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KMT2A (myeloid/lymphoid or mixed lineage leukemia)

Identity

Other namesMLL (myeloid/lymphoid or mixed lineage leukemia)
ALL1, HRX, Htrx (human trithorax), TRX1
HGNC (Hugo) KMT2A
LocusID (NCBI) 4297
Location 11q23.3
Location_base_pair Starts at 118307205 and ends at 118397539 bp from pter ( according to hg19-Feb_2009)
Local_order telomeric to PLZF, centromeric from RCK
 
  MLL partner genes - Rolf Marschalek Nov 2002.

DNA/RNA

 
  MLL (11q23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Description 37 exons, spanning over 100 kb
Transcription in a centromeric to telomeric direction; 13 and 15 kb; coding sequence: 11.9 kb

Protein

 
Description 3969 amino acids; 431 KDa; contains from N-term to C-term 3 AT hooks homologous to high mobility group proteins HMGA1 and HMGA2, binding to the minor grove of DNA; 2 speckled nuclear localisation signals; 2 repression domains RD1 and RD2: RD1 or CXXC: cystein methyl transferase, binds CpG rich DNA, has a transcriptional repression activity; RD2 recruits histone desacetylases HDAC1 and 2; 3 plant homeodomains (cystein rich zinc finger domains, with homodimerization properties), 1 bromodomain (may bind acetylated histones), and 1 plant homeodomain; these domains may be involved in protein-protein interaction; a FYRN and a FRYC domain; a transactivation domain which binds CBP ; may acetylates H3 and H4 in the HOX area; a SET domain: methyltransferase; methyltates H3, including histones in the HOX area for allowing chromatin to be open to transcription. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus: a p300/320 N-term protein called MLL-N, and a p180 C-term protein, called MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID.
 
Expression wide; especially in: brain, kidney, thyroid; expressed in Taned B lymphocytes and myeloid cells
Localisation nuclear, in punctate spots
Function transcriptional regulatory factor; MLL may have yin-yang functions through actions of MLL-N and MLL-C (e.g. desacetylation/acetylation); MLL-N acts as a transcriptional repressor; MLL can be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development, through regulation of HOX genes expression regulation ( HOXA9 in particular).
Homology trithorax (Drosophila), ALR (human), MLL2 (human)

Mutations

Note MLL is implicated in at least 10 % of acute leukaemias (AL) of various types: acute lymphoblastic leukemias (ALL), acute non lymphocytic leukemias (ANLL), biphenotypic ALs, treatment related leukemias, infant leukemias; the prognosis is poor

Implicated in

Entity t(4;11)(q21;q23)/acute leukaemias --> MLL-AFF1 (AF4)
Disease typically CD19+ CD10-precursor B-ALL, biphenotypic AL, at times ANLL (M4/M5); common in infants may be congenital; treatment related leukaemia (secondary to epipodophyllotoxins)
Prognosis median survival < 1yr
Cytogenetics additional chromosome anomalies are found in 1/4 of cases, one of which is the i(7q)
Hybrid/Mutated Gene 5' MLL-3' AF4; 12kb
Abnormal Protein 240 kDa protein with about 1400 aminoacids from NH2 MLL and 850 from COOH AF4 (variable breakpoints); the reciprocal may or may not be expressed
  
Entity t(6;11)(q27;q23) /ANLL -->MLL- MLLT4 (AF6)
Disease M5/M4 de novo and therapy related ANLL, T-cell ALL
Prognosis poor
  
Entity t(9;11) (p22;q23)/ANLL -->MLL-MLLT3 (AF9)
Disease M5/M4 de novo and therapy related ANLL
Prognosis the prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary ANLL cases
Cytogenetics may be overlooked; often as a sole anomaly
Hybrid/Mutated Gene variable breakpoints on both genes
Abnormal Protein N-term -- AT hook and DNA methyltransferase from MLL fused to the 192 C-term amino acids from AF9 (as breakpoints are variable, this is only an example)
  
Entity t(10;11)(p12;q23) /ANLL --> MLL- MLLT10 (AF10)
Disease M4 or M5 ANLL; ALL at times; therapy related ANLL
Prognosis poor
  
Entity t(11;19)(q23;p13.1) /ANLL --> MLL-ELL
Disease mainly M4/M5; treatment related leukemia; all ages
Prognosis very poor
Cytogenetics detected with R banding
Hybrid/Mutated Gene 5' MLL - 3' ELL
Abnormal Protein AT hook and DNA methyltransferase from MLL fused to most of ELL
Oncogenesis potential transcription factor
  
Entity t(11;19)(q23;p13.3) /acute leukaemias --> MLL-MLLT1 (ENL)
Disease ALL (CD19+), biphenotypic AL, ANLL (M4/M5); mainly congenital; treatment-related leukaemia
Prognosis very poor, except in rare T-cell cases
Cytogenetics detected with G banding
Hybrid/Mutated Gene 5' MLL - 3' ENL
Abnormal Protein AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL
  
Entity Other entities:
  • t(X;11)(q13;q23)/ANLL, T-ALL --> MLL - AFX1
  • t(X;11)(q22;q23)/ANLL --> MLL- Septin2
  • t(1;11)(p32;q23)/ALL --> MLL- EB15 (AF1p)
  • t(1;11)(q21;q23)/ANLL --> MLL- MLLT11 (AF1q)
  • t(2;11)(q11;q23)/ALL --> MLL- AFF3 (LAF4)
  • t(3;11)(p21;q23)/t-ANLL, ALL--> MLL- NCKIPSD (AF3p21)
  • t(3;11)(q21;q23)/ALL --> MLL- EEFSEC (SELB)
  • t(3;11)(q25;q23)/t-ANLL --> MLL - GMPS
  • t(3;11)(q28;q23)/ANLL --> MLL - LPP
  • t(4;11)(p12;q23) --> MLL - AF4p12
  • t(4;11)(q12;q23) --> MLL - MIFL
  • t(4;11)(q21;q23)/atypical CML --> MLL - SEPT11
  • t(4;11)(q35;q23)--> MLL - ArgBP2
  • t(5;11)(q31;q23)/ANLL, ALL --> MLL - ARHGAP26 (GRAF)
  • ins(5;11)(q31;q13q23)/ALL --> MLL - AFF4 (AF5q31)
  • t(6;11)(q12;q23)/ANLL --> MLL - SMAP1
  • t(6;11)(q21;q23)/ANLL --> MLL - FOXO3A (AF6q21)
  • t(9;11)(q34;q23)/ANLL --> MLL - DAB2IP (AF9q34)
  • t(10;11)(p11;q23)/ANLL --> MLL - ABI1
  • t(10;11)(q21;q23)/ANLL --> MLL - CXXC6 (TET1)
  • t(11;11)(q21;q23)/ANLL --> MLL - PICALM
  • trisomy 11/ANLL --> MLL tandem duplication
  • t(11;11)(q23;q23)/ANLL --> MLL - CBL
  • t(11;11)(q23;q23)/ANLL --> MLL - ARHGEF12 (LARG)
  • t(11;11)(q23;q24)/ANLL --> MLL - TIRAP
  • t(11;12)(q23;q13)/ANLL --> MLL - CIP29
  • t(11;14)(q23;q24)/ANLL, AUL --> MLL - GPHN
  • t(11;15)(q23;q14)/ANLL, ALL --> MLL - CASC5 (AF15q14)
  • t(11;15)(q23;q14) --> MLL - MPFYVE
  • t(11;15)(q23;q15) --> MLL - AF15
  • t(11;16)(q23;p13)/MDS, ANLL, t-ANLL, ALL --> MLL - CREBBP (CBP)
  • t(11;17)(q23;p13)/t-ANLL --> MLL - GAS7
  • t(11;17)(q23;q21)/ANLL --> MLL - ACACA
  • t(11;17)(q23;q21)/ANLL --> MLL - LASP1
  • t(11;17)(q23;q21)/ ANLL --> MLL - MLLT6 (AF17)
  • t(11;17)(q23;q21)/ANLL --> MLL - RARa
  • t(11;17)(q23;q25)/ MDS, ANLL --> MLL - SEPT9 (MSF1, AF17q25)
  • t(11;19)(q23;p13)/ANLL --> MLL - SH3GLI1 (EEN)
  • t(11;19)(q23;p13)/ANLL --> MLL - MYO1F
  • t(11;20)(q23;q11)/ALL --> MLL - MAPRE1 (EB1)
  • t(11;22)(q23;q11.2)/ANLL --> MLL - SEPT5 (hCDCRel)
  • t(11;22)(q23;q13) /ANLL --> MLL - EP300 (P300)
  •   

