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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
  • Gene Overview
    MyGene.info: KMT2D
Location & Maps
more
  • Sequence Map
    Chr15:98831672-98871204 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39533 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    KMT2D, lysine methyltransferase 2D
  • Vertebrate Orthologs
    6
  • Human Ortholog
    KMT2D, lysine methyltransferase 2D
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21
  • Links
    NCBI Gene ID: 8085
    neXtProt AC: NX_O14686

  • Chr Location
    12q13.12; chr12:49018975-49061895 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human KMT2D associations

Human Disease Mouse Models
       Kabuki Syndrome 1; KABUK1   OMIM: 147920
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    27
  • Chemically induced (other)
    1
  • Gene trapped
    20
  • Radiation induced
    2
  • Targeted
    4
  • Genomic Mutations
    3 involving Kmt2d
  • Incidental Mutations
Mice homozygous for a gene trap allele exhibit embryonic lethality around E9.5. Mice homozygous for a conditional allele activated in somatic precursor cells exhibit impaired adipogenesis and myogenesis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000043160 VEGA Gene Model | MGI Sequence Detail 39533 C57BL/6J ±  kb
transcript OTTMUST00000113241 VEGA | MGI Sequence Detail 19823 Not Applicable  
polypeptide OTTMUSP00000063382 VEGA | MGI Sequence Detail 5588 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    131 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 9
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGI:2443148, MGI:2448505
References
more
  • Summaries
    All 48
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 8
    Phenotypes 30
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:229465 Starnes LM, et al., A PTIP-PA1 subcomplex promotes transcription for IgH class switching independently from the associated MLL3/MLL4 methyltransferase complex. Genes Dev. 2016 Jan 15;30(2):149-63

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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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory