231G>T (p.Asp411Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 411
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)Pathogenic
Dejerine-sottas neuropathy, autosomal dominant|Charcot-Marie-Tooth disease, type I|Dejerine-Sottas disease
β˜…β˜†β˜†β˜†2020β†’ Residue 412
NM_000399.5(EGR2):c.1151A>G (p.His384Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 384
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)Pathogenic
Dejerine-Sottas disease
β˜…β˜†β˜†β˜†β†’ Residue 411
NM_000399.5(EGR2):c.1154T>A (p.Leu385His)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2023β†’ Residue 385
View on ClinVar β†—
Related Genes
FOSProtein interaction100%NAB1Protein interaction99%NAB2Protein interaction99%JUNProtein interaction99%FOSBProtein interaction99%SOX10Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
15%
Heart
13%
Liver
5%
Ovary
5%
Brain
2%
Gene Interaction Network
Click a node to explore
EGR2FOSNAB1NAB2JUNFOSBSOX10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P11161
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.18 [0.09–0.40]
RankingsWhere EGR2 stands among ~20K protein-coding genes
  • #3,521of 20,598
    Most Researched132 Β· top quartile
  • #2,277of 5,498
    Most Pathogenic Variants18
  • #2,016of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedEGR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dietary palmitic acid promotes a prometastatic memory via Schwann cells.
PMID: 34759321
Nature Β· 2021
1.00
2
Astragaloside IV derivative HHQ16 ameliorates infarction-induced hypertrophy and heart failure through degradation of lncRNA4012/9456.
PMID: 37857609
Signal Transduct Target Ther Β· 2023
0.90
3
Central respiratory chemoreception.
PMID: 35965033
Handb Clin Neurol Β· 2022
0.80
4
HK-2 cell response to TGF-Ξ² highly depends on cell culture medium formulations.
PMID: 37752256
Histochem Cell Biol Β· 2024
0.70
5
Antitumor progenitor exhausted CD8
PMID: 38816618
Nat Immunol Β· 2024
0.60