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Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit [ Mus musculus (house mouse) ]

Gene ID: 14056, updated on 23-Oct-2018

Summary

Official Symbol
Ezh2provided by MGI
Official Full Name
enhancer of zeste 2 polycomb repressive complex 2 subunitprovided by MGI
Primary source
MGI:MGI:107940
See related
Ensembl:ENSMUSG00000029687 Vega:OTTMUSG00000021193
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
KMT6; Enx-1; Enx1h; mKIAA4065
Expression
Biased expression in CNS E11.5 (RPKM 46.4), CNS E14 (RPKM 30.5) and 11 other tissues See more
Orthologs

Genomic context

See Ezh2 in Genome Data Viewer
Location:
6 B2.3; 6 22.92 cM
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (47530274..47595340, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (47480273..47545029, complement)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene TAR (HIV) RNA binding protein 2 pseudogene Neighboring gene cullin 1 Neighboring gene predicted gene, 40371 Neighboring gene predicted gene, 40369 Neighboring gene 4.5S RNA

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA4065, MGC90723

Gene Ontology Provided by MGI

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin DNA binding ISO
Inferred from Sequence Orthology
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding ISO
Inferred from Sequence Orthology
more info
 
histone methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
histone methyltransferase activity (H3-K27 specific) ISO
Inferred from Sequence Orthology
more info
 
histone-lysine N-methyltransferase activity ISO
Inferred from Sequence Orthology
more info
PubMed 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
primary miRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
promoter-specific chromatin binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region DNA binding ISO
Inferred from Sequence Orthology
more info
 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
G1 to G0 transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle hypertrophy in response to stress IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to trichostatin A IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebellar cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
hepatocyte homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
histone H3-K27 methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone H3-K27 methylation ISO
Inferred from Sequence Orthology
more info
 
histone H3-K27 trimethylation IGI
Inferred from Genetic Interaction
more info
PubMed 
histone methylation IDA
Inferred from Direct Assay
more info
PubMed 
histone methylation ISO
Inferred from Sequence Orthology
more info
 
liver regeneration IGI
Inferred from Genetic Interaction
more info
PubMed 
methylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epidermal cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
negative regulation of gene expression, epigenetic ISO
Inferred from Sequence Orthology
more info
 
negative regulation of retinoic acid receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
negative regulation of striated muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
negative regulation of transcription elongation from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
positive regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of MAP kinase activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cell cycle G1/S phase transition ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cell proliferation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of dendrite development ISO
Inferred from Sequence Orthology
more info
 
positive regulation of epithelial to mesenchymal transition ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
 
protein localization to chromatin IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of circadian rhythm ISO
Inferred from Sequence Orthology
more info
 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gliogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to tetrachloromethane IGI
Inferred from Genetic Interaction
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ESC/E(Z) complex IDA
Inferred from Direct Assay
more info
PubMed 
ESC/E(Z) complex ISO
Inferred from Sequence Orthology
more info
 
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
PubMed 
pronucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
histone-lysine N-methyltransferase EZH2
Names
enhancer of zeste homolog 2
NP_001140161.1
NP_031997.2
XP_006505583.1
XP_006505584.1
XP_006505586.1
XP_006505587.1
XP_006505588.1
XP_006505589.1
XP_006505590.1
XP_006505591.1
XP_006505592.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001146689.1NP_001140161.1  histone-lysine N-methyltransferase EZH2 isoform 2

    See identical proteins and their annotated locations for NP_001140161.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This difference results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK157853, AK220174, BC079538
    Consensus CDS
    CCDS51760.1
    UniProtKB/TrEMBL
    Q3TZH6, Q571L5, Q6AXH7
    Related
    ENSMUSP00000110265.1, OTTMUSP00000023408, ENSMUST00000114618.7, OTTMUST00000050209
    Conserved Domains (2) summary
    smart00317
    Location:608729
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  2. NM_007971.2NP_031997.2  histone-lysine N-methyltransferase EZH2 isoform 1

    See identical proteins and their annotated locations for NP_031997.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This isoform is also known as ENX-1A.
    Source sequence(s)
    AK157853, AK220174, BC079538
    Consensus CDS
    CCDS20096.1
    UniProtKB/Swiss-Prot
    Q61188
    UniProtKB/TrEMBL
    Q3TZH6, Q571L5, Q6AXH7
    Related
    ENSMUSP00000080419.6, OTTMUSP00000023406, ENSMUST00000081721.12, OTTMUST00000050207
    Conserved Domains (2) summary
    smart00317
    Location:612733
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

    Range
    47530274..47595340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505521.2XP_006505584.1  histone-lysine N-methyltransferase EZH2 isoform X1

    See identical proteins and their annotated locations for XP_006505584.1

    Conserved Domains (2) summary
    smart00317
    Location:617738
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  2. XM_006505526.3XP_006505589.1  histone-lysine N-methyltransferase EZH2 isoform X1

    See identical proteins and their annotated locations for XP_006505589.1

    Conserved Domains (2) summary
    smart00317
    Location:617738
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  3. XM_006505525.1XP_006505588.1  histone-lysine N-methyltransferase EZH2 isoform X4

    Conserved Domains (2) summary
    smart00317
    Location:561682
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  4. XM_006505523.1XP_006505586.1  histone-lysine N-methyltransferase EZH2 isoform X2

    Conserved Domains (2) summary
    smart00317
    Location:603724
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  5. XM_006505524.1XP_006505587.1  histone-lysine N-methyltransferase EZH2 isoform X3

    Related
    ENSMUSP00000090318.6, OTTMUSP00000050434, ENSMUST00000092648.12, OTTMUST00000091541
    Conserved Domains (2) summary
    smart00317
    Location:575696
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  6. XM_006505529.1XP_006505592.1  histone-lysine N-methyltransferase EZH2 isoform X6

    Conserved Domains (1) summary
    smart00317
    Location:375496
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  7. XM_006505527.1XP_006505590.1  histone-lysine N-methyltransferase EZH2 isoform X5

    See identical proteins and their annotated locations for XP_006505590.1

    Conserved Domains (1) summary
    smart00317
    Location:380501
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  8. XM_006505520.3XP_006505583.1  histone-lysine N-methyltransferase EZH2 isoform X1

    See identical proteins and their annotated locations for XP_006505583.1

    Conserved Domains (2) summary
    smart00317
    Location:617738
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    pfam11616
    Location:3967
    EZH2_WD-Binding; WD repeat binding protein EZH2
  9. XM_006505528.1XP_006505591.1  histone-lysine N-methyltransferase EZH2 isoform X5

    See identical proteins and their annotated locations for XP_006505591.1

    Conserved Domains (1) summary
    smart00317
    Location:380501
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
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