Human Gene KMT2E (uc010ljb.1) 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 chr7:104,654,637-104,730,720 Size: 76,084 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr7:104,681,400-104,730,720 Size: 49,321 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:104,654,637-104,730,720)mRNA (may differ from genome)Protein (541 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsGeneNetworkH-INV
MGIPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: O95038_HUMAN
DESCRIPTION: SubName: Full=Putative uncharacterized protein MLL5; Flags: Fragment;
SIMILARITY: Contains 1 SET domain.

-  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 -193.80460-0.421 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
  InterPro Domains: Graphical view of domain structure
IPR001214 - SET_dom
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00628 - PHD-finger
PF00856 - SET domain

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

ModBase Predicted Comparative 3D Structure on O95038
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     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046872 metal ion binding


-  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.

-  Other Names for This Gene
  Alternate Gene Symbols: BC142987, MLL5, O95038, O95038_HUMAN
UCSC ID: uc010ljb.1
RefSeq Accession: NM_182931
Protein: O95038

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC142987.1
exon count: 13CDS single in 3' UTR: no RNA size: 1899
ORF size: 1623CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2936.50frame shift in genome: no % Coverage: 99.26
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# 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.