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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
    gene page
  • Transcription Start Sites
    4 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
    18
  • 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 MGP_129S1SvImJ_G0034721
 protein coding gene Chr9:43332856-43412541 (-)
A/J MGP_AJ_G0034702
 protein coding gene Chr9:42114205-42193728 (-)
AKR/J MGP_AKRJ_G0034629
 protein coding gene Chr9:42988363-43067701 (-)
BALB/cJ MGP_BALBcJ_G0034693
 protein coding gene Chr9:41854559-41932511 (-)
C3H/HeJ MGP_C3HHeJ_G0034404
 protein coding gene Chr9:43438456-43517695 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035214
 protein coding gene Chr9:44611150-44689540 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032129
 protein coding gene Chr9:41674795-41753596 (-)
CAST/EiJ MGP_CASTEiJ_G0033726
 protein coding gene Chr9:43299654-43379602 (-)
CBA/J MGP_CBAJ_G0034376
 protein coding gene Chr9:46241178-46321712 (-)
DBA/2J MGP_DBA2J_G0034535
 protein coding gene Chr9:42011877-42090234 (-)
FVB/NJ MGP_FVBNJ_G0034476
 protein coding gene Chr9:41273127-41350972 (-)
LP/J MGP_LPJ_G0034616
 protein coding gene Chr9:43632849-43710757 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034520
 protein coding gene Chr9:48083758-48162106 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035235
 protein coding gene Chr9:42910525-42989231 (-)
PWK/PhJ MGP_PWKPhJ_G0033431
 protein coding gene Chr9:41897657-41975574 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033267
 protein coding gene Chr9:43205958-43283115 (-)
WSB/EiJ MGP_WSBEiJ_G0033839
 protein coding gene Chr9:42932081-43013081 (-)



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
    neXtProt AC: NX_Q03164
    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
    113 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
    77
  • GO References
    20
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
    880
  • Tissues
    165
  • 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

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12254, MGD-MRK-1281
    References
    more
    • Summaries
      All 204
      Developmental Gene Expression 22
      Diseases 4
      Gene Ontology 20
      Phenotypes 113
    • 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:354545 Dong H, et al., Targeting PRMT9-mediated arginine methylation suppresses cancer stem cell maintenance and elicits cGAS-mediated anticancer immunity. Nat Cancer. 2024 Apr;5(4):601-624
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory