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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

HCOP human homology predictions: KMT2A
Protein SuperFamily: protein methyltransferase, trithorax protein type
Gene Tree: Kmt2a

Human
homologs
KMT2A, lysine (K)-specific methyltransferase 2A
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4297
neXtProt AC: NX_Q03164

Human Synonyms: ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, MLL-AF9, MLL/GAS7, TET1-MLL, TRX1, WDSTS

Human Chr (Location): 11q23; chr11:118436490-118526824 (+)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Kmt2a (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(2)
Interactions
Kmt2a interacts with 556 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (14 records)
Data Summary: Results (148)    Tissues (146)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 148
cDNA source data(151)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase kmt2a ; ZFIN kmt2a    NEW 
Molecular
reagents
All nucleic(158) Genomic(3) cDNA(153) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000021055 (Evidence)
Ensembl Gene Model ENSMUSG00000002028 (Evidence)
Entrez Gene 214162 (Evidence)
UniGene 2389
DFCI TC1601045, TC1601677, TC1625385, TC1652043, TC1716680
DoTS DT.101248196, DT.493452, DT.97368145
NIA Mouse Gene Index U030785
EC 2.1.1.43
Consensus CDS Project CCDS40603.1
International Mouse Phenotyping Consortium Status Kmt2a
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(63) RefSeq(12) 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:222103 Roychoudhury J, et al., MEIS1 regulates an HLF-oxidative stress axis in MLL-fusion gene leukemia. Blood. 2015 Apr 16;125(16):2544-52
All references(118)
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
08/18/2015
MGI 6.0
The Jackson Laboratory