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KMT2D Gene

protein-coding   GIFtS: 44
GCID: GC12M049413

Lysine (K)-Specific Methyltransferase 2D

(Previous names: trinucleotide repeat containing 21, myeloid/lymphoid or...)
(Previous symbols: TNRC21, MLL2)
  See related diseases
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 2D1 2     AAD102
MLL21 2 3 5     CAGL1142
ALR2 3 5     KMS2
TNRC211 2     Histone-Lysine N-Methyltransferase 2D2
Myeloid/Lymphoid Or Mixed-Lineage Leukemia 21 2     Histone-Lysine N-Methyltransferase MLL22
Trinucleotide Repeat Containing 211 2     Kabuki Make-Up Syndrome2
Lysine N-Methyltransferase 2D2 3     Kabuki Mental Retardation Syndrome2
MLL42 3     EC 2.1.1.433
ALL1-Related Protein2 3     Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 23
KABUK12 5     

External Ids:    HGNC: 71331   Entrez Gene: 80852   Ensembl: ENSG000001675487   OMIM: 6021135   UniProtKB: O146863   

Export aliases for KMT2D 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 KMT2D Gene:
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3.
The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional
regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of
Kabuki syndrome. (provided by RefSeq, Oct 2010)

GeneCards Summary for KMT2D Gene:
KMT2D (lysine (K)-specific methyltransferase 2D) is a protein-coding gene. Diseases associated with KMT2D include kmt2d-related kabuki syndrome, and kabuki syndrome 1. GO annotations related to this gene include transcription regulatory region DNA binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is EZH1.

UniProtKB/Swiss-Prot: KMT2D_HUMAN, O14686
Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag
for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by
ESR1, thereby activating transcription

Gene Wiki entry for KMT2D (MLL2) Gene


(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 KMT2D
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKMT2D promoter sequence
   Search Chromatin IP Primers for KMT2D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KMT2D


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

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

KMT2D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KMT2D gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049413:  view genomic region     (about GC identifiers)

Start:
49,412,758 bp from pter      End:
49,453,557 bp from pter
Size:
40,800 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KMT2D_HUMAN, O14686 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase 2D  
Size: 5537 amino acids; 593389 Da
Subunit: Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or
KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts
with ESR1; interaction is direct
Miscellaneous: This gene mapped to a chromosomal region involved in duplications and translocations associated
with cancer
Caution: Another protein KMT2B/MLL4, located on chromosome 19, was first named MLL2 (see AC Q9UMN6). Thus,
KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature
2 PDB 3D structures from and Proteopedia for KMT2D:
3UVK (3D)        4ERQ (3D)    
Secondary accessions: O14687
Alternative splicing: 2 isoforms:  O14686-1   O14686-3   

Explore the universe of human proteins at neXtProt for KMT2D: NX_O14686

Explore proteomics data for KMT2D at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys4465
  • Modification sites at PhosphoSitePlus

  • See KMT2D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003473.3  
    ENSEMBL proteins: 
     ENSP00000301067   ENSP00000435714   ENSP00000449455  
    Reactome Protein details: O14686

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    (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 10):
     IPR001214 SET_dom
     IPR001841 Znf_RING
     IPR003889 FYrich_C
     IPR001965 Znf_PHD
     IPR003888 FYrich_N

    Graphical View of Domain Structure for InterPro Entry O14686

    ProtoNet protein and cluster: O14686

    3 Blocks protein domains:
    IPB001214 Nuclear protein SET
    IPB001841 Zn-finger
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: KMT2D_HUMAN, O14686
    Domain: LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. TRX/MLL subfamily
    Similarity: Contains 1 FYR C-terminal domain
    Similarity: Contains 1 FYR N-terminal domain
    Similarity: Contains 5 PHD-type zinc fingers
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 4 RING-type zinc fingers
    Similarity: Contains 1 SET domain


    KMT2D 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KMT2D_HUMAN, O14686
    Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag
    for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by
    ESR1, thereby activating transcription
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS9247308
    GO:0005515protein binding IPI12482968
    GO:0008168methyltransferase activity ----
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity IEA--
         
    KMT2D for ontologies           About GeneDecksing


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    (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
    KMT2D_HUMAN, O14686: Nucleus (Probable)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9247308
    GO:0035097histone methyltransferase complex IPI14992727

    KMT2D for ontologies           About GeneDecksing


    (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 KMT2D About    
    See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for KMT2D
        deactivation of the beta-catenin transactivating complex
    formation of the beta-catenin:TCF transactivating complex


    1 Kegg Pathway  (Kegg details for KMT2D):
        Lysine degradation


    KMT2D for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KMT2D
    Interactions:

        Search GeneGlobe Interaction Network for KMT2D

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

    Selected Interacting proteins for KMT2D (O146861, 2, 3 ENSP000003010674) via UniProtKB, MINT, STRING, and/or I2D (see all 635)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBBP5Q152912, 3, ENSP000002645154MINT-7945693 I2D: score=3 STRING: ENSP00000264515
    PAXIP1Q6ZW492, 3, ENSP000003840484MINT-7945693 I2D: score=1 STRING: ENSP00000384048
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7945693 I2D: score=1 STRING: ENSP00000326261
    SMAD1Q157972, 3MINT-61996 I2D: score=3 
    SMAD9O151982, 3MINT-62079 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001555oocyte growth ISS--
    GO:0001701in utero embryonic development IEA--
    GO:0006342chromatin silencing ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS9247308

    KMT2D for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for KMT2D



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KMT2D gene: 
    NM_003482.3  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301067(uc001rta.4) ENST00000526209 ENST00000552391 ENST00000549743
    ENST00000549799 ENST00000550356 ENST00000547610
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    9 AceView cDNA sequences:

    BC039197 Y08267 AF010403 NM_003482 AL359940 BC040663 AF010404 CR749712 
    X85325 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KMT2D (see all 15)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42a · 42b
    SP1:                                                                                                              -                                 
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:                                                                                                                                                
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for KMT2D

    (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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    KMT2D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KMT2D Expression
    About this image

    KMT2D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KMT2D Protein Expression

    UniProtKB/Swiss-Prot: KMT2D_HUMAN, O14686
    Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the
    exception of the liver

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    In Situ
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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 KMT2D gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mll25
    Kmt2d1
    myeloid/lymphoid or mixed-lineage leukemia 25
    lysine (K)-specific methyltransferase 2D1
    86.93(n)1
    89.28(a)1
      15 (54.80 cM)5
    3810221  NM_001033276.31  NP_001028448.31 
     988316725 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    55(a)
    41(a)
    1 ↔ many
    1 ↔ many
    AADN03014805.1(2662-7407)
    AADN03014805.1(9026-20880)
    lizard
    (Anolis carolinensis)
    Reptilia KMT2D6
    lysine (K)-specific methyltransferase 2D
    59(a)
    1 ↔ 1
    GL343198.1(2802348-2934732)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.168612 Xenopus laevis transcribed sequence with moderate similarity more 75.37(n)    BU915398.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kmt2d6
    lysine (K)-specific methyltransferase 2D
    46(a)
    1 ↔ 1
    23(27997621-28036519) ENSDARG00000037060
    fruit fly
    (Drosophila melanogaster)
    Insecta trr6
    trithorax-related
    26(a)
    1 ↔ 1
    X(1775340-1783808)
    worm
    (Caenorhabditis elegans)
    Secernentea set-166
    Protein SET-16 (set-16) mRNA, complete cds
    27(a)
    1 ↔ 1
    III(13643918-13656785) WBGene00011729


    ENSEMBL Gene Tree for KMT2D (if available)
    TreeFam Gene Tree for KMT2D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KMT2D gene
    EZH12  SETD1B2  KMT2C2  KMT2A2  SETD1A2  EZH22  ENSG000002723332  
    3 SIMAP similar genes for KMT2D using alignment to 3 protein entries:     KMT2D_HUMAN (see all proteins):
    DKFZp686C08112    MLL2    FP13812

    KMT2D 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), 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 KMT2D (see all 1182)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638344
    Kabuki syndrome 1 (KABUK1)4--see VAR_0638342 T M mis40--------
    VAR_0638314
    Kabuki syndrome 1 (KABUK1)4--see VAR_0638312 R H mis40--------
    VAR_0638304
    Kabuki syndrome 1 (KABUK1)4--see VAR_0638302 C F mis40--------
    VAR_0643784
    Kabuki syndrome 1 (KABUK1)4--see VAR_0643782 Y C mis40--------
    VAR_0638334
    Kabuki syndrome 1 (KABUK1)4--see VAR_0638332 R L mis40--------
    VAR_0638324
    Kabuki syndrome 1 (KABUK1)4--see VAR_0638322 R H mis40--------
    VAR_0643794
    Kabuki syndrome 1 (KABUK1)4--see VAR_0643792 G D mis40--------
    rs619422171,2
    F--49245340(+) GACGCA/G/TGCCCA 1 -- ds50011NA 2
    rs778794321,2
    F--49245384(+) GAACAG/AGGTCA 1 -- ds50012Minor allele frequency- A:0.13CSA WA 120
    rs1911520621,2
    C--49245430(+) CTAGAC/TACCAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KMT2D (49412758 - 49453557 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KMT2D: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KMT2D
    DNA2.0 Custom Variant and Variant Library Synthesis for KMT2D

    (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.)
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    OMIM gene information: 602113   
    OMIM disorders: 147920  
    UniProtKB/Swiss-Prot: KMT2D_HUMAN, O14686
  • Kabuki syndrome 1 (KABUK1) [MIM:147920]: A congenital mental retardation syndrome with additional
    features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion
    of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or
    high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the
    vertebrae, hands, and hip joints, and recurrent otitis media in infancy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 16 diseases for KMT2D:    
    About MalaCards
    kmt2d-related kabuki syndrome    kabuki syndrome 1    kabuki syndrome    leukemia
    spinocerebellar ataxia    hepatoblastoma    fanconi's anemia    medulloblastoma
    mental retardation    acute leukemia    non-hodgkin lymphoma    hodgkin's lymphoma
    ataxia    multiple myeloma    myeloma    breast cancer


    KMT2D for disorders           About GeneDecksing


    Export disorders for KMT2D 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 KMT2D gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with KMT2D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. (PubMed id 9247308)1, 2, 3, 9 Prasad R....Canaani E. (Oncogene 1997)
    2. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. (PubMed id 21280141)1, 2 Paulussen A.D.... Schrander-Stumpel C.T. (Hum. Mutat. 2011)
    3. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (PubMed id 20711175)1, 2 Ng S.B....Shendure J. (Nat. Genet. 2010)
    4. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. (PubMed id 17500065)1, 2 Cho Y.-W.... Ge K. (J. Biol. Chem. 2007)
    5. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. (PubMed id 17761849)1, 2 Lee M.G.... Shiekhattar R. (Science 2007)
    6. Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. (PubMed id 16603732)1, 2 Mo R.... Zhu Y.-J. (J. Biol. Chem. 2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. (PubMed id 12482968)1, 2 Goo Y.-H....Lee J.W. (Mol. Cell. Biol. 2003)
    9. Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients. (PubMed id 24323028)1 Kim Y....Park K. (J. Clin. Oncol. 2014)
    10. MLL2 and KDM6A mutations in patients with Kabuki syndrome. (PubMed id 23913813)1 Miyake N....Niikawa N. (Am. J. Med. Genet. A 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: 8085 HGNC: 7133 AceView: MLL2 Ensembl:ENSG00000167548 euGenes: HUgn8085
    ECgene: KMT2D Kegg: 8085 H-InvDB: KMT2D

    (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 KMT2D 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 KMT2D gene:
    Search GeneIP for patents involving KMT2D

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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