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KMT2A (myeloid/lymphoid or mixed lineage leukemia)

Written2005-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
2002-11Rolf Marschalek
Instituts für Pharmazeutische Biologie, JWG Universitaet Frankfurt/Main, Biozentrum, N230, 303, Marie Curie Str. 9, D-60439 Frankfurt/Main, Germany
2000-12Jay L Hess, Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)MLL (myeloid/lymphoid or mixed lineage leukemia)
ALL1, HRX, Htrx (human trithorax), TRX1
HGNC (Hugo) KMT2A
HGNC Alias symbTRX1
HRX
ALL-1
HTRX1
CXXC7
MLL1A
HGNC Alias nameHistone-lysine N-methyltransferase 2A
HGNC Previous nameMLL
HGNC Previous namemyeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)
 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
 lysine (K)-specific methyltransferase 2A
LocusID (NCBI) 4297
Atlas_Id 13
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 118436492 and ends at 118526832 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping KMT2A.png]
Local_order telomeric to PLZF, centromeric from RCK
 
  MLL partner genes - Rolf Marschalek Nov 2002.
 
  KMT2A (myeloid/lymphoid or mixed lineage leukemia) Hybridization with Vysis LSI MLL Dual Color, Break Apart Rearrangement Probe (Abbott Molecular, US), showing the MLL (KMT2A) gene on 11q23.3 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABI1 (10p12.1)::KMT2A (11q23.3)ACER1 (19p13.3)::KMT2A (11q23.3)ACTN4 (19q13.2)::KMT2A (11q23.3)
AFDN (6q27)::KMT2A (11q23.3)AFF1 (4q21.3)::KMT2A (11q23.3)AFF3 (2q11.2)::KMT2A (11q23.3)
AFF4 (5q31.1)::KMT2A (11q23.3)ARHGAP18 (6q22.33)::KMT2A (11q23.3)ARHGAP26 (5q31.3)::KMT2A (11q23.3)
ARHGEF12 (11q23.3)::KMT2A (11q23.3)ATG16L2 (11q13.4)::KMT2A (11q23.3)BTBD18 (11q12.1)::KMT2A (11q23.3)
CBL (11q23.3)::KMT2A (11q23.3)CCDC94 (19p13.3)::KMT2A (11q23.3)CDK6 (7q21.2)::KMT2A (11q23.3)
CENPK (5q12.3)::KMT2A (11q23.3)CLP1 (11q12.1)::KMT2A (11q23.3)CREBBP (16p13.3)::KMT2A (11q23.3)
DAB2IP (9q33.2)::KMT2A (11q23.3)DOCK11 (Xq24)::KMT2A (11q23.3)DSCAML1 (11q23.3)::KMT2A (11q23.3)
ELF2 (4q31.1)::KMT2A (11q23.3)ELL (19p13.11)::KMT2A (11q23.3)EP300 (22q13.2)::KMT2A (11q23.3)
EPS15 (1p32.3)::KMT2A (11q23.3)FN1 (2q35)::KMT2A (11q23.3)FNBP1 (9q34.11)::KMT2A (11q23.3)
FOXO3 (6q21)::KMT2A (11q23.3)FOXO4 (Xq13.1)::KMT2A (11q23.3)FRYL (4p11)::KMT2A (11q23.3)
FXYD6 (11q23.3)::KMT2A (11q23.3)GAS7 (17p13.1)::KMT2A (11q23.3)GMPS (3q25.31)::KMT2A (11q23.3)
GPHN (14q23.3)::KMT2A (11q23.3)HOXD1 (2q31.1)::KMT2A (11q23.3)KMT2A (11q23.3)::ABI1 (10p12.1)
KMT2A (11q23.3)::ABI2 (2q33.2)KMT2A (11q23.3)::ACACA (17q12)KMT2A (11q23.3)::ACTN4 (19q13.2)
KMT2A (11q23.3)::AFDN (6q27)KMT2A (11q23.3)::AFF1 (4q21.3)KMT2A (11q23.3)::AFF3 (2q11.2)
KMT2A (11q23.3)::AFF4 (5q31.1)KMT2A (11q23.3)::AKAP13 (15q25.3)KMT2A (11q23.3)::ANKHD1-EIF4EBP3 (5q31.3)
KMT2A (11q23.3)::AP2A2 (11p15.5)KMT2A (11q23.3)::ARHGAP26 (5q31.3)KMT2A (11q23.3)::ARHGEF12 (11q23.3)
KMT2A (11q23.3)::ARHGEF17 (11q13.4)KMT2A (11q23.3)::ATAD2 (8q24.13)KMT2A (11q23.3)::ATP5L (11q23.3)
KMT2A (11q23.3)::BCL9L (11q23.3)KMT2A (11q23.3)::BTBD18 (11q12.1)KMT2A (11q23.3)::BUD13 (11q23.3)
KMT2A (11q23.3)::C2CD3 (11q13.4)KMT2A (11q23.3)::CASP8AP2 (6q15)KMT2A (11q23.3)::CBL (11q23.3)
KMT2A (11q23.3)::CCDC94 (19p13.3)KMT2A (11q23.3)::CCNJL (5q33.3)KMT2A (11q23.3)::CDC42SE2 (5q23.3)
KMT2A (11q23.3)::CDK6 (7q21.2)KMT2A (11q23.3)::CELSR3 (3p21.31)KMT2A (11q23.3)::CENPK (5q12.3)
KMT2A (11q23.3)::CEP164 (11q23.3)KMT2A (11q23.3)::CEP170B (14q32.33)KMT2A (11q23.3)::CIP2A (3q13.13)
KMT2A (11q23.3)::CLP1 (11q12.1)KMT2A (11q23.3)::CLTC (17q23.1)KMT2A (11q23.3)::CREBBP (16p13.3)
KMT2A (11q23.3)::CT45A2 (Xq26.3)KMT2A (11q23.3)::DAB2IP (9q33.2)KMT2A (11q23.3)::DCP1A (3p21.1)
KMT2A (11q23.3)::DCPS (11q24.2)KMT2A (11q23.3)::EAF1 (3p25.1)KMT2A (11q23.3)::EEFSEC (3q21.3)
KMT2A (11q23.3)::EFNA5 (5q21.3)KMT2A (11q23.3)::ELL (19p13.11)KMT2A (11q23.3)::EP300 (22q13.2)
KMT2A (11q23.3)::EPS15 (1p32.3)KMT2A (11q23.3)::FER1L5 (2q11.2)KMT2A (11q23.3)::FLNA (Xq28)
KMT2A (11q23.3)::FN1 (2q35)KMT2A (11q23.3)::FNBP1 (9q34.11)KMT2A (11q23.3)::FOXO3 (6q21)
KMT2A (11q23.3)::FOXO4 (Xq13.1)KMT2A (11q23.3)::FOXR1 (11q23.3)KMT2A (11q23.3)::FRYL (4p11)
KMT2A (11q23.3)::FYN (6q21)KMT2A (11q23.3)::GAS7 (17p13.1)KMT2A (11q23.3)::GMPS (3q25.31)
KMT2A (11q23.3)::GNA15 (19p13.3)KMT2A (11q23.3)::GPHN (14q23.3)KMT2A (11q23.3)::HABP4 (9q22.32)
KMT2A (11q23.3)::HOXA11-AS (7p15.2)KMT2A (11q23.3)::HOXD1 (2q31.1)KMT2A (11q23.3)::KMT2A (11q23.3)
KMT2A (11q23.3)::KNL1 (15q15.1)KMT2A (11q23.3)::KXD1 (19p13.11)KMT2A (11q23.3)::LAMC3 (9q34.12)
KMT2A (11q23.3)::LASP1 (17q12)KMT2A (11q23.3)::LOC100506730 (1p36.13)KMT2A (11q23.3)::LOC643339 (12q22)
KMT2A (11q23.3)::LPP (3q28)KMT2A (11q23.3)::LRRC57 (15q15.2)KMT2A (11q23.3)::MAML2 (11q21)
KMT2A (11q23.3)::MAP3K5 (6q23.3)KMT2A (11q23.3)::MAPRE1 (20q11.21)KMT2A (11q23.3)::MATR3 (5q31.2)
KMT2A (11q23.3)::ME2 (18q21.2)KMT2A (11q23.3)::MLLT1 (19p13.3)KMT2A (11q23.3)::MLLT10 (10p12.31)
KMT2A (11q23.3)::MLLT11 (1q21.3)KMT2A (11q23.3)::MLLT3 (9p21.3)KMT2A (11q23.3)::MLLT6 (17q12)
KMT2A (11q23.3)::MYH11 (16p13.11)KMT2A (11q23.3)::MYO1F (19p13.2)KMT2A (11q23.3)::NCKIPSD (3p21.31)
KMT2A (11q23.3)::NEBL (10p12.31)KMT2A (11q23.3)::NKAIN3 (8q12.3)KMT2A (11q23.3)::NKD1 (16q12.1)
KMT2A (11q23.3)::NRIP3 (11p15.4)KMT2A (11q23.3)::OPN1LW (Xq28)KMT2A (11q23.3)::PDGFRB (5q32)
KMT2A (11q23.3)::PDS5A (4p14)KMT2A (11q23.3)::PICALM (11q14.2)KMT2A (11q23.3)::PRPF19 (11q12.2)
KMT2A (11q23.3)::PRRC1 (5q23.2)KMT2A (11q23.3)::RARA (17q21.2)KMT2A (11q23.3)::RBMS2 (12q13.3)
