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Aliases for EED Gene

Aliases for EED Gene

  • Embryonic Ectoderm Development 2 3 5
  • WD Protein Associating With Integrin Cytoplasmic Tails 1 2 3 4
  • Embryonic Ectoderm Development Protein 3 4
  • HEED 3 4
  • Polycomb Protein EED 3
  • WAIT-1 4
  • COGIS 3
  • WAIT1 3

External Ids for EED Gene

Previous GeneCards Identifiers for EED Gene

  • GC11P088282
  • GC11P087494
  • GC11P086178
  • GC11P085682
  • GC11P085633
  • GC11P085955
  • GC11P082243

Summaries for EED Gene

Entrez Gene Summary for EED Gene

  • This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EED Gene

EED (Embryonic Ectoderm Development) is a Protein Coding gene. Diseases associated with EED include Cohen-Gibson Syndrome and Weaver Syndrome. Among its related pathways are Gene Expression and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include identical protein binding and histone methyltransferase activity.

UniProtKB/Swiss-Prot for EED Gene

  • Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates Lys-9 and Lys-27 of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes Lys-26 trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 Lys-27, whereas H3 Lys-27 recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A.

Gene Wiki entry for EED Gene

Additional gene information for EED Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EED Gene

Genomics for EED Gene

GeneHancer (GH) Regulatory Elements for EED Gene

Promoters and enhancers for EED Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I086243 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 573.5 +0.5 516 3.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 EED CREBZF HIKESHI MIR6755
GH11I086171 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 50.5 -68.4 -68443 9.4 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZNF766 FOS JUNB ZNF592 MEF2D EED CREBZF PICALM RNU6-560P LOC100289518 ENSG00000254699
GH11I086060 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 26.5 -178.4 -178365 10.4 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D PICALM CREBZF EED CCDC83 SLC25A1P1
GH11I086301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 28.2 +58.0 58001 1.9 HDGF FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 HIKESHI EED CREBZF RN7SL225P
GH11I086589 Enhancer 1.4 Ensembl ENCODE dbSUPER 35.1 +349.3 349332 8.2 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A IRF4 SLC30A9 FOS DEK JUNB ME3 EED CREBZF ENSG00000279742 LOC100420680 TMEM126B CCDC89 PRSS23 GC11P086590 PIR37636
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EED on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EED gene promoter:

Genomic Locations for EED Gene

Genomic Locations for EED Gene
chr11:86,244,544-86,285,420
(GRCh38/hg38)
Size:
40,877 bases
Orientation:
Plus strand
chr11:85,955,586-85,989,855
(GRCh37/hg19)

Genomic View for EED Gene

Genes around EED on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EED Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EED Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EED Gene

Proteins for EED Gene

  • Protein details for EED Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75530-EED_HUMAN
    Recommended name:
    Polycomb protein EED
    Protein Accession:
    O75530
    Secondary Accessions:
    • A8K7V5
    • O00149
    • Q6NTH2
    • Q7LDA5
    • Q7LDG8
    • Q86VV2
    • Q9UNY7

    Protein attributes for EED Gene

    Size:
    441 amino acids
    Molecular mass:
    50198 Da
    Quaternary structure:
    • Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2, SUZ12, RBBP4 and RBBP7 and possibly AEBP2. The minimum components required for methyltransferase activity of the PRC2/EED-EZH2 complex are EED, EZH2 and SUZ12. Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with HDAC, HDAC2, histone H1 and YY1. May interact with ITGA4, ITGAE and ITGB7. Interacts with CDYL. Interacts with ARNTL/BMAL1. Interacts with KMT2A/MLL1 (By similarity).
    • (Microbial infection) May interact with the MA protein of HIV-1.
    SequenceCaution:
    • Sequence=AAC23685.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC68675.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EED Gene

    Alternative splice isoforms for EED Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EED Gene

Post-translational modifications for EED Gene

  • Methylated. Binding to histone H1 Lys-26 promotes mono-, di-, and trimethylation of internal lysines.
  • Ubiquitination at posLast=275275

Antibody Products

  • Abcam antibodies for EED
  • Santa Cruz Biotechnology (SCBT) Antibodies for EED

No data available for DME Specific Peptides for EED Gene

Domains & Families for EED Gene

Gene Families for EED Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EED Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75530

UniProtKB/Swiss-Prot:

EED_HUMAN :
  • The WD repeat domain mediates recognition of trimethylated histone peptides at the consensus sequence Ala-Arg-Lys-Ser. This is achieved through an aromatic cage encircling the methyllysine, and involving Phe-97, Tyr-148 and Tyr-365.
  • Belongs to the WD repeat ESC family.
Domain:
  • The WD repeat domain mediates recognition of trimethylated histone peptides at the consensus sequence Ala-Arg-Lys-Ser. This is achieved through an aromatic cage encircling the methyllysine, and involving Phe-97, Tyr-148 and Tyr-365.
Family:
  • Belongs to the WD repeat ESC family.
genes like me logo Genes that share domains with EED: view

Function for EED Gene

Molecular function for EED Gene

GENATLAS Biochemistry:
murine embryonic ectoderm development (eed) homolog,polycomb-group PcG, homology with Drosophila extra sex comb,ubiquitously expressed,interacting with EZH2,HDAC proteins and involved in transcriptional repression through this interaction
UniProtKB/Swiss-Prot Function:
Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates Lys-9 and Lys-27 of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes Lys-26 trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 Lys-27, whereas H3 Lys-27 recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A.
UniProtKB/Swiss-Prot Induction:
Expression is induced by E2F1, E2F2 and E2F3.

Phenotypes From GWAS Catalog for EED Gene

Gene Ontology (GO) - Molecular Function for EED Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 16357870
GO:0042054 contributes_to histone methyltransferase activity IMP,IDA 28229514
GO:0042802 identical protein binding IPI 11124122
genes like me logo Genes that share ontologies with EED: view
genes like me logo Genes that share phenotypes with EED: view

Human Phenotype Ontology for EED Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EED Gene

Localization for EED Gene

Subcellular locations from UniProtKB/Swiss-Prot for EED Gene

Nucleus. Chromosome. Note=Transiently colocalizes with XIST at inactive X chromosomes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EED gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EED Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001739 sex chromatin IEA --
GO:0005634 nucleus NAS 9584199
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with EED: view

Pathways & Interactions for EED Gene

genes like me logo Genes that share pathways with EED: view

Gene Ontology (GO) - Biological Process for EED Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006349 regulation of gene expression by genetic imprinting IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with EED: view

No data available for SIGNOR curated interactions for EED Gene

Drugs & Compounds for EED Gene

No Compound Related Data Available

Transcripts for EED Gene

Unigene Clusters for EED Gene

Embryonic ectoderm development:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EED Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: -
SP2: - -
SP3: -
SP4: - - - -
SP5: -
SP6: - - - - - - - - - -

Relevant External Links for EED Gene

GeneLoc Exon Structure for
EED
ECgene alternative splicing isoforms for
EED

Expression for EED Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EED Gene

Protein differential expression in normal tissues from HIPED for EED Gene

This gene is overexpressed in Plasma (38.2) and Testis (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EED Gene



Protein tissue co-expression partners for EED Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EED Gene:

EED

SOURCE GeneReport for Unigene cluster for EED Gene:

Hs.503510

mRNA Expression by UniProt/SwissProt for EED Gene:

O75530-EED_HUMAN
Tissue specificity: Expressed in brain, colon, heart, kidney, liver, lung, muscle, ovary, peripheral blood leukocytes, pancreas, placenta, prostate, spleen, small intestine, testis, thymus and uterus. Appears to be overexpressed in breast and colon cancer.

