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Kmt2a Gene Detail
Summary
  • Symbol
    Kmt2a
  • Name
    lysine (K)-specific methyltransferase 2A
  • Synonyms
    All1, ALL-1, Cxxc7, HTRX1, Mll, Mll1, trithorax Drosophila
  • Feature Type
    protein coding gene
  • IDs
    MGI:96995
    NCBI Gene: 214162
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:44714652-44792594 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 24.84 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1483 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96995
 protein coding gene Chr9:44714652-44793492 (-)
129S1/SvImJ ENSMUSG00200017881
 protein coding gene Chr9:41793300-41870296 (-)
A/J ENSMUSG00195023813
 protein coding gene Chr9:41550493-41628456 (-)
AKR/J ENSMUSG00220038514
 protein coding gene Chr9:41631677-41709687 (-)
BALB/cJ ENSMUSG00180026335
 protein coding gene Chr9:41662215-41740178 (-)
C3H/HeJ ENSMUSG00175015075
 protein coding gene Chr9:41674110-41752075 (-)
C57BL/6NJ ENSMUSG00215013817
 protein coding gene Chr9:41634970-41712914 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032129
 protein coding gene Chr9:41674795-41753596 (-)
CAST/EiJ ENSTCUG00005013176
 protein coding gene Chr9:41621632-41699362 (-)
CBA/J ENSMUSG00210016556
 protein coding gene Chr9:41715356-41793317 (-)
DBA/2J ENSMUSG00185009932
 protein coding gene Chr9:41788789-41866748 (-)
FVB/NJ ENSMUSG00205037633
 protein coding gene Chr9:42031104-42109099 (-)
JF1/MsJ ENSUMUG00000018985
 protein coding gene Chr9:41833031-41910027 (-)
LP/J ENSMUSG00230038385
 protein coding gene Chr9:42083738-42160731 (-)
NOD/ShiLtJ ENSMUSG00190022883
 protein coding gene Chr9:41867753-41945715 (-)
NZO/HlLtJ ENSMUSG00225042496
 protein coding gene Chr9:42044731-42122723 (-)
PWK/PhJ ENSLUMG00010018875
 protein coding gene Chr9:41792024-41869085 (-)
SPRET/EiJ ENSMSPG00010008661
 protein coding gene Chr9:42552077-42630417 (-)
WSB/EiJ ENSIUOG00005019628
 protein coding gene Chr9:41276171-41354144 (-)



Homology
more
  • Human Ortholog
    KMT2A, lysine methyltransferase 2A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KMT2A, lysine methyltransferase 2A
  • Synonyms
    ALL-1, ALL1, CXXC7, GAS7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
  • Links
    NCBI Gene ID: 4297
    UniProt: Q03164

  • Chr Location
    11q23.3; chr11:118436456-118526832 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Kmt2a mouse models; 4 with human KMT2A associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    76 phenotypes from 13 alleles in 16 genetic backgrounds
    53 phenotypes from multigenic genotypes
    2 images
    123 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.
Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    102
  • GO References
    22
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
    780
  • Tissues
    170
  • cDNA Data
    152
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000002028 Ensembl Gene Model | MGI Sequence Detail 77943 C57BL/6J ±  kb
    transcript ENSMUST00000114689 Ensembl | MGI Sequence Detail 16470 Not Applicable  
    polypeptide ENSMUSP00000110337 Ensembl | MGI Sequence Detail 3966 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 160
      Genomic 3
      cDNA 154
      Primer pair 3
      Antibodies 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12254, MGD-MRK-1281
    References
    more
    • Summaries
      All 271
      Developmental Gene Expression 22
      Diseases 4
      Gene Ontology 22
      Phenotypes 123
    • Earliest
      J:34109 Tkachuk DC, et al., Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. Cell. 1992 Nov 13;71(4):691-700
    • Latest
      J:391243 Lian A, et al., The tumor suppressor menin is a key scaffold mediator for homologous recombination repair. Nucleic Acids Res. 2026 Aug 10;54(15)
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory