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

KMT2D Gene

protein-coding   GIFtS: 41
GCID: GC12M049413

Lysine (K)-Specific Methyltransferase 2D

(Previous names: trinucleotide repeat containing 21, myeloid/lymphoid or...)
(Previous symbols: TNRC21, MLL2)
  Search for KMT2D
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 2D1 2     CAGL1142
MLL21 2 3 5     KABUK12
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
AAD102     

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

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. An important paralog of this gene is SETD1B.

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 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 KMT2D
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14686

  • KMT2D Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KMT2D Protein Expression
    REFSEQ proteins: NP_003473.3  
    ENSEMBL proteins: 
     ENSP00000301067   ENSP00000435714   ENSP00000449455  

    Human Recombinant Protein Products for KMT2D: 
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    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:0005634nucleus NAS9247308
    GO:0035097histone methyltransferase complex IPI14992727

    KMT2D for ontologies           About GeneDecksing



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    (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

    5/10 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,
    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: 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): 5/6 molecular function terms (GO ID links to tree view) (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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    (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 KMT2D 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 KMT2D):
        Lysine degradation


    KMT2D for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KMT2D

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

    5/618 Interacting proteins for KMT2D (O146861, 2, 3 ENSP000003010674) via UniProtKB, MINT, STRING, and/or I2D (see all 618)
    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): 5/11 biological process terms (GO ID links to tree view) (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-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS9247308

    KMT2D 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 KMT2D

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
    miRNA
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    9 AceView cDNA sequences:

    BC039197 AL359940 CR749712 AF010403 NM_003482 BC040663 Y08267 AF010404 
    X85325 

    GeneLoc Exon Structure

    5/15 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™, 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

    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


    See KMT2D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KMT2D

    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KMT2D gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mll21 , 5 myeloid/lymphoid or mixed-lineage leukemia 21, 5 87.52(n)1
    90.65(a)1
      15 (54.80 cM)5
    3810221  NM_001033276.31  NP_001028448.31 
     988316725 
    chicken
    (Gallus gallus)
    Aves MLL26
    --
    --
    49(a)
    24(a)
    1 ↔ many
    1 ↔ many
    AADN03014805.1(2662-7407)
    AADN03014805.1(9026-20880)
    lizard
    (Anolis carolinensis)
    Reptilia MLL26
    Uncharacterized protein
    56(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 mll26
    myeloid/lymphoid or mixed-lineage leukemia 2
    37(a)
    1 ↔ 1
    23(27997621-28036519)
    fruit fly
    (Drosophila melanogaster)
    Insecta trr6
    trithorax-related
    22(a)
    possible ortholog
    X(1775340-1783808)
    worm
    (Caenorhabditis elegans)
    Secernentea set-166
    Protein SET-16
    23(a)
    1 → many
    III(13643918-13656785)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SET16
    Histone methyltransferase, subunit of the COMPASS ...
    9(a)
    1 → many
    VIII(346043-349285)


    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)
    About This Section
    Paralogs for KMT2D gene
    SETD1B2  KMT2C2  KMT2A2  SETD1A2  ENSG000002723332  
    4 SIMAP similar genes for KMT2D using alignment to 3 protein entries:     KMT2D_HUMAN (see all proteins):
    DKFZp686C08112    MLL2    MLL4    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) 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

    10/1182 SNPs in KMT2D are shown (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--------
    VAR_0643774
    ----see VAR_0643772 R S mis40--------
    VAR_0643734
    ----see VAR_0643732 R C mis40--------
    rs619422171,2
    F--49245340(+) GACGCA/G/TGCCCA 1 -- ds50011NA 2

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

    Structural Variations
          Database of Genomic Variants (DGV) variations for KMT2D: --
    SABiosciences Cancer Mutation 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.)
    About This Section

    KMT2D for disorders           About MalaCards
    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


  • 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)
    About This Section

    PubMed articles for KMT2D gene, integrated from 9 sources (see all 68):
    (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. (1997)
    2. MLL2 mutation spectrum in 45 patients with Kabuki syn drome. (PubMed id 21280141)1, 2 Paulussen A.D....Schrander-Stumpel C.T. (2011)
    3. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (PubMed id 20711175)1, 2 Ng S.B....Shendure J. (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. (2007)
    5. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. (PubMed id 17761849)1, 2 Lee M.G.... Shiekhattar R. (2007)
    6. Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. (PubMed id 16603732)1, 2 Mo R.... Zhu Y.-J. (2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (2003)
    9. MLL histone methylases regulate expression of HDLR-SR- B1 in presence of estrogen and control plasma cholesterol in vivo. (PubMed id 23192982)1 Ansari K.I....Mandal S.S. (2013)
    10. Unmasking Kabuki syndrome. (PubMed id 23131014)1 Bogershausen N. and Wollnik B. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8085 HGNC: 7133 AceView: MLL2 Ensembl:ENSG00000167548 euGenes: HUgn8085
    ECgene: KMT2D Kegg: 8085 H-InvDB: KMT2D

    (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 KMT2D 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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