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

MLL2 Gene

protein-coding   GIFtS: 60
GCID: GC12M049412

myeloid/lymphoid or mixed-lineage leukemia 2

(Previous name: trinucleotide repeat containing 21 )
(Previous symbol: TNRC21)
 Explore 16 diseases affiliated with
MLL2 via our new
 Human Malady Compendium 
Biological research products
for MLL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Myeloid/Lymphoid Or Mixed-Lineage Leukemia 21 2     EC 2.1.1.433 8
ALR1 2 3 5     AAD102
KMT2D1 2 3     KABUK12
MLL41 2 3     KMS2
CAGL1141 2     Histone-Lysine N-Methyltransferase MLL22
TNRC211 2     Kabuki Make-Up Syndrome2
Trinucleotide Repeat Containing 211 2     Kabuki Mental Retardation Syndrome2
Lysine N-Methyltransferase 2D2 3     Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 23
ALL1-Related Protein2 3     

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

Export aliases for MLL2 gene to outside databases

Previous GC identifers: GC12P049365 GC12M049129 GC12M047701 GC12M047699 GC12M046444


(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 MLL2:
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)

UniProtKB/Swiss-Prot: MLL2_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 MLL2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLL2 gene promoter:
         Pax-5   Pax-6   MyoD   XBP-1   Nkx2-5   GATA-1   MZF-1   PPAR-gamma1   PPAR-gamma2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MLL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLL2


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

MLL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLL2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049412:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MLL2_HUMAN, O14686 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase MLL2  
Size: 5537 amino acids; 593389 Da
Subunit: Component of the MLL2/3 complex (also named ASCOM complex), at least composed of MLL2/ALR or 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 MLL4/WBP7, located on chromosome 19, was first named MLL2 (see AC Q9UMN6). Thus, MLL4 is often
referred to as MLL2 and vice versa in the literature
2 PDB 3D structures from and Proteopedia for MLL2:
3UVK (3D)        4ERQ (3D)    
Secondary accessions: O14687
Alternative splicing: 2 isoforms:  O14686-1   O14686-3   

Explore the universe of human proteins at neXtProt for MLL2: NX_O14686

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14686

  • 4/6 DME Specific Peptides for MLL2 (O14686) (see all 6)
     TGCARSE  EELTYDY  PPPEESP  EESPLSPP 

    MLL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003473.3  
    ENSEMBL proteins: 
     ENSP00000301067   ENSP00000435714   ENSP00000449455  

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    Uscn Proteins for MLL2

    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


    MLL2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MLL2 for domains           About GeneDecksing

    5/10 InterPro domains/families (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 families:
    IPB001214 Nuclear protein SET
    IPB001841 Zn-finger
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: MLL2_HUMAN, O14686
    Domain: LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor
    Similarity: Belongs to the 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MLL2_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]

         Genatlas biochemistry entry for MLL2:
    mixed (myeloid/lymphoid) lineage leukemia 2,paralogous gene of MLL chromosome 11

    Enzyme Number (IUBMB): EC 2.1.1.431 2

    miRNA
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    hsa-miR-100* hsa-miR-146a hsa-miR-938 hsa-miR-1260b hsa-miR-134 hsa-miR-342-3p hsa-miR-759 hsa-miR-1273d
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    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 IPI17178841
    GO:0008168methyltransferase activity ----
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity IEA--


    MLL2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysine degradation
    Lysine degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for MLL2):
        Lysine degradation


    MLL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLL2

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

    5/590 Interacting proteins for MLL2 (O146861, 2, 3 ENSP000003010674) via UniProtKB, MINT, STRING, and/or I2D (see all 590)
    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


    MLL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 MLL2

    2 HMDB Compounds for MLL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Search CenterWatch for drugs/clinical trials and news about MLL2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MLL2 gene: 
    NM_003482.3  

    Unigene Cluster for MLL2:

    Myeloid/lymphoid or mixed-lineage leukemia 2
    Hs.731384  [show with all ESTs]
    Unigene Representative Sequence: NM_003482
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301067(uc001rta.4) ENST00000526209 ENST00000552391 ENST00000549743
    ENST00000549799 ENST00000550356 ENST00000547610

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    8/189 QIAGEN miScript miRNA Assays for microRNAs that regulate MLL2 (see all 189):
    hsa-miR-100* hsa-miR-146a hsa-miR-938 hsa-miR-1260b hsa-miR-134 hsa-miR-342-3p hsa-miR-759 hsa-miR-1273d
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    Additional cDNA sequence: 

    AB209494.1 AF010403.1 AF010404.1 AL359940.1 BC039197.2 BC040663.2 CR749712.1 U80756.1 
    X85325.1 Y08267.1 

    20 DOTS entries:

    DT.102836886  DT.100749691  DT.97860248  DT.95314560  DT.411558  DT.121192255  DT.75151830  DT.91659551 
    DT.97786194  DT.99978924  DT.100059300  DT.92009427  DT.92050840  DT.92442800  DT.95314601  DT.100841362 
    DT.121192248  DT.92442804  DT.95140329  DT.95243329 

    9 AceView cDNA sequences:

    BC039197 AF010404 BC040663 AF010403 AL359940 NM_003482 CR749712 Y08267 
    X85325 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for MLL2 (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 MLL2

    (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

    MLL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTGTATCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MLL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLL2

    SOURCE GeneReport for Unigene cluster: Hs.731384

    UniProtKB/Swiss-Prot: MLL2_HUMAN, O14686
    Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of
    the liver

        SABiosciences Expression via Pathway-Focused PCR Array including MLL2: 
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL2

    (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 eukaryotes.

