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Ezh2
Gene Detail
 Symbol
Name
ID
Ezh2
enhancer of zeste homolog 2 (Drosophila)
MGI:107940
Synonyms Enx-1, Enx1h, KMT6
Feature Type protein coding gene
Genetic Map
Chromosome 6
22.92 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr6:47530274-47595341 bp, - strand
From VEGA annotation of GRCm38

  65068 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37926  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ezh2

Human
homologs
Human Homolog EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit
NCBI Gene ID 2146
neXtProt AC  NX_Q15910
Human Synonyms  ENX1, ENX-1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2
Human Chr (Location)  7q35-q36; chr7:148807372-148884349 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EZH2
Mutations,
alleles, and
phenotypes
All mutations/alleles(48) : Gene trapped(37) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants die prior to completing gastrulation. A conditional mutant with loss of expression in immune cells survives, but has defects in early B cell development and Igh rearrangement. Conditional loss of maternal protein results in severegrowth retardation of neonates.
 
Human Diseases Modeled Using Mouse Ezh2 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Ezh2 interacts with 166 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (70 annotations)
Process cellular response to hydrogen peroxide, cerebellar cortex development, ...
Component chromosome, cytoplasm, ...
Function chromatin binding, chromatin DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (45 records)
Data Summary: Results (315)    Tissues (208)    Images (17)
Theiler Stages: 2, 3, 5, 9, 11, 13, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 89
RNA in situ 82
Northern blot 24
RT-PCR 107
RNase protection 13
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(26) Genomic(2) cDNA(19) Primer pair(5)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021193 (Evidence)
Ensembl Gene ModelENSMUSG00000029687 (Evidence)
Entrez Gene14056 (Evidence)
DFCITC1574682, TC1586155, TC1615678
DoTSDT.101389801, DT.102539627, DT.535194, DT.97372109
NIA Mouse Gene IndexU027262
EC2.1.1.43
PDB2QXV
Consensus CDS ProjectCCDS20096.1, CCDS51760.1
International Mouse Knockout Project StatusEzh2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021193 VEGA Gene Model | MGI Sequence Detail 65068 C57BL/6J ±  kb
transcript OTTMUST00000050207 VEGA | MGI Sequence Detail 2652 Not Applicable 
polypeptide OTTMUSP00000023406 VEGA | MGI Sequence Detail 746 Not Applicable 

For the selected sequences
All sequences(98) RefSeq(24) UniProt(10)
Polymorphisms PCR(1) : SNPs within 2kb(254 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026489 CXC domain
InterPro IPR001005 SANT/Myb domain
InterPro IPR001214 SET domain
InterPro IPR021654 WD repeat binding protein EZH2
Protein Ontology PR:000007278 histone-lysine N-methyltransferase EZH2
References (Earliest) J:32835 Hobert O, et al., Isolation and developmental expression analysis of Enx-1, a novel mouse Polycomb group gene. Mech Dev. 1996 Apr;55(2):171-84
(Latest) J:208432 Schwarz D, et al., Ezh2 is required for neural crest-derived cartilage and bone formation. Development. 2014 Feb;141(4):867-77
All references(153)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-35129, MGD-MRK-36520, MGI:106670

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory