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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
  • Gene Overview
    MyGene.info: EZH2
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:47530274-47595340 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 22.92 cM, cytoband B
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    253 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107940
protein coding gene Chr6:47530139-47595341 (-)
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
    10
  • Human Ortholog
    EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ENX1, ENX-1, EZH2b, KMT6, KMT6A, WVS, WVS2
  • Links
    NCBI Gene ID: 2146
    neXtProt AC: NX_Q15910
    UniProt: Q15910

  • Chr Location
    7q36.1; chr7:148807372-148884662 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 37926
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EZH2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ezh2 mouse models; 1 with human EZH2 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 9 alleles in 12 genetic backgrounds
    10 phenotypes from multigenic genotypes
    112 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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 severegrowth retardation of neonates. Conditional loss in oligodendrocytes affects oligodendrocyte maturation and delays subsequent myelinization of axons in the central nervous system by oligodendrocytes.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14056 NCBI Gene Model | MGI Sequence Detail 65067 C57BL/6J ±  kb
    transcript NM_007971 RefSeq | MGI Sequence Detail 2665 C57BL/6  
    polypeptide Q61188 UniProt | EBI | MGI Sequence Detail 746 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 2
      cDNA 21
      Primer pair 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-35129, MGD-MRK-36520, MGI:106670
    References
    more
    • Summaries
      All 278
      Developmental Gene Expression 80
      Diseases 1
      Gene Ontology 44
      Phenotypes 112
    • 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:265501 Kim H, et al., Ablation of Ezh2 in neural crest cells leads to aberrant enteric nervous system development in mice. PLoS One. 2018;13(8):e0203391

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory