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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.
EN1
engrailed homeobox 1
Chromosome 2 Β· 2q14.2
NCBI Gene: 2019Ensembl: ENSG00000163064.7HGNC: HGNC:3342UniProt: Q05925
53PubMed Papers
22Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificnucleoplasmENDOVE syndrome, limb-brain typeAbnormality of the skeletal systemhair colorENDOVE syndrome, limb-only type
✦AI Summary

EN1 (engrailed homeobox 1) is a homeodomain transcription factor that functions as both a developmental regulator and aberrant oncogenic driver. During normal development, EN1 is essential for proper limb formation, specifically required for apical ectodermal ridge development and dorsal-ventral patterning [UniProt annotation]. EN1 acts as a sequence-specific DNA-binding transcription factor that regulates transcription through RNA polymerase II mechanisms and is critical for dopaminergic neuron differentiation and skeletal system development [GO annotations]. In the context of stem cell biology, EN1 serves as a key marker of authentic midbrain dopamine (mDA) neurons derived from human pluripotent stem cells; optimized differentiation protocols enhance EN1 expression to improve mDA neuron yield and quality for Parkinson's disease applications 12. EN1 also influences Hedgehog signaling by regulating Gli1 expression and primary cilia properties 3. Pathologically, EN1 is aberrantly expressed across multiple cancer types. In triple-negative breast cancer, EN1 cooperates with BRD4-S to comodulate extracellular matrix genes and cancer-associated pathways 4. EN1 functions as an oncogenic driver in pancreatic cancer, promoting metastasis through MAPK pathway activation and mesenchymal transition 5, and in glioblastoma, where elevated expression predicts poor prognosis and promotes proliferation via Hedgehog signaling 3. Additionally, non-coding variants near EN1 significantly influence bone mineral density and fracture risk 6.

Sources cited
1
EN1 expression is a midbrain marker improved by optimized WNT signaling protocols for mDA neuron derivation from hESCs
PMID: 33545081
2
Optimized mDA neuron differentiation protocols increase EN1 expression alongside PITX3 and ALDH1A1
PMID: 39829874
3
EN1 is a key BRD4-S coregulator that comodulates extracellular matrix and cancer-associated genes in triple-negative breast cancer
PMID: 32446320
4
EN1 is aberrantly expressed in pancreatic ductal adenocarcinoma and promotes metastasis through MAPK pathway activation
PMID: 38110836
5
EN1 is highly expressed in glioma tissues, controls proliferation and migration via Hedgehog signaling, and predicts poor prognosis
PMID: 35163043
6
Non-coding variants near EN1 locus have large effects on bone mineral density and fracture risk
PMID: 26367794
7
EN1 regulatory regions identified as cancer-specific epigenetic drivers in pan-cancer analysis
PMID: 37914932
Disease Associationsβ“˜22
ENDOVE syndrome, limb-brain typeOpen Targets
0.57Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
hair colorOpen Targets
0.46Moderate
ENDOVE syndrome, limb-only typeOpen Targets
0.43Moderate
seborrheic dermatitisOpen Targets
0.42Moderate
erythematosquamous dermatosisOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.35Weak
osteoporosisOpen Targets
0.31Weak
obesityOpen Targets
0.29Weak
bone diseaseOpen Targets
0.28Weak
spontaneous abortionOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
overnutritionOpen Targets
0.23Weak
bone fractureOpen Targets
0.23Weak
triple-negative breast cancerOpen Targets
0.22Weak
shoulder fractureOpen Targets
0.21Weak
estrogen-receptor negative breast cancerOpen Targets
0.19Weak
radius fractureOpen Targets
0.19Weak
ulna fractureOpen Targets
0.18Weak
ENDOVE syndrome, limb-brain typeUniProt
ENDOVE syndrome, limb-only typeUniProt
Pathogenic Variants1
NM_001426.4(EN1):c.317dup (p.Ile107fs)Pathogenic
EN1 syndrome|ENDOVE syndrome, limb-brain type
β˜†β˜†β˜†β˜†2021β†’ Residue 107
View on ClinVar β†—
Related Genes
TLE1Protein interaction92%PAX2Protein interaction84%FGF8Protein interaction80%WNT1Protein interaction77%PAX6Protein interaction73%TLE5Protein interaction70%
Tissue Expression6 tissues
Lung
100%
Brain
50%
Liver
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
EN1TLE1PAX2FGF8WNT1PAX6TLE5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q05925
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.52Intermediate
Observed/Expected LoF0.37 [0.20–0.72]
RankingsWhere EN1 stands among ~20K protein-coding genes
  • #8,422of 20,598
    Most Researched53
  • #5,079of 5,498
    Most Pathogenic Variants1
  • #5,607of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedEN1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Epigenetic regulation during cancer transitions across 11 tumour types.
PMID: 37914932
Nature Β· 2023
1.00
2
Opposing Functions of BRD4 Isoforms in Breast Cancer.
PMID: 32446320
Mol Cell Β· 2020
0.90
3
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
PMID: 31069529
J Neurol Β· 2019
0.80
4
Biphasic Activation of WNT Signaling Facilitates the Derivation of Midbrain Dopamine Neurons from hESCs for Translational Use.
PMID: 33545081
Cell Stem Cell Β· 2021
0.70
5
Engrailed-1 Promotes Pancreatic Cancer Metastasis.
PMID: 38110836
Adv Sci (Weinh) Β· 2024
0.60