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Kmt2d
Gene Detail
Symbol

Name
ID
Kmt2d
lysine (K)-specific methyltransferase 2D
MGI:2682319
Synonyms
C430014K11Rik, Mll2, Mll4
Feature Type
protein coding gene
Genetic Map
Chromosome 15
54.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr15:98831672-98871204 bp, - strand
From VEGA annotation of GRCm38

  39533 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:86893  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 western clawed frog

HCOP human homology predictions: KMT2D
Gene Tree: Kmt2d

Human
homologs
KMT2D, lysine (K)-specific methyltransferase 2D
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 8085
neXtProt AC: NX_O14686

Human Synonyms: AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21

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

Disease Associations: (1) Diseases Associated with Human KMT2D

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Gene trapped(20) Radiation induced(1) Targeted(4)
Genomic Mutations involving Kmt2d (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Phenotype Images(2)
Interactions
Kmt2d interacts with 442 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process chromatin modification, chromatin silencing, ...
Component histone methyltransferase complex, nucleus
Function histone-lysine N-methyltransferase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (96)    Tissues (95)    Images (9)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 2
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase kmt2b, kmt2d ; ZFIN kmt2d    NEW 
Molecular
reagents
All nucleic(11) cDNA(9) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000043160 (Evidence)
Ensembl Gene Model ENSMUSG00000048154 (Evidence)
Entrez Gene 381022 (Evidence)
DFCI TC1604638, TC1590337, TC1582889
EC 2.1.1.43
Consensus CDS Project CCDS49725.2
International Mouse Phenotyping Consortium Status Kmt2d
Sequences
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 sequences
All sequences(40) RefSeq(5) UniProt(6)
Polymorphisms
SNPs within 2kb(132 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000253 Forkhead-associated (FHA) domain
InterPro IPR003889 FY-rich, C-terminal
InterPro IPR003888 FY-rich, N-terminal
InterPro IPR009071 High mobility group (HMG) box domain
InterPro IPR003616 Post-SET domain
InterPro IPR001214 SET domain
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR019787 Zinc finger, PHD-finger
InterPro IPR001965 Zinc finger, PHD-type
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000010446 histone-lysine N-methyltransferase MLL2
References
(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:207891 Lee JE, et al., H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation. Elife. 2013;2:e01503
All references(45)
Other
accession IDs
MGI:2443148, MGI:2448505

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory