EZH2 Gene (Protein Coding)

Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit

GC07M148807
GIFtS:
54
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 associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may pla... See more...

Aliases for EZH2 Gene

Aliases for EZH2 Gene

  • Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit 2 3 5
  • ENX-1 2 3 4
  • KMT6 2 3 4
  • Histone-Lysine N-Methyltransferase EZH2 3 4
  • Lysine N-Methyltransferase 6 3 4
  • Enhancer Of Zeste Homolog 2 3 4
  • KMT6A 2 3
  • Enhancer Of Zeste (Drosophila) Homolog 2 2
  • Enhancer Of Zeste Homolog 2 (Drosophila) 2
  • EC 2.1.1.43'); 50
  • EC 2.1.1.356 4
  • EC 2.1.1.43 50
  • EC 2.1.1 50
  • EZH2b 3
  • ENX1 3
  • WVS2 3
  • EZH2 5
  • EZH1 2
  • WVS 3

External Ids for EZH2 Gene

Previous GeneCards Identifiers for EZH2 Gene

  • GC07M146751
  • GC07M147819
  • GC07M147896
  • GC07M147942
  • GC07M148135
  • GC07M148504
  • GC07M142583

Summaries for EZH2 Gene

Entrez Gene Summary for EZH2 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 associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

CIViC Summary for EZH2 Gene

GeneCards Summary for EZH2 Gene

EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit) is a Protein Coding gene. Diseases associated with EZH2 include Weaver Syndrome and Lymphoma. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is EZH1.

UniProtKB/Swiss-Prot Summary for EZH2 Gene

  • Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. 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, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription.

Tocris Summary for EZH2 Gene

  • Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.

Gene Wiki entry for EZH2 Gene

Additional gene information for EZH2 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EZH2 Gene

Genomics for EZH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for EZH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EZH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EZH2

Top Transcription factor binding sites by QIAGEN in the EZH2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-1
  • MyoD
  • POU2F1

Genomic Locations for EZH2 Gene

Latest Assembly
chr7:148,807,374-148,884,344
(GRCh38/hg38)
Size:
76,971 bases
Orientation:
Minus strand

Previous Assembly
chr7:148,504,475-148,581,383
(GRCh37/hg19 by Entrez Gene)
Size:
76,909 bases
Orientation:
Minus strand

chr7:148,504,475-148,581,413
(GRCh37/hg19 by Ensembl)
Size:
76,939 bases
Orientation:
Minus strand

Genomic View for EZH2 Gene

Genes around EZH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EZH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EZH2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EZH2 Gene

Proteins for EZH2 Gene

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  • Protein details for EZH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15910-EZH2_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase EZH2
    Protein Accession:
    Q15910
    Secondary Accessions:
    • B2RAQ1
    • B3KS30
    • B7Z1D6
    • B7Z7L6
    • Q15755
    • Q75MG3
    • Q92857
    • Q96FI6

    Protein attributes for EZH2 Gene

    Size:
    746 amino acids
    Molecular mass:
    85363 Da
    Quaternary structure:
    • Binds ATRX via the SET domain (Probable). 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. 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 HDAC1 and HDAC2. Interacts with PRAME. Interacts with CDYL. Interacts with CLOCK, ARNTL/BMAL1 and CRY1 (By similarity). Interacts with DNMT3L; the interaction is direct (By similarity). Interacts with EZHIP; the interaction blocks EZH2 methyltransferase activity (PubMed:30923826, PubMed:31086175, PubMed:31451685).
    SequenceCaution:
    • Sequence=AAS07448.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EZH2 Gene

    Alternative splice isoforms for EZH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EZH2 Gene

Protein Expression for EZH2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for EZH2 Gene

Q15910:
  • DYRYSQADALKYVGIERE
  • SSSEANSRCQTP
  • VKSEYMRLRQLKR
  • CQNRFPGCRCK
  • VSCKNCSIQRG
  • HCRKIQLKKD
  • NYDGKVHG
  • KSEKGPVCWR
  • KDTDSDRE
  • TFIEELI
  • EELKEKYKELTEQQLPGALPPECTPNIDG
  • TPPRKKK
  • SSNHVYNY
  • GDHRIGIFAKRAIQ
  • CFKYDCFLHPFHATPN
  • ATPNTYKRKN
  • KKHLLLAPSDVAGWG
  • SFLFNLN
  • GEELFFDY
  • ELKEKYKE
  • QVIPLKTL
  • QNFCEKFC
  • QCNTKQCPCYLAVRECDPDLCLTCGA
  • VSSLRGTREC
  • TKTCRQVYEF
  • ISQDEADRRGKVYDKYM
  • ERTEILNQEWKQRRIQPVHI
  • PNCYAKV

Post-translational modifications for EZH2 Gene

  • Phosphorylated by AKT1. Phosphorylation by AKT1 reduces methyltransferase activity. Phosphorylation at Thr-345 by CDK1 and CDK2 promotes maintenance of H3K27me3 levels at EZH2-target loci, thus leading to epigenetic gene silencing.
  • Sumoylated.
  • Glycosylated: O-GlcNAcylation at Ser-75 by OGT increases stability of EZH2 and facilitates the formation of H3K27me3 by the PRC2/EED-EZH2 complex.
  • Glycosylation at Ser75
  • Ubiquitination at Lys61 and Lys569
  • Modification sites at PhosphoSitePlus

Other Protein References for EZH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for EZH2 Gene

Gene Families for EZH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for EZH2 Gene

InterPro:
Blocks:
  • Nuclear protein SET

Suggested Antigen Peptide Sequences for EZH2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52824, highly similar to Enhancer of zeste homolog 2 (B7Z8L6_HUMAN)
  • Lysine N-methyltransferase 6 (EZH2_HUMAN)
  • Histone-lysine N-methyltransferase (F2YMM1_HUMAN)
  • EZH2 protein (Q6R125_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15910

UniProtKB/Swiss-Prot:

EZH2_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
genes like me logo Genes that share domains with EZH2: view

Function for EZH2 Gene

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  6. Cell Lines for research

Molecular function for EZH2 Gene

UniProtKB/Swiss-Prot Function:
Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. 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, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60292, Rhea:RHEA-COMP:15535, Rhea:RHEA-COMP:15548, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.356; Evidence={ECO:0000269|PubMed:22323599};.
UniProtKB/Swiss-Prot Induction:
Expression is induced by E2F1, E2F2 and E2F3. Expression is reduced in cells subject to numerous types of stress including UV-, IR- and bleomycin-induced DNA damage and by activation of p53/TP53.
GENATLAS Biochemistry:
Drosophila enhancer of zeste homolog 2,polycomb group,PcG

Enzyme Numbers (IUBMB) for EZH2 Gene

Phenotypes From GWAS Catalog for EZH2 Gene

Gene Ontology (GO) - Molecular Function for EZH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001226 RNA polymerase II transcription corepressor binding IPI 29628311
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with EZH2: view
genes like me logo Genes that share phenotypes with EZH2: view

Human Phenotype Ontology for EZH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EZH2 Gene

MGI Knock Outs for EZH2:
  • Ezh2 Ezh2<tm1a(EUCOMM)Wtsi>
  • Ezh2 Ezh2<tm1Jnw>
  • Ezh2 Ezh2<tm2.1Sho>
  • Ezh2 Ezh2<tm1.1Sho>
  • Ezh2 Ezh2<tm1.1Tara>

Animal Models for research

  • Taconic Biosciences Mouse Models for EZH2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EZH2

Clone products for research

  • Addgene plasmids for EZH2

No data available for Transcription Factor Targets and HOMER Transcription for EZH2 Gene

Localization for EZH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EZH2 Gene

Nucleus.

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 EZH2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EZH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IGI 9214638
GO:0000785 chromatin IDA 19734898
GO:0005634 nucleus IDA 19144645
GO:0005654 nucleoplasm TAS --
GO:0005677 chromatin silencing complex IEA --
genes like me logo Genes that share ontologies with EZH2: view

Pathways & Interactions for EZH2 Gene

genes like me logo Genes that share pathways with EZH2: view

SIGNOR curated interactions for EZH2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EZH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 20154697
GO:0001932 regulation of protein phosphorylation IEA --
GO:0006306 DNA methylation IEA --
GO:0006325 chromatin organization TAS --
GO:0006348 chromatin silencing at telomere IGI 9214638
genes like me logo Genes that share ontologies with EZH2: view

