EED (Embryonic Ectoderm Development) Gene
A core component of the Polycomb Repressive Complex 2 (PRC2) involved in transcriptional repression and developmental regulation.
Gene Information Card
| Symbol | EED |
|---|---|
| Full Name | Embryonic Ectoderm Development |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.2 |
| NCBI Gene ID | 8726 ncbi.nlm.nih.gov/gene/8726 |
| Ensembl ID | ENSG00000074211 |
| UniProt ID | O75530 |
| OMIM ID | 605984 |
| HGNC ID | 3189 |
| Aliases | WAIT1, HEED |
Description
The EED gene encodes a core component of the Polycomb Repressive Complex 2 (PRC2). PRC2 catalyzes the trimethylation of histone H3 at lysine 27 (H3K27me3), a repressive histone mark essential for maintaining gene silencing during development, X-chromosome inactivation, and genomic imprinting. EED directly binds to the histone mark and allosterically activates the methyltransferase activity of EZH2. Mutations in EED are associated with Weaver syndrome and various cancers, including myeloid malignancies and lymphomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Weaver syndrome | Heterozygous missense mutations in EED reduce PRC2 catalytic activity, leading to altered H3K27me3 levels and overgrowth phenotypes. | OMIM #617279; ClinVar |
| Myelodysplastic syndrome / Acute myeloid leukemia | Somatic loss-of-function mutations (frameshift, nonsense) in EED impair PRC2 function, contributing to leukemogenesis. | COSMIC; PMID: 24614146 |
| Follicular lymphoma | Recurrent inactivating mutations in EED (e.g., Y244*) disrupt PRC2 activity and promote lymphomagenesis. | COSMIC; PMID: 24362881 |
| Malignant peripheral nerve sheath tumors | EED deletions or mutations lead to loss of H3K27me3, a diagnostic marker. | ClinVar; PMID: 24728327 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.2 | Medium |
| Brain (cerebellum) | 15.8 | Medium |
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Pancreas | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.5 | Medium |
| HeLa (cervical) | 15.2 | Medium |
| HEK293 (embryonic kidney) | 14.0 | Medium |
| HepG2 (liver) | 9.8 | Low |
| A549 (lung) | 11.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.730C>T (p.Arg244*) | Nonsense | <1% | Loss of function; truncated protein lacking WD40 repeats |
| c.1135G>A (p.Gly379Arg) | Missense | <0.1% | Dominant negative; reduced PRC2 activity in Weaver syndrome |
| c.1A>G (p.Met1?) | Start loss | <0.1% | Loss of function; no protein expression |
| c.1417_1418del (p.Glu473fs) | Frameshift | <0.1% | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Frameshift, nonsense, and start-loss mutations that truncate or abolish EED protein, impairing PRC2 complex assembly and H3K27me3 deposition.
Gain of Function (GOF)
Not reported; EED mutations are predominantly loss-of-function or dominant-negative.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly379Arg) that disrupt EED binding to histone H3K27me3, reducing PRC2 activity in a heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04110 (Cell cycle)
• hsa05202 (Transcriptional misregulation in cancer)
• hsa05206 (MicroRNAs in cancer)
• hsa05225 (Hepatocellular carcinoma)
• R-HSA-212300 (PRC2 methylates histones and DNA)
Protein Summary
EED is a 441-amino acid protein containing WD40 repeats that form a beta-propeller structure. It serves as a scaffold within PRC2, binding to the H3K27me3 mark to allosterically activate EZH2. EED also interacts with other PRC2 subunits (SUZ12, RBBP4/7). The protein is ubiquitously expressed and localizes to the nucleus. Structural studies show that the WD40 domain is critical for histone binding and complex integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EED Knockout HEK293 Cell Line | EDJ-KQ6342 | Human | 8726 | Details Get a Quote |
| EED Knockout A-549 Cell Line | EDJ-KQ30283 | Human | 8726 | Details Get a Quote |
| EED Knockout HCT 116 Cell Line | EDJ-KQ30284 | Human | 8726 | Details Get a Quote |
| EED Knockout HeLa Cell Line | EDJ-KQ30285 | Human | 8726 | Details Get a Quote |
