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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
  • Transcription Start Sites
    28 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:23639439-23709233 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 10.33 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1128 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924825
 protein coding gene Chr5:23638034-23709233 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029329
 protein coding gene Chr5:21084570-21161788 (+)
A/J MGP_AJ_G0029295
 protein coding gene Chr5:20409386-20478968 (+)
AKR/J MGP_AKRJ_G0029246
 protein coding gene Chr5:21203449-21275484 (+)
BALB/cJ MGP_BALBcJ_G0029306
 protein coding gene Chr5:20894640-20964488 (+)
C3H/HeJ MGP_C3HHeJ_G0029026
 protein coding gene Chr5:21289637-21363029 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029759
 protein coding gene Chr5:22563854-22637071 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026997
 protein coding gene Chr5:18364169-18432663 (+)
CAST/EiJ MGP_CASTEiJ_G0028438
 protein coding gene Chr5:20493243-20566568 (+)
CBA/J MGP_CBAJ_G0028993
 protein coding gene Chr5:22877363-22960010 (+)
DBA/2J MGP_DBA2J_G0029144
 protein coding gene Chr5:20670961-20740258 (+)
FVB/NJ MGP_FVBNJ_G0029102
 protein coding gene Chr5:20068046-20138312 (+)
LP/J MGP_LPJ_G0029228
 protein coding gene Chr5:21466153-21539244 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029131
 protein coding gene Chr5:24066841-24143306 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029793
 protein coding gene Chr5:20796426-20868930 (+)
PWK/PhJ MGP_PWKPhJ_G0028161
 protein coding gene Chr5:19753658-19823467 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027993
 protein coding gene Chr5:20196015-20273733 (+)
WSB/EiJ MGP_WSBEiJ_G0028518
 protein coding gene Chr5:20893173-20965686 (+)



Homology
more
  • Human Ortholog
    KMT2E, lysine methyltransferase 2E (inactive)
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KMT2E, lysine methyltransferase 2E (inactive)
  • Synonyms
    HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B
  • Links
    NCBI Gene ID: 55904
    neXtProt AC: NX_Q8IZD2
    UniProt: Q8IZD2

  • Chr Location
    7q22.3; chr7:104940943-105115019 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human KMT2E associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 3 alleles in 3 genetic backgrounds
    26 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.
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
    32
  • GO References
    7
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
membraneless 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
    816
  • Tissues
    110
  • cDNA Data
    18
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029004 Ensembl Gene Model | MGI Sequence Detail 69795 C57BL/6J ±  kb
    transcript ENSMUST00000115128 Ensembl | MGI Sequence Detail 7317 Not Applicable  
    polypeptide ENSMUSP00000110781 Ensembl | MGI Sequence Detail 1868 Not Applicable  
    For the selected sequence
    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 59
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 7
      Phenotypes 26
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:337231 Zhang X, et al., MLL5 is involved in retinal photoreceptor maturation through facilitating CRX-mediated photoreceptor gene transactivation. iScience. 2022 Apr 15;25(4):104058
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory