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Kmt2e Gene Detail
Summary
  • Symbol
    Kmt2e
  • Name
    lysine (K)-specific methyltransferase 2E
  • Synonyms
    1810033J14Rik, 9530077A04Rik, D230038D11Rik, Mll5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924825
    NCBI Gene: 69188
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr5:23434441-23504235 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      69795 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 10.33 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    KMT2E, lysine methyltransferase 2E
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KMT2E, lysine methyltransferase 2E
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HDCMC04P, MLL5, NKp44L
  • Links
    NCBI Gene ID: 55904
    neXtProt AC: NX_Q8IZD2
    UniProt: Q8IZD2

  • Chr Location
    7q22.3; chr7:105014190-105114085 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 18822
    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: KMT2E
  • Gene Tree
    Kmt2e
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 3 alleles in 3 genetic backgrounds
    23 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.
Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    3
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
    110
  • Tissues
    110
  • cDNA Data
    18
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021312 VEGA Gene Model | MGI Sequence Detail 69795 C57BL/6J ±  kb
    transcript OTTMUST00000050528 VEGA | MGI Sequence Detail 7252 Not Applicable  
    polypeptide OTTMUSP00000023599 VEGA | MGI Sequence Detail 1868 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      311 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 22
      Primer pair 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1916438, MGI:1925809
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 3
      Phenotypes 23
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:239131 Tasdogan A, et al., DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization. Cell Stem Cell. 2016 Dec 01;19(6):752-767
    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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    Send questions and comments to User Support.     		last database update
    10/09/2018
    MGI 6.12     		The Jackson Laboratory