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EZH2

GENERAL INFORMATION

Gene name

 EZH2

Gene description

 Enhancer of zeste 2 polycomb repressive complex 2 subunit

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (testis)
GTEx:Tissue enhanced (testis)
FANTOM5:Tissue enhanced (testis)

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in several tissues, most abundant in testis and lymphoid tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA029131 , CAB009589
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)

GENE INFORMATION

Gene name

 EZH2 (HGNC Symbol)

Synonyms

 ENX-1, EZH1, KMT6, KMT6A

Description

 Enhancer of zeste 2 polycomb repressive complex 2 subunit (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 7

Cytoband

 q36.1

Chromosome location (bp)

 148807383 - 148884321

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000106462 (version 83.38)

Entrez gene

 2146

UniProt

 Q15910 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15910

Antibodypedia

 EZH2 antibodies

PROTEIN BROWSER
EZH2-001
EZH2-004
EZH2-006
EZH2-007
EZH2-008
EZH2-010

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EZH2-001
ENSP00000419856
ENST00000483967
Q15910 [Direct mapping]
Histone-lysine N-methyltransferase EZH2
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0001047 [core promoter binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0016279 [protein-lysine N-methyltransferase activity]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0031490 [chromatin DNA binding]
GO:0035098 [ESC/E(Z) complex]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042054 [histone methyltransferase activity]
GO:0042752 [regulation of circadian rhythm]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046976 [histone methyltransferase activity (H3-K27 specific)]
GO:0048387 [negative regulation of retinoic acid receptor signaling pathway]
GO:0048511 [rhythmic process]
GO:0070734 [histone H3-K27 methylation]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
 737 aa
84.4 kDa 		No 0
EZH2-004
ENSP00000320147
ENST00000320356
Q15910 [Direct mapping]
Histone-lysine N-methyltransferase EZH2
A0A090N8E9 [Target identity:100%; Query identity:100%]
Enhancer of zeste homolog 2 (Drosophila)
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0000975 [regulatory region DNA binding]
GO:0001047 [core promoter binding]
GO:0001932 [regulation of protein phosphorylation]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006306 [DNA methylation]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0010467 [gene expression]
GO:0010468 [regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0014013 [regulation of gliogenesis]
GO:0014834 [skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration]
GO:0016279 [protein-lysine N-methyltransferase activity]
GO:0016571 [histone methylation]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0021695 [cerebellar cortex development]
GO:0021766 [hippocampus development]
GO:0031490 [chromatin DNA binding]
GO:0032355 [response to estradiol]
GO:0034244 [negative regulation of transcription elongation from RNA polymerase II promoter]
GO:0035098 [ESC/E(Z) complex]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042054 [histone methyltransferase activity]
GO:0042127 [regulation of cell proliferation]
GO:0042752 [regulation of circadian rhythm]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0043565 [sequence-specific DNA binding]
GO:0045120 [pronucleus]
GO:0045605 [negative regulation of epidermal cell differentiation]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046976 [histone methyltransferase activity (H3-K27 specific)]
GO:0048387 [negative regulation of retinoic acid receptor signaling pathway]
GO:0048511 [rhythmic process]
GO:0050767 [regulation of neurogenesis]
GO:0051154 [negative regulation of striated muscle cell differentiation]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0070314 [G1 to G0 transition]
GO:0070734 [histone H3-K27 methylation]
GO:0071168 [protein localization to chromatin]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
GO:1900006 [positive regulation of dendrite development]
GO:2000134 [negative regulation of G1/S transition of mitotic cell cycle]
Show all
 751 aa
86 kDa 		No 0
EZH2-006
ENSP00000417062
ENST00000478654
Q15910 [Direct mapping]
Histone-lysine N-methyltransferase EZH2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0001047 [core promoter binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0016279 [protein-lysine N-methyltransferase activity]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0031490 [chromatin DNA binding]
GO:0035098 [ESC/E(Z) complex]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042054 [histone methyltransferase activity]
GO:0042752 [regulation of circadian rhythm]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046976 [histone methyltransferase activity (H3-K27 specific)]
GO:0048387 [negative regulation of retinoic acid receptor signaling pathway]
GO:0048511 [rhythmic process]
GO:0070734 [histone H3-K27 methylation]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
 695 aa
79.6 kDa 		No 0
EZH2-007
ENSP00000419050
ENST00000476773
Q15910 [Direct mapping]
Histone-lysine N-methyltransferase EZH2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0001047 [core promoter binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0016279 [protein-lysine N-methyltransferase activity]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0031490 [chromatin DNA binding]
GO:0035098 [ESC/E(Z) complex]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042054 [histone methyltransferase activity]
GO:0042752 [regulation of circadian rhythm]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046976 [histone methyltransferase activity (H3-K27 specific)]
GO:0048387 [negative regulation of retinoic acid receptor signaling pathway]
GO:0048511 [rhythmic process]
GO:0070734 [histone H3-K27 methylation]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
 695 aa
79.6 kDa 		No 0
EZH2-008
ENSP00000419711
ENST00000460911
Q15910 [Direct mapping]
Histone-lysine N-methyltransferase EZH2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0001047 [core promoter binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0016279 [protein-lysine N-methyltransferase activity]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0031490 [chromatin DNA binding]
GO:0035098 [ESC/E(Z) complex]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042054 [histone methyltransferase activity]
GO:0042752 [regulation of circadian rhythm]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046976 [histone methyltransferase activity (H3-K27 specific)]
GO:0048387 [negative regulation of retinoic acid receptor signaling pathway]
GO:0048511 [rhythmic process]
GO:0070734 [histone H3-K27 methylation]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
 746 aa
85.4 kDa 		No 0
EZH2-010
ENSP00000223193
ENST00000350995
Q15910 [Direct mapping]
Histone-lysine N-methyltransferase EZH2
S4S3R8 [Target identity:100%; Query identity:100%]
EZH2b; Enhancer of zeste homolog 2 (Drosophila)
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0001047 [core promoter binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0016279 [protein-lysine N-methyltransferase activity]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0031490 [chromatin DNA binding]
GO:0035098 [ESC/E(Z) complex]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042054 [histone methyltransferase activity]
GO:0042752 [regulation of circadian rhythm]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046976 [histone methyltransferase activity (H3-K27 specific)]
GO:0048387 [negative regulation of retinoic acid receptor signaling pathway]
GO:0048511 [rhythmic process]
GO:0070734 [histone H3-K27 methylation]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
 707 aa
81 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.