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GeneE
26 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.
EED
embryonic ectoderm development
Chromosome 11 Β· 11q14.2
NCBI Gene: 8726Ensembl: ENSG00000074266.24HGNC: HGNC:3188UniProt: E9PJK2
178PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingESC/E(Z) complextranscription corepressor bindingnucleoplasmCohen-Gibson syndromesmoking initiationviral diseasemelanoma
✦AI Summary

EED (Embryonic Ectoderm Development) is a core component of the Polycomb Repressive Complex 2 (PRC2), functioning as an essential epigenetic regulator. As part of the PRC2/EED-EZH2 complex, EED catalyzes histone H3 lysine-27 trimethylation (H3K27me3), a repressive chr11 mark that silences target genes including HOX genes and tumor suppressors 1. EED acts as an allosteric reader of H3K27me3, binding trimethylated histone marks to sustain PRC2 activity while also recognizing H3K27ac marks to facilitate gene activation, revealing unexpected complexity in its regulatory role 2. Mechanistically, EED contains five conserved WD-repeat motifs critical for protein folding and PRC2 complex assembly 3. Clinically, EED dysregulation is implicated in cancer development, as PRC2-mediated H3K27me3 dysregulation occurs across multiple malignancies. Targeting EED through small-molecule inhibitors and protein-protein interaction modulators represents a novel therapeutic strategy, particularly as direct EZH2 inhibition shows limited efficacy in certain cancers 4, 5. Beyond cancer, EED participates in m6A-histone modification crosstalk regulating endometrial receptivity 6, and clinical mutations in EED cause Cohen-Gibson syndrome. Notably, EED also exerts antiviral activity by negatively affecting HIV-1 assembly and release 7.

Sources cited
1
EED-EZH2 complex methylates histone H3 at lysine 27 (H3-K27), linking histone methylation to Polycomb-mediated gene silencing of HOX genes
PMID: 12351676
2
EED is a highly conserved 441-amino-acid protein with five WD motifs; mutations in these motifs disrupt protein folding and function in mammals
PMID: 9806832
3
EED is an essential core PRC2 subunit that binds H3K27me3 and regulates PRC2 function; targeting EED offers novel cancer treatment strategies
PMID: 34544341
4
EZH2-EED protein-protein interaction and EED inhibitors are emerging as indirect PRC2 modulators, relevant for cancers resistant to direct EZH2 inhibition
PMID: 34351144
5
EED interacts with Mettl3 in an m6A-histone modification regulatory axis that controls H3K27me3 modification and endometrial receptivity
PMID: 39934221
6
EED unexpectedly enhances cyclinD1 gene activation by cooperating with BRD4 at H3K27ac marks, revealing a gene-activating function alongside its canonical repressive role
PMID: 36923952
7
EED exerts antiviral activity by negatively affecting HIV-1 assembly and genomic RNA packaging, which can be reversed by HIV-1 Nef protein
PMID: 17547741
Disease Associationsβ“˜21
Cohen-Gibson syndromeOpen Targets
0.79Strong
smoking initiationOpen Targets
0.47Moderate
viral diseaseOpen Targets
0.46Moderate
melanomaOpen Targets
0.42Moderate
breast carcinomaOpen Targets
0.42Moderate
cancerOpen Targets
0.38Weak
cannabis dependenceOpen Targets
0.32Weak
smoking behaviorOpen Targets
0.32Weak
attention deficit hyperactivity disorderOpen Targets
0.32Weak
substance abuseOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.30Weak
autism spectrum disorderOpen Targets
0.27Weak
Neurodevelopmental delayOpen Targets
0.27Weak
chronic fatigue syndromeOpen Targets
0.26Weak
injuryOpen Targets
0.25Weak
generalized dystoniaOpen Targets
0.25Weak
biliary tract diseaseOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.21Weak
ovarian carcinomaOpen Targets
0.21Weak
Cohen-Gibson syndromeUniProt
Pathogenic Variants13
NM_003797.5(EED):c.581A>G (p.Asn194Ser)Pathogenic
Cohen-Gibson syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 194
NM_003797.5(EED):c.906A>C (p.Arg302Ser)Likely pathogenic
Cohen-Gibson syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 302
NM_003797.5(EED):c.710A>G (p.Asp237Gly)Likely pathogenic
Cohen-Gibson syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 237
NM_003797.5(EED):c.773A>T (p.His258Leu)Likely pathogenic
Cohen-Gibson syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 258
NM_003797.5(EED):c.282A>C (p.Gln94His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 94
NM_003797.5(EED):c.923A>G (p.Tyr308Cys)Pathogenic
Cohen-Gibson syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 308
NM_003797.5(EED):c.767T>C (p.Met256Thr)Likely pathogenic
Autism spectrum disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 256
NM_003797.5(EED):c.1133C>T (p.Ala378Val)Likely pathogenic
Cohen-Gibson syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 378
NM_003797.5(EED):c.1097T>C (p.Met366Thr)Likely pathogenic
Cohen-Gibson syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 366
NM_003797.5(EED):c.1241G>A (p.Arg414Gln)Likely pathogenic
Neurodevelopmental delay
β˜…β˜†β˜†β˜†β†’ Residue 414
NM_003797.5(EED):c.772C>T (p.His258Tyr)Pathogenic
Cohen-Gibson syndrome
β˜†β˜†β˜†β˜†2017β†’ Residue 258
NM_003797.5(EED):c.904A>G (p.Arg302Gly)Pathogenic
Cohen-Gibson syndrome
β˜†β˜†β˜†β˜†2017β†’ Residue 302
NM_003797.5(EED):c.707G>C (p.Arg236Thr)Pathogenic
Cohen-Gibson syndrome
β˜†β˜†β˜†β˜†2017β†’ Residue 236
View on ClinVar β†—
Related Genes
H2AC20Protein interaction100%H2AC18Protein interaction100%WDR73Protein interaction100%CBX8Protein interaction100%PCGF1Protein interaction99%PCGF6Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
70%
Liver
57%
Lung
52%
Heart
45%
Brain
39%
Gene Interaction Network
Click a node to explore
EEDH2AC20H2AC18WDR73CBX8PCGF1PCGF6
PROTEIN STRUCTURE
Preparing viewer…
PDB5U69 Β· 1.28 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.13–0.41]
RankingsWhere EED stands among ~20K protein-coding genes
  • #2,444of 20,598
    Most Researched178 Β· top quartile
  • #2,572of 5,498
    Most Pathogenic Variants13
  • #2,103of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedEED
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Role of histone H3 lysine 27 methylation in Polycomb-group silencing.
PMID: 12351676
Science Β· 2002
1.00
2
The murine Polycomb-group gene eed and its human orthologue: functional implications of evolutionary conservation.
PMID: 9806832
Genomics Β· 1998
0.90
3
Activation of automethylated PRC2 by dimerization on chromatin.
PMID: 39303719
Mol Cell Β· 2024
0.84
4
Embryonic Ectoderm Development (EED) as a Novel Target for Cancer Treatment.
PMID: 34544341
Curr Top Med Chem Β· 2021
0.80
5
Polycomb Repressive Complex 2 Modulation through the Development of EZH2-EED Interaction Inhibitors and EED Binders.
PMID: 34351144
J Med Chem Β· 2021
0.70