Evidence on tissue expression from TISSUES for EED Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Lung(4.2)
  • Spleen(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with EED: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EED Gene

Orthologs for EED Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EED Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia EED 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EED 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EED 34 33
  • 95.99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EED 34 33
  • 95.77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eed 33
  • 93.05 (n)
mouse
(Mus musculus)
Mammalia Eed 33 16 34
  • 92.59 (n)
chicken
(Gallus gallus)
Aves EED 33 34
  • 85.68 (n)
lizard
(Anolis carolinensis)
Reptilia EED 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eed 33
  • 79.82 (n)
Str.6112 33
zebrafish
(Danio rerio)
Actinopterygii eed 33 34
  • 74.55 (n)
Dr.14507 33
fruit fly
(Drosophila melanogaster)
Insecta CG5202 35
  • 58 (a)
escl 33 34
  • 57.4 (n)
esc 35 34
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea mes-6 34
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons FIE 33
  • 52.52 (n)
rice
(Oryza sativa)
Liliopsida Os08g0137100 33
  • 53.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6528 34
  • 60 (a)
OneToOne
Species where no ortholog for EED was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EED Gene

ENSEMBL:
Gene Tree for EED (if available)
TreeFam:
Gene Tree for EED (if available)

Paralogs for EED Gene

Pseudogenes.org Pseudogenes for EED Gene

genes like me logo Genes that share paralogs with EED: view

No data available for Paralogs for EED Gene

Variants for EED Gene

Sequence variations from dbSNP and Humsavar for EED Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs776126866 benign, Cohen-Gibson syndrome 86,277,075(+) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
VAR_078316 Cohen-Gibson syndrome (COGIS) [MIM:617561] p.Arg236Thr
VAR_078317 Cohen-Gibson syndrome (COGIS) [MIM:617561] p.Arg302Ser
VAR_079255 Cohen-Gibson syndrome (COGIS) [MIM:617561] p.Asn194Ser
VAR_079256 Cohen-Gibson syndrome (COGIS) [MIM:617561] p.Arg236Gly

Structural Variations from Database of Genomic Variants (DGV) for EED Gene

Variant ID Type Subtype PubMed ID
nsv832223 CNV loss 17160897
nsv513328 CNV insertion 21212237
nsv508643 CNV deletion 20534489
esv3627083 CNV gain 21293372
esv2542002 CNV insertion 19546169
esv1712509 CNV insertion 17803354

Variation tolerance for EED Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EED Gene

Human Gene Mutation Database (HGMD)
EED
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EED

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EED Gene

Disorders for EED Gene

MalaCards: The human disease database

(2) MalaCards diseases for EED Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cohen-gibson syndrome
  • cogis
weaver syndrome
  • wvs
- elite association - COSMIC cancer census association via MalaCards
Search EED in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EED_HUMAN
  • Cohen-Gibson syndrome (COGIS) [MIM:617561]: An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability. {ECO:0000269 PubMed:25787343, ECO:0000269 PubMed:27193220, ECO:0000269 PubMed:27868325, ECO:0000269 PubMed:28229514, ECO:0000269 PubMed:28475857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with EED: view

No data available for Genatlas for EED Gene

Publications for EED Gene

  1. The murine Polycomb-group gene eed and its human orthologue: functional implications of evolutionary conservation. (PMID: 9806832) Schumacher A … Magnuson T (Genomics 1998) 2 3 4 22 58
  2. The human WD repeat protein WAIT-1 specifically interacts with the cytoplasmic tails of beta7-integrins. (PMID: 9765275) Rietzler M … Holzmann B (The Journal of biological chemistry 1998) 2 3 4 22 58
  3. Substrate preferences of the EZH2 histone methyltransferase complex. (PMID: 16431907) Martin C … Zhang Y (The Journal of biological chemistry 2006) 3 4 22 58
  4. Characterization of interactions between the mammalian polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian polycomb-group protein complexes. (PMID: 9584199) Sewalt RG … Otte AP (Molecular and cellular biology 1998) 3 4 22 58
  5. Novel EED mutation in patient with Weaver syndrome. (PMID: 27868325) Cooney E … Potocki L (American journal of medical genetics. Part A 2017) 3 4 58

Products for EED Gene

Sources for EED Gene

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