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Ezh2 Gene Detail
Summary
  • Symbol
    Ezh2
  • Name
    enhancer of zeste 2 polycomb repressive complex 2 subunit
  • Synonyms
    Enx-1, Enx1h, KMT6
  • Feature Type
    protein coding gene
  • IDs
    MGI:107940
    NCBI Gene: 14056
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:47507073-47572275 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 22.92 cM, cytoband B
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    254 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107940
 protein coding gene Chr6:47507073-47613843 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030682
 protein coding gene Chr6:46425182-46495020 (-)
A/J MGP_AJ_G0030654
 protein coding gene Chr6:44277492-44347433 (-)
AKR/J MGP_AKRJ_G0030579
 protein coding gene Chr6:45797344-45869850 (-)
BALB/cJ MGP_BALBcJ_G0030664
 protein coding gene Chr6:44629261-44694405 (-)
C3H/HeJ MGP_C3HHeJ_G0030377
 protein coding gene Chr6:45848724-45917960 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031119
 protein coding gene Chr6:47542479-47626591 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028325
 protein coding gene Chr6:41999117-42062671 (-)
CAST/EiJ MGP_CASTEiJ_G0029781
 protein coding gene Chr6:45698406-45762328 (-)
CBA/J MGP_CBAJ_G0030352
 protein coding gene Chr6:49447082-49519006 (-)
DBA/2J MGP_DBA2J_G0030501
 protein coding gene Chr6:44223625-44288314 (-)
FVB/NJ MGP_FVBNJ_G0030453
 protein coding gene Chr6:43858870-43923288 (-)
LP/J MGP_LPJ_G0030585
 protein coding gene Chr6:46329760-46395323 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030487
 protein coding gene Chr6:52337000-52409519 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031148
 protein coding gene Chr6:45742938-45809594 (-)
PWK/PhJ MGP_PWKPhJ_G0029493
 protein coding gene Chr6:43854723-43921225 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029329
 protein coding gene Chr6:45270903-45339254 (-)
WSB/EiJ MGP_WSBEiJ_G0029857
 protein coding gene Chr6:45720816-45786610 (-)



Homology
more
  • Human Ortholog
    EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit
  • Synonyms
    ENX1, ENX-1, EZH2b, KMT6, KMT6A, WVS, WVS2
  • Links
    NCBI Gene ID: 2146
    neXtProt AC: NX_Q15910
    UniProt: Q15910

  • Chr Location
    7q36.1; chr7:148807257-148884321 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ezh2 mouse models; 18 with human EZH2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 3 models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    79 phenotypes from 12 alleles in 16 genetic backgrounds
    15 phenotypes from multigenic genotypes
    215 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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 severe growth retardation of neonates. Conditional loss in oligodendrocytes affects their maturation and delays subsequent myelinization of axons in the central nervous system by oligodendrocytes. Homozygosity for a catalytically defective mutant is embryonic lethal, while heterozygosity affects bone formation and leads to increased body weight in females.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    133
  • GO References
    59
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1148
  • Tissues
    254
  • cDNA Data
    17
  • Literature Summary
    113
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029687 Ensembl Gene Model | MGI Sequence Detail 65203 C57BL/6J ±  kb
    transcript ENSMUST00000081721 Ensembl | MGI Sequence Detail 2787 Not Applicable  
    polypeptide ENSMUSP00000080419 Ensembl | MGI Sequence Detail 746 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      Genomic 2
      cDNA 22
      Primer pair 13

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-35129, MGD-MRK-36520, MGI:106670
    References
    more
    • Summaries
      All 429
      Developmental Gene Expression 113
      Diseases 4
      Gene Ontology 59
      Phenotypes 215
    • 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:346895 Guo P, et al., A methylation-phosphorylation switch controls EZH2 stability and hematopoiesis. Elife. 2024 Feb 12;13
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory