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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KMT2E Gene

protein-coding   GIFtS: 40
GCID: GC07P104655

Lysine (K)-Specific Methyltransferase 2E

(Previous names: myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax...)
(Previous symbol: MLL5)
  Search for KMT2E
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Lysine (K)-Specific Methyltransferase 2E1 2     HDCMC04P2
MLL51 2 3 5     Histone-Lysine N-Methyltransferase 2E2
Myeloid/Lymphoid Or Mixed-Lineage Leukemia 5 (Trithorax Homolog,
Drosophila)1 2
     Histone-Lysine N-Methyltransferase MLL52
Lysine N-Methyltransferase 2E2 3     EC 2.1.1.433
Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 52 3     

External Ids:    HGNC: 185411   Entrez Gene: 559042   Ensembl: ENSG000000054837   OMIM: 6084445   UniProtKB: Q8IZD23   

Export aliases for KMT2E gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KMT2E Gene:
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)

GeneCards Summary for KMT2E Gene: 
KMT2E (lysine (K)-specific methyltransferase 2E) is a protein-coding gene. An important paralog of this gene is SETD5.

UniProtKB/Swiss-Prot: KMT2E_HUMAN, Q8IZD2
Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and
H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Key
regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic
stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation. Plays an essential role in
retinoic-acid-induced granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters.
Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at
multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain
expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while
knockdown induces cell cycle arrest at both the G1 and G2/M phases




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KMT2E
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 9): KMT2E promoter sequence
   Search SABiosciences Chromatin IP Primers for KMT2E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KMT2E


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q22.1

KMT2E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KMT2E gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P104655:  view genomic region     (about GC identifiers)

Start:
104,654,626 bp from pter      End:
104,754,808 bp from pter
Size:
100,183 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 104,015,330-104,115,205     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KMT2E_HUMAN, Q8IZD2 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase 2E  
Size: 1858 amino acids; 204965 Da
Subunit: Component of the MLL5-L complex, at least composed of KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1,
ACTB and OGT. Interacts with RARA
Subcellular location: Nucleus speckle. Note=Absent from the nucleolus
Sequence caution: Sequence=AAH01296.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence starting in position 492; Sequence=AAH40004.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Potential poly-A sequence starting in position 227; Sequence=AAH53906.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 227;
Sequence=AAI42988.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence
starting in position 492;
1 PDB 3D structure from and Proteopedia for KMT2E:
2LV9 (3D)    
Secondary accessions: B6ZDE4 B6ZDM3 Q6P5Y2 Q6PKG4 Q6T316 Q86TI3 Q86W12 Q86WG0 Q86WL2 Q8IV78
Q8IWR5 Q8NFF8 Q9NWE7
Alternative splicing: 7 isoforms:  Q8IZD2-1   Q8IZD2-2   Q8IZD2-3   Q8IZD2-4   Q8IZD2-5   Q8IZD2-6   Q8IZD2-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KMT2E: NX_Q8IZD2

Explore proteomics data for KMT2E at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylation at Thr-440 in the SET domain by OGT is essential for the histone methyltransferase and the
    coactivator activity toward RARA in granulopoiesis. The absence of Thr-440 glycosylation in assays done in vitro
    may explain why some authors did not detected any histone methyltransferase activity for this protein
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZD2

  • KMT2E Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KMT2E Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_061152.3  NP_891847.1  

    ENSEMBL proteins: 
     ENSP00000312379   ENSP00000335398   ENSP00000419883   ENSP00000420415   ENSP00000417888  
     ENSP00000420206   ENSP00000417193   ENSP00000473963   ENSP00000419525   ENSP00000417156  
     ENSP00000335599   ENSP00000257745   ENSP00000333986  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016607nuclear speck IEA--
    GO:0070688MLL5-L complex IDA19377461

    KMT2E for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    PHF: Zinc fingers, PHD-type

    5/6 InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q8IZD2

    ProtoNet protein and cluster: Q8IZD2

    1 Blocks protein domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: KMT2E_HUMAN, Q8IZD2
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. TRX/MLL subfamily
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 SET domain


    KMT2E for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KMT2E_HUMAN, Q8IZD2
    Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and
    H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Key
    regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic
    stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation. Plays an essential role in
    retinoic-acid-induced granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters.
    Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at
    multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain
    expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while
    knockdown induces cell cycle arrest at both the G1 and G2/M phases
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IMP19377461
    GO:0005515protein binding IPI19377461
    GO:0008270zinc ion binding IEA--
    GO:0019899enzyme binding IPI19377461
    GO:0042800histone methyltransferase activity (H3-K4 specific) IDA19377461
         
    KMT2E for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KMT2E:
     Cell division defect  Increased 8N DNA content 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mll5):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size  hematopoietic system 
     immune system  mortality/aging  no phenotypic analysis  reproductive system  vision/eye 

    KMT2E for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KMT2E: Kmt2etm1Nik Kmt2etm1.1Hjf Kmt2etm1Apa

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KMT2E 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KMT2E


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KMT2E About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for KMT2E):
        Lysine degradation


    KMT2E for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KMT2E

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/16 Interacting proteins for KMT2E (Q8IZD21, 3 ENSP000002577454) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 3, ENSP000002693054EBI-2689959,EBI-366083 I2D: score=2 STRING: ENSP00000269305
    OGTO152941, ENSP000003628244EBI-2689959,EBI-539828 STRING: ENSP00000362824
    RARAP102761, ENSP000002540664EBI-2689959,EBI-413374 STRING: ENSP00000254066
    CDK1P064933I2D: score=1 
    MYBP102423I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002446neutrophil mediated immunity ISS--
    GO:0006306DNA methylation ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007050cell cycle arrest IEA--
    GO:0030218erythrocyte differentiation ISS--

    KMT2E for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KMT2E

    Search CenterWatch for drugs/clinical trials and news about KMT2E

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KMT2E gene (3 alternative transcripts): 
    NM_018682.3  NM_182931.2  NM_032187.1  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311117(uc003vcm.3 uc010ljc.3) ENST00000334884(uc010lje.1 uc010ljg.3)
    ENST00000478990 ENST00000480368 ENST00000495267 ENST00000476671(uc003vcl.3 uc003vco.1 uc010ljd.1)
    ENST00000474203 ENST00000482560 ENST00000485619 ENST00000468607 ENST00000496191
    ENST00000479838 ENST00000478079 ENST00000473063 ENST00000334877(uc010ljh.1)
    ENST00000257745(uc010ljf.1) ENST00000334914(uc010lja.1 uc010ljb.1)

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    24/332 AceView cDNA sequences (see all 332):

    CD678360 AI359982 AA995980 AA935145 BU784925 BF431489 AY438698 BI060378 
    BQ669579 NM_182931 AI197821 AA972166 AI204939 AI760197 AI073901 T52739 
    AY211524 BM352851 BF890749 AA458938 AY195569 AW770664 Z39065 AI271833 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for KMT2E (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^
    SP1:                                                  -     -                 -                                   -                                             
    SP2:                                                                                                                                                            
    SP3:                                            -     -     -                 -                                   -                                             
    SP4:                                      -     -     -     -     -           -                                   -                                             
    SP5:                                -     -     -     -     -                 -                                   -                                             

    ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                                                                                                        
    SP2:                                                                    -     -                                             
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for KMT2E

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KMT2E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KMT2E Expression
    About this image


    See KMT2E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KMT2E

    UniProtKB/Swiss-Prot: KMT2E_HUMAN, Q8IZD2
    Tissue specificity: Widely expressed in both adult and fetal tissues. Highest levels of expression observed in
    fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KMT2E

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KMT2E gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mll51 , 5 myeloid/lymphoid or mixed-lineage leukemia 51, 5 88.88(n)1
    89.85(a)1
      5 (10.33 cM)5
    691881  NM_026984.11  NP_081260.11 
     234344415 
    chicken
    (Gallus gallus)
    Aves MLL51 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax more 80.9(n)
    83.67(a)
      417712  XM_003640341.1  XP_003640389.1 
    lizard
    (Anolis carolinensis)
    Reptilia MLL56
    SETD56
    Uncharacterized protein
    82(a)
    29(a)
    1 ↔ 1
    possible ortholog
    5(96423085-96482143)
    2(190718553-190783194)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.47492 Transcribed sequence with weak similarity to protein more 79.2(n)    BQ388536.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc74b022 wufc74b02 78.7(n)   325395  BC057445.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90076
    --
    8(a)
    1 → many
    3L(13995227-14013248)
    worm
    (Caenorhabditis elegans)
    Secernentea set-96
    set-266
    (see all 4)
    Protein SET-26
    (see all 4)
    7(a)
    7(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(4307759-4317260)
    IV(16647125-16655833)


    ENSEMBL Gene Tree for KMT2E (if available)
    TreeFam Gene Tree for KMT2E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KMT2E gene
    SETD52  
    4 SIMAP similar genes for KMT2E using alignment to 8 protein entries:     KMT2E_HUMAN (see all proteins):
    NKp44L    MLL5    ASH1L    SETD5

    KMT2E for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2093 SNPs in KMT2E are shown (see all 2093)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387008441,2
    Cuntested1104717412(+) TAGGGC/TTCAGC 4 G syn10--------
    rs1856327531,2
    --104656691(+) ATGCCA/GTTATA 2 -- int10--------
    rs782539271,2
    C,F--104656745(+) ATTTTC/TAAAGT 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1157561021,2
    F--104656777(+) GAAGCT/CTCATG 2 -- int11Minor allele frequency- C:0.01WA 118
    rs1402462581,2
    C--104656819(+) TCATC-/ATTATGTA 2 -- int10--------
    rs1400566591,2
    --104656840(+) GTAAGG/TCTCCG 2 -- int10--------
    rs1140210101,2
    C,F--104657072(+) GTAGTG/AGGAGT 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1902423591,2
    --104657118(+) GGGCCA/GTTAAT 2 -- int10--------
    rs1824646131,2
    --104657214(+) ACACTA/GTTTCA 2 -- int10--------
    rs1865390471,2
    --104657217(+) CTGTTC/TCATGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for KMT2E (104654626 - 104754808 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KMT2E: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KMT2E
    DNA2.0 Custom Variant and Variant Library Synthesis for KMT2E

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KMT2E for disorders           About MalaCards
    OMIM gene information: 608444    OMIM disorders: --


    KMT2E for disorders           About GeneDecksing


    Export disorders for KMT2E gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KMT2E gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with KMT2E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression. (PubMed id 14718661)1, 2, 9 Deng L.-W.... Strominger J.L. (2004)
    2. GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis. (PubMed id 19377461)1, 2 Fujiki R.... Kato S. (2009)
    3. RNA interference against mixed lineage leukemia 5 resulted in cell cycle arrest. (PubMed id 18573682)1, 2 Cheng F.... Deng L.-W. (2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia. (PubMed id 12101424)1, 2 Emerling B.M.... Shannon K.M. (2002)
    6. Monosomy 7 and 7q--associated with myeloid malignancy. (PubMed id 9218106)1, 3 Johnson E. and Cotter F.E. (1997)
    7. Myelodysplastic syndromes: the pediatric point of view. (PubMed id 7672722)1, 3 Locatelli F....Severi F. (1995)
    8. Mixed lineage leukemia 5 (MLL5) protein regulates cell cycle progression and E2F1-responsive gene expression via association with host cell factor-1 (HCF-1). (PubMed id 23629655)1 Zhou P....Zhang Y. (2013)
    9. MLL5 maintains genomic integrity by regulating the sta bility of the chromosomal passenger complex through a functional interaction wit h Borealin. (PubMed id 22797924)1 Liu J....Deng L.W. (2012)
    10. Prognostic importance of histone methyltransferase ML L5 expression in acute myeloid leukemia. (PubMed id 21205756)1 Damm F....Heuser M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55904 HGNC: 18541 AceView: MLL5 Ensembl:ENSG00000005483 euGenes: HUgn55904
    ECgene: KMT2E Kegg: 55904 H-InvDB: KMT2E

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KMT2E Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KMT2E gene:
    Search GeneIP for patents involving KMT2E

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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