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Kmt2c
Gene Detail
Symbol

Name
ID
Kmt2c
lysine (K)-specific methyltransferase 2C
MGI:2444959
Synonyms
E330008K23Rik, HALR, mKIAA1506, Mll3
Feature Type
protein coding gene
Genetic Map
Chromosome 5
12.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr5:25271798-25498783 bp, - strand
From VEGA annotation of GRCm38

  226986 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:46480  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: acute lymphoblastic leukemia protein, ALR type
Gene Tree: Kmt2c

Human
homologs
Human Homolog KMT2C, lysine (K)-specific methyltransferase 2C
NCBI Gene ID 58508
neXtProt AC  NX_Q8NEZ4
Human Synonyms  HALR, MLL3
Human Chr (Location)  7q36.1; chr7:152134925-152436005 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(38) : Gene trapped(34) Radiation induced(1) Targeted(3)
Genomic Mutations involving Kmt2c (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.
 
Phenotype Images(1)
Interactions
Kmt2c interacts with 389 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process chromatin modification, histone H3-K4 methylation, ...
Component histone methyltransferase complex, nucleus
Function DNA binding, histone-lysine N-methyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (137)    Tissues (134)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 135
RT-PCR 2
cDNA source data(20)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(21) cDNA(20) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000037000 (Evidence)
Ensembl Gene ModelENSMUSG00000038056 (Evidence)
Entrez Gene231051 (Evidence)
DFCITC1578995, TC1597950, TC1598877, TC1622597, TC1731990
DoTSDT.101736382, DT.40143191, DT.55276988, DT.91299272, DT.94254590
NIA Mouse Gene IndexU026010, U372479
EC2.1.1.43
Consensus CDS ProjectCCDS39033.1
International Mouse Knockout Project StatusKmt2c
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037000 VEGA Gene Model | MGI Sequence Detail 226986 C57BL/6J ±  kb
transcript OTTMUST00000095145 VEGA | MGI Sequence Detail 14967 Not Applicable 
polypeptide OTTMUSP00000053056 VEGA | MGI Sequence Detail 4904 Not Applicable 

For the selected sequences
All sequences(127) RefSeq(48) UniProt(11)
Polymorphisms
SNPs within 2kb(949 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017956 AT hook, DNA-binding motif
InterPro IPR003889 FY-rich, C-terminal
InterPro IPR003888 FY-rich, N-terminal
InterPro IPR009071 High mobility group (HMG) box domain
InterPro IPR000637 HMG-I/HMG-Y, DNA-binding, conserved site
InterPro IPR003616 Post-SET domain
InterPro IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol binding
InterPro IPR001214 SET domain
InterPro IPR001594 Zinc finger, DHHC-type, palmitoyltransferase
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:000010447 histone-lysine N-methyltransferase MLL3
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:210598 Chen C, et al., MLL3 is a haploinsufficient 7q tumor suppressor in acute myeloid leukemia. Cancer Cell. 2014 May 12;25(5):652-65
All references(59)

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
10/08/2014
MGI 5.20
The Jackson Laboratory