    Orthologs for MLL2 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia MLL26
    --
    54(a)
    1 ↔ 1
    GL343198.1(2802348-2930966)
    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
    39(a)
    1 ↔ 1
    23(27997621-28036519)
    fruit fly
    (Drosophila melanogaster)
    Insecta trr3 eye morphogenesis (sensu Drosophila) DNA
    binding
    52(a)   2B14   --
    worm
    (Caenorhabditis elegans)
    Secernentea set-166
    --
    23(a)
    1 → many
    III(13643817-13656684)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SDG296
    ATX36
    (see all 5)
    histone-lysine N-methyltransferase ATX3
    (see all 5)
    9(a)
    9(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    5(21677146-21683494)
    3(22850837-22856972)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    histone-lysine N-methyltransferase ATX5, putative,...
    histone-lysine N-methyltransferase, H3 lysine-4 sp...
    (see all 3)
    9(a)
    13(a)
    (see all 3)
    many ↔ many
    possible ortholog
    (see all 3)
    1(6506356-6513891)
    9(2600650-2614934)


    ENSEMBL Gene Tree for MLL2 (if available)
    TreeFam Gene Tree for MLL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MLL2 gene
    MLL42  MLL2  SETD1B2  MLL32  SETD1A2  
    5 SIMAP similar genes for MLL2 using alignment to 4 protein entries:     MLL2_HUMAN (see all proteins):
    DKFZp686C08112    MLL3    MLL4    MLL    FP13812

    MLL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/571 NCBI SNPs in MLL2 are shown (see all 571    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1884794341,2
    --49414719(+) GCCCAC/TAATTA 1 -- ut310--------
    rs1920359801,2
    --49414748(+) TTGTTA/GTTGTT 1 -- ut310--------
    rs2017173121,2
    --49415099(+) AGGCA-/GGGGCC 1 -- ut310--------
    rs1997981791,2
    --49415578(+) CATTTC/TCGACA 2 R syn10--------
    rs120997801,2
    C,F,H,--49415718(+) GAGAAG/AATATG 1 -- int18Minor allele frequency- A:0.03NS EA NA 1090
    rs2013204121,2
    --49416031(+) GGGACC/TACTAA 1 -- int10--------
    rs345462171,2
    C,--49416047(+) TCCTT-/CCTCGT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1454823391,2
    C,--49416074(+) GGGCCA/GCCGGT 2 G syn10--------
    rs1503926211,2
    C,--49416187(+) TGGCA-/GGG   
      GGGGGG
    GTGGT
    1 -- int10--------
    rs111688251,2
    C,H--49416215(+) GGAGAC/TTCAGG 1 -- int16Minor allele frequency- T:0.00NS EA NA 410

    HapMap Linkage Disequilibrium report for MLL2 (49412758 - 49453557 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MLL2
         1 CNV: 4777
    Human Gene Mutation Database (HGMD): MLL2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MLL2
    DNA2.0 Custom Variant and Variant Library Synthesis for MLL2

    (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.)
    About This Section

    MLL2 for disorders           About GeneDecksing

    OMIM gene information: 602113   
    OMIM disorders: 147920  
    UniProtKB/Swiss-Prot: MLL2_HUMAN, O14686
  • Defects in MLL2 are the cause of Kabuki syndrome type 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

    16 diseases for MLL2:    About MalaCards
    kabuki syndrome    mental retardation syndrome    corneal staphyloma    otitis media
    leukemia    weaver syndrome    wermer syndrome    spinocerebellar ataxia
    fanconi's anemia    dwarfism    scoliosis    acute leukemia
    anemia    ataxia    homocysteine    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for MLL2:
    Corneal staphyloma     Weaver syndrome

    Export disorders for MLL2 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 MLL2 gene, integrated from 9 sources (see all 60):
    (articles sorted by number of sources associating them with MLL2)
        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. How genetically heterogeneous is Kabuki syndrome?: MLL 2 testing in 116 patients, review and analyses of mutation and phenotypic spectr um. (PubMed id 22126750)1 Banka S....Donnai D. (2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (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: 8085 HGNC: 7133 AceView: MLL2 Ensembl:ENSG00000167548 euGenes: HUgn8085
    ECgene: MLL2 Kegg: 8085 H-InvDB: MLL2

    (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 MLL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MLL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MLL2 gene:
    Search GeneIP for patents involving MLL2

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



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     Regulatory tfbs in MLL2 promoter
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