Drugs & Compounds for EZH2 Gene

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(17) Drugs for EZH2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tazemetostat Approved, Investigational Pharma Target, inhibitor 0
Lysine Approved Nutra 187
s-adenosylhomocysteine Experimental Pharma 0
CPI-1205 Investigational Pharma Target, inhibitor 0
EI1 Pharma EZH2 inhibitor 0

(3) Additional Compounds for EZH2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3

(11) ApexBio Compounds for EZH2 Gene

Compound Action Cas Number
3-Deazaneplanocin A (DZNep) hydrochloride SAHH and ENZ2 inhibitor 120964-45-6
3-Deazaneplanocin,DZNep Cell-permeable histone methyltransferase inhibitor 102052-95-9
CPI-169 EZH2 inhibitor 1450655-76-1
EI1 EZH2 inhibitor 1418308-27-6
EPZ005687 EZH2 inhibitor,potent and selective 1396772-26-1
EPZ-6438 EZH2 inhibitor,potent and selective 1403254-99-8
GSK126 EZH2 inhibitor 1346574-57-9
GSK343 EZH2 inhibitor,potent,selective and cell permeable 1346704-33-3
GSK503 EZH2 inhibitor 1346572-63-1
UNC 2400 negative control of UNC1999 1433200-49-7
UNC1999 EZH2 inhibitor 1431612-23-5
genes like me logo Genes that share compounds with EZH2: view

Drug products for research

Transcripts for EZH2 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for EZH2 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EZH2

Clone products for research

  • Addgene plasmids for EZH2

Alternative Splicing Database (ASD) splice patterns (SP) for EZH2 Gene

No ASD Table

Relevant External Links for EZH2 Gene

GeneLoc Exon Structure for
EZH2

Expression for EZH2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EZH2 Gene

mRNA expression in normal human tissues for EZH2 Gene
mRNA expression by GTEx for EZH2 GenemRNA expression by BioGPS for EZH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EZH2 Gene

This gene is overexpressed in Testis (x5.1).

Protein differential expression in normal tissues from HIPED for EZH2 Gene

This gene is overexpressed in Lung (41.3) and Serum (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EZH2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EZH2

SOURCE GeneReport for Unigene cluster for EZH2 Gene:

Hs.444082

mRNA Expression by UniProt/SwissProt for EZH2 Gene:

Q15910-EZH2_HUMAN
Tissue specificity: In the ovary, expressed in primordial follicles and oocytes and also in external follicle cells (at protein level) (PubMed:31451685). Expressed in many tissues (PubMed:14532106). Overexpressed in numerous tumor types including carcinomas of the breast, colon, larynx, lymphoma and testis (PubMed:14532106).

Evidence on tissue expression from TISSUES for EZH2 Gene

  • Nervous system(4.7)
  • Pancreas(4.4)
  • Bone marrow(3)
  • Blood(3)
  • Lymph node(3)
  • Skin(3)
  • Intestine(2.9)
  • Liver(2.6)
  • Lung(2.4)
  • Muscle(2.4)
  • Kidney(2.3)
  • Spleen(2.3)
  • Heart(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EZH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with EZH2: view

No data available for Protein tissue co-expression partners for EZH2 Gene

Orthologs for EZH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EZH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia EZH2 29 30
  • 99.82 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 99 (a)
 OneToMany
-- 30
  • 95 (a)
 OneToMany
-- 30
  • 94 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia EZH2 30
  • 96 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ezh2 29
  • 92.85 (n)
Mouse
(Mus musculus)
 Mammalia Ezh2 29 16 30
  • 92.49 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EZH2 29 30
  • 92.02 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EZH2 29 30
  • 90.01 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves EZH2 29 30
  • 85.57 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EZH2 30
  • 92 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ezh2 29
  • 80.21 (n)
Str.1297 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.19136 29
Zebrafish
(Danio rerio)
 Actinopterygii ezh2 29 30
  • 75.72 (n)
 OneToOne
Dr.3788 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9957 29
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012516 29
  • 59.71 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta E(z) 29 30 31
  • 56.56 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea mes-2 30
  • 26 (a)
 OneToMany
Barley
(Hordeum vulgare)
 Liliopsida Hv.508 29
Rice
(Oryza sativa)
 Liliopsida Os.44686 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 56 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.1039 29
Species where no ortholog for EZH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EZH2 Gene

ENSEMBL:
Gene Tree for EZH2 (if available)
TreeFam:
Gene Tree for EZH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EZH2: view image
Alliance of Genome Resources:
Additional Orthologs for EZH2

Paralogs for EZH2 Gene

Paralogs for EZH2 Gene

(3) SIMAP similar genes for EZH2 Gene using alignment to 9 proteins:

  • EZH2_HUMAN
  • B7Z8L6_HUMAN
  • E9PDH6_HUMAN
  • F2YMM1_HUMAN
  • G3XAL2_HUMAN
  • L0R855_HUMAN
  • Q6R125_HUMAN
  • Q75MP9_HUMAN
  • Q75MQ0_HUMAN

Pseudogenes.org Pseudogenes for EZH2 Gene

genes like me logo Genes that share paralogs with EZH2: view

Variants for EZH2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EZH2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1011534 Uncertain Significance: Weaver syndrome 148,827,269(-) A/G
NM_004456.5(EZH2):c.626-3T>C 		INTRON
1012109 Uncertain Significance: Weaver syndrome 148,815,519(-) T/C
NM_004456.5(EZH2):c.1533A>G (p.Ile511Met) 		MISSENSE
1015406 Uncertain Significance: Weaver syndrome 148,817,973(-) C/T
NM_004456.5(EZH2):c.1144G>A (p.Asp382Asn) 		MISSENSE
1017666 Uncertain Significance: Weaver syndrome 148,829,770(-) C/T
NM_004456.5(EZH2):c.442G>A (p.Glu148Lys) 		MISSENSE
1020041 Uncertain Significance: Weaver syndrome 148,847,178(-) A/G
NM_004456.5(EZH2):c.117+4T>C 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EZH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EZH2 Gene

Variant ID Type Subtype PubMed ID
dgv3990e59 CNV tandem duplication 20981092
esv1004063 CNV insertion 20482838
esv3361481 CNV duplication 20981092
esv3542623 CNV deletion 23714750
esv3572292 CNV loss 25503493
nsv1128373 CNV deletion 24896259
nsv522305 CNV loss 19592680
nsv831183 CNV loss 17160897

Variation tolerance for EZH2 Gene

Residual Variation Intolerance Score: 12.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EZH2 Gene

Human Gene Mutation Database (HGMD)
EZH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EZH2
Leiden Open Variation Database (LOVD)
EZH2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EZH2 Gene

Disorders for EZH2 Gene

MalaCards: The human disease database

(68) MalaCards diseases for EZH2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
weaver syndrome
  • wvs
lymphoma
  • lymphoid cancer
lymphoma, non-hodgkin, familial
  • non-hodgkin lymphoma; nhl
primary cutaneous follicle center lymphoma
  • crosti's disease
ezh2-related overgrowth
- elite association - COSMIC cancer census association via MalaCards
Search EZH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EZH2_HUMAN
  • Weaver syndrome (WVS) [MIM:277590]: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. {ECO:0000269 PubMed:22177091, ECO:0000269 PubMed:22190405, ECO:0000269 PubMed:23239504, ECO:0000269 PubMed:26694085, ECO:0000269 PubMed:28229514}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for EZH2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EZH2: view

No data available for Genatlas for EZH2 Gene

Publications for EZH2 Gene

  1. Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. (PMID: 8954776) Chen H ā€¦ Antonarakis SE (Genomics 1996) 2 3 4 22
  2. Mutations in EZH2 cause Weaver syndrome. (PMID: 22177091) Gibson WT ā€¦ Jones SJ (American journal of human genetics 2012) 3 4 72
  3. Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. (PMID: 20081860) Morin RD ā€¦ Marra MA (Nature genetics 2010) 3 4 22
  4. Genetic polymorphisms in the polycomb group gene EZH2 and the risk of lung cancer. (PMID: 19901851) Yoon KA ā€¦ Lee JS (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2010) 3 22 40
  5. The polycomb repressive complex 2 is a potential target of SUMO modifications. (PMID: 18628979) Riising EM ā€¦ Pasini D (PloS one 2008) 3 4 22

ExternalLinks

View latest publications for EZH2 gene in Mastermind

Products for EZH2 Gene

  • Addgene plasmids for EZH2

Sources for EZH2 Gene