Human Gene KMT2E (uc003vcl.3) Description and Page Index
  Description: Homo sapiens lysine (K)-specific methyltransferase 2E (KMT2E), transcript variant 1, mRNA.
RefSeq Summary (NM_182931): This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr7:104,654,637-104,732,057 Size: 77,421 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr7:104,681,400-104,731,869 Size: 50,470 Coding Exon Count: 13 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:104,654,637-104,732,057)mRNA (may differ from genome)Protein (609 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVMGIOMIMPubMedReactomeStanford SOURCE
UniProtKB

-  MalaCards Disease Associations
  MalaCards Gene Search: KMT2E
Diseases sorted by gene-association score: myeloid/lymphoid or mixed lineage leukemia (15)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.99 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 653.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -212.80534-0.399 Picture PostScript Text
3' UTR -34.00188-0.181 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00628 - PHD-finger
PF00856 - SET domain

SCOP Domains:
82199 - SET domain
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q8IZD2-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AY147037 - Homo sapiens MLL5 (MLL5) mRNA, complete cds; alternatively spliced.
BC062583 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:5203790), complete cds.
BC001296 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:3454696), partial cds.
BC142987 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:8860433), partial cds.
AK000940 - Homo sapiens cDNA FLJ10078 fis, clone HEMBA1001869.
AF519459 - Homo sapiens MLL5 (MLL5) mRNA, complete cds.
BC040848 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:4540092), with apparent retained intron.
KJ904819 - Synthetic construct Homo sapiens clone ccsbBroadEn_14213 MLL5 gene, encodes complete protein.
HQ258549 - Synthetic construct Homo sapiens clone IMAGE:100072978 Unknown protein gene, encodes complete protein.
JQ809698 - Homo sapiens NKp44L (NKp44L) mRNA, partial cds.
AY157990 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (MLL5) mRNA, complete cds, alternatively spliced.
BC024658 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:4500486).
AF067804 - Homo sapiens HDCMC04P mRNA, complete cds.
BC016382 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:4689131).
AY211525 - Homo sapiens MLL5 (MLL5) mRNA, partial cds; alternatively spliced.
BC053906 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:6503661), partial cds.
BC009061 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:3873896), with apparent retained intron.
BC040004 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila), mRNA (cDNA clone IMAGE:5404572), partial cds.
JD467634 - Sequence 448658 from Patent EP1572962.
JD227705 - Sequence 208729 from Patent EP1572962.
JD500575 - Sequence 481599 from Patent EP1572962.
JD427463 - Sequence 408487 from Patent EP1572962.
JD270703 - Sequence 251727 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IZD2 (Reactome details) participates in the following event(s):

R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene
R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene
R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene
R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene
R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter
R-HSA-5159245 SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)
R-HSA-5244692 Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)
R-HSA-5637686 WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-212436 Generic Transcription Pathway
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-4839726 Chromatin organization
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: BC062583, MLL5, NM_182931, NP_891847, Q8IZD2-3
UCSC ID: uc003vcl.3
RefSeq Accession: NM_182931
Protein: Q8IZD2-3, splice isoform of Q8IZD2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC062583.1
exon count: 15CDS single in 3' UTR: no RNA size: 2595
ORF size: 1830CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3172.00frame shift in genome: no % Coverage: 97.26
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 296# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.