    Breakpoints

     
    Note spanning a 8 kb genomic region; between exons 5 to 11; highly variable on the partner, ranging from close to the NH2-term in MLLT1 (ENL), to near the COOH-term in MLLT3 (AF9)

    To be noted

    the card on 11q23 rearrangements, gives an overview on diseases implicating MLL, as well as 11q23 rearrangements in therapy related leukaemias
    See also 11q23 rearrangements in childhood acute lymphoblastic leukemia: Clinical aspects and congenital leukemias

    External links

    Nomenclature
    HGNC (Hugo)KMT2A   7132
    Cards
    AtlasMLL
    Entrez_Gene (NCBI)KMT2A  4297  lysine (K)-specific methyltransferase 2A
    GeneCards (Weizmann)KMT2A
    Ensembl (Hinxton)ENSG00000118058 [Gene_View]  chr11:118307205-118397539 [Contig_View]  KMT2A [Vega]
    AceView (NCBI)KMT2A
    Genatlas (Paris)KMT2A
    WikiGenes4297
    SOURCE (Princeton)NM_001197104 NM_005933 NM_024891
    Genomic and cartography
    GoldenPath (UCSC)KMT2A  -  11q23.3   chr11:118307205-118397539 +  11q23   [Description]    (hg19-Feb_2009)
    EnsemblKMT2A - 11q23 [CytoView]
    Mapping of homologs : NCBIKMT2A [Mapview]
    OMIM159555   605130   
    Gene and transcription
    Genbank (Entrez)AB209508 AF232000 AF232001 AF272370 AF272371
    RefSeq transcript (Entrez)NM_001197104 NM_005933 NM_024891
    RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_027813 NT_033899 NW_001838042 NW_003871072 NW_004929381
    Consensus coding sequences : CCDS (NCBI)KMT2A
    Cluster EST : UnigeneHs.258855 [ NCBI ]
    CGAP (NCI)Hs.258855
    Alternative Splicing : Fast-db (Paris)GSHG0005298
    Alternative Splicing GalleryENSG00000118058
    Gene ExpressionKMT2A [ NCBI-GEO ]     KMT2A [ SEEK ]   KMT2A [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ03164 (Uniprot)
    NextProtQ03164  [Medical]
    With graphics : InterProQ03164
    Splice isoforms : SwissVarQ03164 (Swissvar)
    Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
    Domaine pattern : Prosite (Expaxy)BROMODOMAIN_2 (PS50014)    FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_CXXC (PS51058)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
    Domains : Interpro (EBI)AT_hook_DNA-bd_motif    Bromodomain    FYrich_C    FYrich_N    MeTrfase_trithorax    Post-SET_dom    SET_dom    Znf_CXXC    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
    Related proteins : CluSTrQ03164
    Domain families : Pfam (Sanger)FYRC (PF05965)    FYRN (PF05964)    PHD (PF00628)    SET (PF00856)    zf-CXXC (PF02008)   
    Domain families : Pfam (NCBI)pfam05965    pfam05964    pfam00628    pfam00856    pfam02008   
    Domain families : Smart (EMBL)AT_hook (SM00384)  BROMO (SM00297)  FYRC (SM00542)  FYRN (SM00541)  PHD (SM00249)  PostSET (SM00508)  SET (SM00317)  
    DMDM Disease mutations4297
    Blocks (Seattle)Q03164
    PDB (SRS)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6   
    PDB (PDBSum)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6   
    PDB (IMB)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6   
    PDB (RSDB)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6   
    Human Protein AtlasENSG00000118058
    Peptide AtlasQ03164
    HPRD01162
    IPIIPI00009286   IPI00218500   IPI00982112   IPI00387009   IPI00984625   IPI00384732   IPI00384738   IPI01008791   IPI00387010   IPI00387011   IPI00387012   IPI00387013   IPI01026346   IPI00984052   IPI00980012   
    Protein Interaction databases
    DIP (DOE-UCLA)Q03164
    IntAct (EBI)Q03164
    FunCoupENSG00000118058
    BioGRIDKMT2A
    InParanoidQ03164
    Interologous Interaction database Q03164
    IntegromeDBKMT2A
    STRING (EMBL)KMT2A
    Ontologies - Pathways
    Ontology : AmiGOAT DNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleus  DNA methylation  transcription from RNA polymerase II promoter  protein complex assembly  apoptotic process  zinc ion binding  negative regulation of cell proliferation  anterior/posterior pattern specification  positive regulation of transporter activity  histone methyltransferase complex  embryonic hemopoiesis  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  identical protein binding  protein homodimerization activity  histone H4-K16 acetylation  transcription regulatory region DNA binding  unmethylated CpG binding  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  histone H3-K4 methylation  histone H3-K4 methylation  regulation of histone H3-K4 methylation  histone acetyl-lysine binding  MLL1 complex  histone H3-K4 trimethylation  positive regulation of cellular response to drug  
    Ontology : EGO-EBIAT DNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleus  DNA methylation  transcription from RNA polymerase II promoter  protein complex assembly  apoptotic process  zinc ion binding  negative regulation of cell proliferation  anterior/posterior pattern specification  positive regulation of transporter activity  histone methyltransferase complex  embryonic hemopoiesis  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  identical protein binding  protein homodimerization activity  histone H4-K16 acetylation  transcription regulatory region DNA binding  unmethylated CpG binding  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  histone H3-K4 methylation  histone H3-K4 methylation  regulation of histone H3-K4 methylation  histone acetyl-lysine binding  MLL1 complex  histone H3-K4 trimethylation  positive regulation of cellular response to drug  
    Pathways : KEGGLysine degradation    Transcriptional misregulation in cancer   
    REACTOMEKMT2A
    Protein Interaction DatabaseKMT2A
    Wikipedia pathwaysKMT2A
    Gene fusion - rearrangments
    Rearrangement : TICdbABI1 [10p12.1]  -  KMT2A [11q23.3]
    Rearrangement : TICdbABI2 [2q33.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbACACA [17q12]  -  KMT2A [11q23.3]
    Rearrangement : TICdbAFF1 [4q21.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbAFF3 [2q11.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbAFF4 [5q31.1]  -  KMT2A [11q23.3]
    Rearrangement : TICdbARHGAP26 [5q31.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbARHGEF12 [11q23.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbCASC5 [15q15.1]  -  KMT2A [11q23.3]
    Rearrangement : TICdbCASP8AP2 [6q15]  -  KMT2A [11q23.3]
    Rearrangement : TICdbCBL [11q23.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbCDK6 [7q21.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbCEP170B [14q32.33]  -  KMT2A [11q23.3]
    Rearrangement : TICdbCREBBP [16p13.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbDAB2IP [9q33.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbEEFSEC [3q21.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbELL [19p13.11]  -  KMT2A [11q23.3]
    Rearrangement : TICdbEP300 [22q13.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbEPS15 [1p32.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbFLNA [Xq28]  -  KMT2A [11q23.3]
    Rearrangement : TICdbFOXO3 [6q21]  -  KMT2A [11q23.3]
    Rearrangement : TICdbGAS7 [17p13.1]  -  KMT2A [11q23.3]
    Rearrangement : TICdbGMPS [3q25.31]  -  KMT2A [11q23.3]
    Rearrangement : TICdbGPHN [14q23.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbKIAA1524 [3q13.13]  -  KMT2A [11q23.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ABI1 [10p12.1]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ABI2 [2q33.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ACACA [17q12]
    Rearrangement : TICdbKMT2A [11q23.3]  -  AFF1 [4q21.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  AFF3 [2q11.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  AFF4 [5q31.1]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ARHGAP26 [5q31.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ARHGEF12 [11q23.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  CASC5 [15q15.1]
    Rearrangement : TICdbKMT2A [11q23.3]  -  CASP8AP2 [6q15]
    Rearrangement : TICdbKMT2A [11q23.3]  -  CBL [11q23.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  CDK6 [7q21.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  CEP170B [14q32.33]
    Rearrangement : TICdbKMT2A [11q23.3]  -  CREBBP [16p13.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  DAB2IP [9q33.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  EEFSEC [3q21.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ELL [19p13.11]
    Rearrangement : TICdbKMT2A [11q23.3]  -  EP300 [22q13.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  EPS15 [1p32.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  FLNA [Xq28]
    Rearrangement : TICdbKMT2A [11q23.3]  -  FOXO3 [6q21]
    Rearrangement : TICdbKMT2A [11q23.3]  -  GAS7 [17p13.1]
    Rearrangement : TICdbKMT2A [11q23.3]  -  GMPS [3q25.31]
    Rearrangement : TICdbKMT2A [11q23.3]  -  GPHN [14q23.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  KIAA1524 [3q13.13]
    Rearrangement : TICdbKMT2A [11q23.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  LASP1 [17q12]
    Rearrangement : TICdbKMT2A [11q23.3]  -  LPP [3q28]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MAML2 [11q21]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MAPRE1 [20q11.21]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT1 [19p13.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT10 [10p12.31]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT11 [1q21.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT3 [9p21.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT4 [6q27]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT6 [17q12]
    Rearrangement : TICdbKMT2A [11q23.3]  -  MYO1F [19p13.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  NCKIPSD [3p21.31]
    Rearrangement : TICdbKMT2A [11q23.3]  -  NEBL [10p12.31]
    Rearrangement : TICdbKMT2A [11q23.3]  -  NUP98 [11p15.4]
    Rearrangement : TICdbKMT2A [11q23.3]  -  PDS5A [4p14]
    Rearrangement : TICdbKMT2A [11q23.3]  -  PICALM [11q14.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SACM1L [3p21.31]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SEPT11 [4q21.1]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SEPT2 [2q37.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SEPT5 [22q11.21]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SEPT6 [Xq24]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SEPT9 [17q25.2]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SH3GL1 [19p13.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  SORBS2 [4q35.1]
    Rearrangement : TICdbKMT2A [11q23.3]  -  TET1 [10q21.3]
    Rearrangement : TICdbKMT2A [11q23.3]  -  ZFYVE19 [15q15.1]
    Rearrangement : TICdbLASP1 [17q12]  -  KMT2A [11q23.3]
    Rearrangement : TICdbLPP [3q28]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMAML2 [11q21]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMAPRE1 [20q11.21]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMLLT10 [10p12.31]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMLLT11 [1q21.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMLLT1 [19p13.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMLLT3 [9p21.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMLLT4 [6q27]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMLLT6 [17q12]  -  KMT2A [11q23.3]
    Rearrangement : TICdbMYO1F [19p13.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbNCKIPSD [3p21.31]  -  KMT2A [11q23.3]
    Rearrangement : TICdbNEBL [10p12.31]  -  KMT2A [11q23.3]
    Rearrangement : TICdbNUP98 [11p15.4]  -  KMT2A [11q23.3]
    Rearrangement : TICdbPDS5A [4p14]  -  KMT2A [11q23.3]
    Rearrangement : TICdbPICALM [11q14.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSACM1L [3p21.31]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSEPT11 [4q21.1]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSEPT2 [2q37.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSEPT5 [22q11.21]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSEPT6 [Xq24]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSEPT9 [17q25.2]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSH3GL1 [19p13.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbSORBS2 [4q35.1]  -  KMT2A [11q23.3]
    Rearrangement : TICdbTET1 [10q21.3]  -  KMT2A [11q23.3]
    Rearrangement : TICdbZFYVE19 [15q15.1]  -  KMT2A [11q23.3]
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)KMT2A
    SNP (GeneSNP Utah)KMT2A
    SNP : HGBaseKMT2A
    Genetic variants : HAPMAPKMT2A
    1000_GenomesKMT2A 
    ICGC programENSG00000118058 
    Mutations and Diseases : HGMDKMT2A
    OMIM159555    605130   
    GENETestsKMT2A
    Disease Genetic AssociationKMT2A
    Huge Navigator KMT2A [HugePedia]  KMT2A [HugeCancerGEM]
    Genomic VariantsKMT2A  KMT2A [DGVbeta]
    Exome VariantKMT2A
    dbVarKMT2A
    ClinVarKMT2A
    snp3D : Map Gene to Disease4297
    General knowledge
    Homologs : HomoloGeneKMT2A
    Homology/Alignments : Family Browser (UCSC)KMT2A
    Phylogenetic Trees/Animal Genes : TreeFamKMT2A
    Chemical/Protein Interactions : CTD4297
    Chemical/Pharm GKB GenePA241
    Clinical trialKMT2A
    Cancer Resource (Charite)ENSG00000118058
    Other databases
    Probes
    ProbeMLL1 (11q23) in normal cells (Bari)
    Litterature
    PubMed326 Pubmed reference(s) in Entrez
    CoreMineKMT2A
    iHOPKMT2A

    Bibliography

    Self-fusion of the ALL1 gene. A new genetic mechanism for acute leukemia.
    Schichman SA, Canaani E, Croce CM
    JAMA : the journal of the American Medical Association. 1995 ; 273 (7) : 571-576.
    PMID 7837391
     
    Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
    Bernard OA, Berger R
    Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
    PMID 7542910
     
    Complete exon structure of the ALL1 gene.
    Rasio D, Schichman SA, Negrini M, Canaani E, Croce CM
    Cancer research. 1996 ; 56 (8) : 1766-1769.
    PMID 8620491
     
    Exon/intron structure of the human ALL-1 (MLL) gene involved in translocations to chromosomal region 11q23 and acute leukaemias.
    Nilson I, Lchner K, Siegler G, Greil J, Beck JD, Fey GH, Marschalek R
    British journal of haematology. 1996 ; 93 (4) : 966-972.
    PMID 8703835
     
    Chromosome abnormalities in leukaemia: the 11q23 paradigm.
    Young BD, Saha V
    Cancer surveys. 1996 ; 28 : 225-245.
    PMID 8977038
     
    11q23 rearrangements in acute leukemia.
    Rubnitz JE, Behm FG, Downing JR
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 74-82.
    PMID 8558942
     
    Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
    Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E
    Oncogene. 1997 ; 15 (5) : 549-560.
    PMID 9247308
     
    Disruption of a homolog of trithorax by 11q23 translocations: leukemogenic and transcriptional implications.
    Waring PM, Cleary ML
    Current topics in microbiology and immunology. 1997 ; 220 : 1-23.
    PMID 9103672
     
    Mll rearrangements in haematological malignancies: lessons from clinical and biological studies.
    Dimartino JF, Cleary ML
    British journal of haematology. 1999 ; 106 (3) : 614-626.
    PMID 10468849
     
    MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines.
    Huntsman DG, Chin SF, Muleris M, Batley SJ, Collins VP, Wiedemann LM, Aparicio S, Caldas C
    Oncogene. 1999 ; 18 (56) : 7975-7984.
    PMID 10637508
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    Contributor(s)

    Written12-1997Jean-Loup Huret
    Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
    Updated12-2000Jay L Hess, Jean-Loup Huret
    Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
    Updated11-2002Rolf Marschalek
    Instituts für Pharmazeutische Biologie, JWG Universitaet Frankfurt/Main, Biozentrum, N230, 303, Marie Curie Str. 9, D-60439 Frankfurt/Main, Germany
    Updated10-2005Jean-Loup Huret
    Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

    Citation

    This paper should be referenced as such :
    Huret JL . KMT2A (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
    Hess JL and Huret JL . KMT2A (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. December 2000 .
    Marschalek R . KMT2A (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. November 2002 .
    Huret JL . KMT2A (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. October 2005 .
    URL : http://AtlasGeneticsOncology.org/Genes/MLL.html

    The various updated versions of this paper are referenced and archived by INIST as such :
    http://documents.irevues.inist.fr/bitstream/handle/2042/32057/12-1997-MLL.pdf   [ Bibliographic record ]
    http://documents.irevues.inist.fr/bitstream/2042/37692/1/12-2000-MLL.pdf   [ Bibliographic record ]
    http://documents.irevues.inist.fr/bitstream/2042/37925/1/11-2002-MLL.pdf   [ Bibliographic record ]
    http://documents.irevues.inist.fr/bitstream/2042/38290/1/10-2005-MLL.pdf   [ Bibliographic record ]

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