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Kmt2a
Gene Detail
 Symbol
Name
ID
Kmt2a
lysine (K)-specific methyltransferase 2A
MGI:96995
Synonyms All1, ALL-1, Cxxc7, HTRX1, Mll, Mll1, trithorax Drosophila
Feature Type protein coding gene
Genetic Map
Chromosome 9
24.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr9:44803355-44881296 bp, - strand
From VEGA annotation of GRCm38

  77942 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4338  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: protein methyltransferase, trithorax protein type
Gene Tree: Kmt2a

Human
homologs
Human Homolog KMT2A, lysine (K)-specific methyltransferase 2A
NCBI Gene ID 4297
neXtProt AC  NX_Q03164
Human Synonyms  ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, MLL/GAS7, TET1-MLL, TRX1, WDSTS
Human Chr (Location)  11q23; chr11:118436490-118526824 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human KMT2A
Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Gene trapped(8) Targeted(22)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Kmt2a (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(2)
Interactions
Kmt2a interacts with 557 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process anterior/posterior pattern specification, chromatin modification, ...
Component cytoplasm, histone methyltransferase complex, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (148)    Tissues (146)    Images (8)
Theiler Stages: 17, 21, 22, 23, 24, 26, 27, 28
Assay TypeResults
RNA in situ 148
cDNA source data(151)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(158) Genomic(3) cDNA(153) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000021055 (Evidence)
Ensembl Gene ModelENSMUSG00000002028 (Evidence)
Entrez Gene214162 (Evidence)
UniGene2389
DFCITC1601045, TC1601677, TC1625385, TC1652043, TC1716680
DoTSDT.101248196, DT.493452, DT.97368145
NIA Mouse Gene IndexU030785
EC2.1.1.43
Consensus CDS ProjectCCDS40603.1
International Mouse Knockout Project StatusKmt2a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021055 VEGA Gene Model | MGI Sequence Detail 77942 C57BL/6J ±  kb
transcript OTTMUST00000049805 VEGA | MGI Sequence Detail 16470 Not Applicable 
polypeptide OTTMUSP00000023134 VEGA | MGI Sequence Detail 3966 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(8) UniProt(6)
Polymorphisms RFLP(1) : SNPs within 2kb(571 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017956 AT hook, DNA-binding motif
InterPro IPR001487 Bromodomain
InterPro IPR003889 FY-rich, C-terminal
InterPro IPR003888 FY-rich, N-terminal
InterPro IPR016569 Methyltransferase, trithorax
InterPro IPR003616 Post-SET domain
InterPro IPR001214 SET domain
InterPro IPR002857 Zinc finger, CXXC-type
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR019787 Zinc finger, PHD-finger
InterPro IPR001965 Zinc finger, PHD-type
InterPro IPR019786 Zinc finger, PHD-type, conserved site
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
Protein Ontology PR:000010445 histone-lysine N-methyltransferase HRX
References (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:205605 Ng RK, et al., Epigenetic dysregulation of leukaemic HOX code in MLL-rearranged leukaemia mouse model. J Pathol. 2014 Jan;232(1):65-74
All references(112)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-12254, MGD-MRK-1281

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory