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Kmt2d Gene Detail
Summary
  • Symbol
    Kmt2d
  • Name
    lysine (K)-specific methyltransferase 2D
  • Synonyms
    C430014K11Rik, Mll2, Mll4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2682319
    NCBI Gene: 381022
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:98729550-98769085 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15,
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    575 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2682319
 protein coding gene Chr15:98729550-98771958 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022314
 protein coding gene Chr15:100595296-100635236 (-)
A/J MGP_AJ_G0022272
 protein coding gene Chr15:96621419-96661055 (-)
AKR/J MGP_AKRJ_G0022247
 protein coding gene Chr15:99595531-99635045 (-)
BALB/cJ MGP_BALBcJ_G0022279
 protein coding gene Chr15:96816927-96856734 (-)
C3H/HeJ MGP_C3HHeJ_G0022047
 protein coding gene Chr15:99647352-99687425 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022724
 protein coding gene Chr15:104340227-104381530 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020249
 protein coding gene Chr15:92537123-92577300 (-)
CAST/EiJ MGP_CASTEiJ_G0021570
 protein coding gene Chr15:100497498-100537876 (-)
CBA/J MGP_CBAJ_G0022016
 protein coding gene Chr15:107880696-107923612 (-)
DBA/2J MGP_DBA2J_G0022142
 protein coding gene Chr15:96069641-96109141 (-)
FVB/NJ MGP_FVBNJ_G0022122
 protein coding gene Chr15:95044200-95084593 (-)
LP/J MGP_LPJ_G0022214
 protein coding gene Chr15:100744825-100786415 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022142
 protein coding gene Chr15:111876945-111917759 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022739
 protein coding gene Chr15:99680366-99721522 (-)
PWK/PhJ MGP_PWKPhJ_G0021311
 protein coding gene Chr15:96187207-96227049 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021146
 protein coding gene Chr15:99532407-99571807 (-)
WSB/EiJ MGP_WSBEiJ_G0021620
 protein coding gene Chr15:100225588-100266540 (-)



Homology
more
  • Human Ortholog
    KMT2D, lysine methyltransferase 2D
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KMT2D, lysine methyltransferase 2D
  • Synonyms
    AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21
  • Links
    NCBI Gene ID: 8085
    neXtProt AC: NX_O14686
    UniProt: O14686

  • Chr Location
    12q13.12; chr12:49018975-49060794 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kmt2d mouse models; 8 with human KMT2D associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    91 phenotypes from 5 alleles in 12 genetic backgrounds
    8 phenotypes from multigenic genotypes
    64 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 gene trap allele exhibit embryonic lethality around E9.5. Mice homozygous for a conditional allele activated in different cell-types exhibit impaired adipogenesis, impaired myogenesis, perturbed germinal B cell development and promoteion of lymphomagenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    11
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
    871
  • Tissues
    148
  • cDNA Data
    11
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048154 Ensembl Gene Model | MGI Sequence Detail 39536 C57BL/6J ±  kb
    transcript ENSMUST00000178486 Ensembl | MGI Sequence Detail 19805 Not Applicable  
    polypeptide ENSMUSP00000135941 Ensembl | MGI Sequence Detail 5588 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 11
      Primer pair 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2443148, MGI:2448505, MGI:5704146
    References
    more
    • Summaries
      All 126
      Developmental Gene Expression 10
      Diseases 4
      Gene Ontology 11
      Phenotypes 64
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:354877 Potter SJ, et al., KMT2D regulates activation, localization, and integrin expression by T-cells. Front Immunol. 2024;15:1341745
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory