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KMT2E Gene

protein-coding   GIFtS: 43
GCID: GC07P104655

Lysine (K)-Specific Methyltransferase 2E

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lysine (K)-Specific Methyltransferase 2E1 2     NKp44L2
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
Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 52 3     EC 2.1.1.433
HDCMC04P2     Lysine N-Methyltransferase 2E3

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with KMT2E include leukemia. GO annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and enzyme binding. 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
Function: Isoform NKp44L: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and
NK-cell-mediated innate immunity




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for KMT2E
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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;
2 PDB 3D structures from and Proteopedia for KMT2E:
2LV9 (3D)        4L58 (3D)    
Secondary accessions: B6ZDE4 B6ZDM3 M4K8J3 Q6P5Y2 Q6PKG4 Q6T316 Q86TI3 Q86W12 Q86WG0 Q86WL2
Q8IV78 Q8IWR5 Q8NFF8 Q9NWE7
Alternative splicing: 8 isoforms:  Q8IZD2-1   Q8IZD2-2   Q8IZD2-3   Q8IZD2-4   Q8IZD2-5   Q8IZD2-6   Q8IZD2-7   Q8IZD2-8   
(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: 

  • 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 protein1
  • Glycosylation2 at Thr440
  • Modification sites at PhosphoSitePlus

  • See KMT2E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    KMT2E Human Recombinant Protein Products:

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    Novus Biologicals KMT2E Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for KMT2E 

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    Search eBioscience for ELISAs for KMT2E 


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

    Selected 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


    Find genes that share domains with KMT2E           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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
    Function: Isoform NKp44L: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and
    NK-cell-mediated innate immunity
    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IMP--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0019899enzyme binding IPI--
    GO:0042800histone methyltransferase activity (H3-K4 specific) IDA--
         
    Find genes that share ontologies with KMT2E           About GenesLikeMe


    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/body  hematopoietic system 
     immune system  mortality/aging  no phenotypic analysis  reproductive system  vision/eye 

    Find genes that share phenotypes with KMT2E           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KMT2E
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    miRNA
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    miRTarBase miRNAs that target KMT2E:
    hsa-mir-1301-3p (MIRT036034), hsa-mir-335-5p (MIRT017069)

    Block miRNA regulation of human, mouse, rat KMT2E using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KMT2E


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KMT2E_HUMAN, Q8IZD2: Nucleus speckle. Note=Absent from the nucleolus
    KMT2E_HUMAN, Q8IZD2: Isoform NKp44L: Cytoplasm. Cell membrane; Peripheral membrane protein

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0016607nuclear speck IEA--
    GO:0070688MLL5-L complex IDA--

    Find genes that share ontologies with KMT2E           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KMT2E About    
    See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation


    Find genes that share SuperPaths with KMT2E           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KMT2E
    Interactions:

        Search GeneGlobe Interaction Network for KMT2E

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KMT2E (Q8IZD21, 3 ENSP000002577454) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    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): Selected biological process terms (see all 11):    About this table

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

    Find genes that share ontologies with KMT2E           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected AceView cDNA sequences (see all 332):

    BF431489 BI060378 AY438698 AA513290 AA748354 AW770664 AA134289 BE044400 
    BC062583 AW082219 AA935145 BF222571 BC009061 CD672157 N51350 AA460701 
    BI870829 BF515812 AY147037 BM352851 AY211524 CA434140 AI760197 AU117643 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    KMT2E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KMT2E Protein Expression

    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. Isoform NKp44L is not
    detected on circulating cells from healthy individuals, but it is expressed on a large panel of the tumor and
    transformed cells

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KMT2E gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mll55
    Kmt2e1
    myeloid/lymphoid or mixed-lineage leukemia 55
    lysine (K)-specific methyltransferase 2E1
    88.79(n)1
    89.8(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 80.79(n)
    83.45(a)
      417712  XM_003640341.2  XP_003640389.1 
    lizard
    (Anolis carolinensis)
    Reptilia KMT2E6
    lysine (K)-specific methyltransferase 2E
    81(a)
    1 ↔ 1
    5(96423085-96482143)
    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
    --
    6(a)
    1 → many
    3L(13995227-14013248)
    worm
    (Caenorhabditis elegans)
    Secernentea set-96
    set-266
    (see all 4)
    Protein SET-26 (set-26) mRNA, complete cds
    (see all 4)
    7(a)
    7(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(4307896-4317260) WBGene00017482
    IV(16647125-16655833) WBGene00013106


    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)
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    Paralogs for KMT2E gene
    SETD52  
    3 SIMAP similar genes for KMT2E using alignment to 9 protein entries:     KMT2E_HUMAN (see all proteins):
    MLL5    ASH1L    SETD5

    Find genes that share paralogs with KMT2E           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KMT2E (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: --
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608444    OMIM disorders: --

    1 disease for KMT2E:    
    About MalaCards
    leukemia


    Find genes that share disorders with KMT2E           About GenesLikeMe


    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)
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    PubMed articles for KMT2E gene, integrated from 10 sources (see all 25):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    2. Identification of a cellular ligand for the natural cytotoxicity receptor NKp44. (PubMed id 23958951)1, 2 Baychelier F....Vieillard V. (Blood 2013)
    3. RNA interference against mixed lineage leukemia 5 resulted in cell cycle arrest. (PubMed id 18573682)1, 2 Cheng F.... Deng L.-W. (Int. J. Biochem. Cell Biol. 2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Oncogene 2002)
    6. Monosomy 7 and 7q--associated with myeloid malignancy. (PubMed id 9218106)1, 3 Johnson E. and Cotter F.E. (Blood Rev. 1997)
    7. Myelodysplastic syndromes: the pediatric point of view. (PubMed id 7672722)1, 3 Locatelli F....Severi F. (Haematologica 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. (J. Biol. Chem. 2013)
    9. Molecular basis for chromatin binding and regulation of MLL5. (PubMed id 23798402)1 Ali M....Kutateladze T.G. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    10. Altered expression of MLL methyltransferase family genes in breast cancer. (PubMed id 23754336)1 Rabello D.d.o. .A....Silva F.P. (Int. J. Oncol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 55904 HGNC: 18541 AceView: MLL5 Ensembl:ENSG00000005483 euGenes: HUgn55904
    ECgene: KMT2E Kegg: 55904 H-InvDB: KMT2E

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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