KMT2A (11q23.3)::ROS1 (6q22.1)KMT2A (11q23.3)::RUNDC3B (7q21.12)KMT2A (11q23.3)::RUNX1T1 (8q21.3)
KMT2A (11q23.3)::SACM1L (3p21.31)KMT2A (11q23.3)::SARNP (12q13.2)KMT2A (11q23.3)::SEPT11 (4q21.1)
KMT2A (11q23.3)::SEPT2 (2q37.3)KMT2A (11q23.3)::SEPT5 (22q11.21)KMT2A (11q23.3)::SEPT5-GP1BB (22q11.21)
KMT2A (11q23.3)::SEPT6 (Xq24)KMT2A (11q23.3)::SEPT9 ()KMT2A (11q23.3)::SEPT9 (17q25.2)
KMT2A (11q23.3)::SEPT9 (17q25.3)KMT2A (11q23.3)::SH3GL1 (19p13.3)KMT2A (11q23.3)::SLC22A10 (11q12.3)
KMT2A (11q23.3)::SLC25A24 (1p13.3)KMT2A (11q23.3)::SMAP1 (6q13)KMT2A (11q23.3)::SORBS2 (4q35.1)
KMT2A (11q23.3)::SUGP2 (19p13.11)KMT2A (11q23.3)::SYTL3 (6q25.3)KMT2A (11q23.3)::TCF12 (15q21.3)
KMT2A (11q23.3)::TET1 (10q21.3)KMT2A (11q23.3)::TIRAP (11q24.2)KMT2A (11q23.3)::TMX2-CTNND1 (11q12.1)
KMT2A (11q23.3)::TNRC18 (7p22.1)KMT2A (11q23.3)::TOP3A (17p11.2)KMT2A (11q23.3)::UGT1A8 (2q37.1)
KMT2A (11q23.3)::USP2 (11q23.3)KMT2A (11q23.3)::USP46 (4q12)KMT2A (11q23.3)::VAV1 (19p13.3)
KMT2A (11q23.3)::ZC3H13 (13q14.13)KMT2A (11q23.3)::ZDHHC7 (16q24.1)KMT2A (11q23.3)::ZFYVE19 (15q15.1)
KNL1 (15q15.1)::KMT2A (11q23.3)KRAS (12p12.1)::KMT2A (11q23.3)LASP1 (17q12)::KMT2A (11q23.3)
LPP (3q28)::KMT2A (11q23.3)MAML2 (11q21)::KMT2A (11q23.3)MAPRE1 (20q11.21)::KMT2A (11q23.3)
MEF2C (5q14.3)::KMT2A (11q23.3)MLLT1 (19p13.3)::KMT2A (11q23.3)MLLT10 (10p12.31)::KMT2A (11q23.3)
MLLT11 (1q21.3)::KMT2A (11q23.3)MLLT3 (9p21.3)::KMT2A (11q23.3)MLLT6 (17q12)::KMT2A (11q23.3)
MYO18A (17q11.2)::KMT2A (11q23.3)NCKIPSD (3p21.31)::KMT2A (11q23.3)NFKB1 (4q24)::KMT2A (11q23.3)
NT5C2 (10q24.32)::KMT2A (11q23.3)NUP98 (11p15.4)::KMT2A (11q23.3)PBX1 (1q23.3)::KMT2A (11q23.3)
PICALM (11q14.2)::KMT2A (11q23.3)RABGAP1L (1q25.1)::KMT2A (11q23.3)RAD51B (14q24.1)::KMT2A (11q23.3)
RARA (17q21.2)::KMT2A (11q23.3)RNF214 (11q23.3)::KMT2A (11q23.3)RUNX1T1 (8q21.3)::KMT2A (11q23.3)
SARNP (12q13.2)::KMT2A (11q23.3)SEPT5 (22q11.21)::KMT2A (11q23.3)SEPT6 (Xq24)::KMT2A (11q23.3)
SEPT9 (17q25.2)::KMT2A (11q23.3)SH3GL1 (19p13.3)::KMT2A (11q23.3)TCF12 (15q21.3)::KMT2A (11q23.3)
TET1 (10q21.3)::KMT2A (11q23.3)TOP3A (17p11.2)::KMT2A (11q23.3)TRIM2 (4q31.3)::KMT2A (11q23.3)
YPEL4 (11q12.1)::KMT2A (11q23.3)ZHX1 (8q24.13)::KMT2A (11q23.3)

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 (AML), biphenotypic ALs, treatment related leukemias, infant leukemias; the prognosis is poor

Implicated in

Note
  
Entity /acute leukaemias --> KMT2A-
Disease typically CD19+ CD10-precursor B-ALL, biphenotypic AL, at times AML (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 /AML -->KMT2A-
Disease M5/M4 de novo and therapy related AML, T-cell ALL
Prognosis poor
  
  
Entity /AML --> KMT2A /
Disease M5/M4 de novo and therapy related AML
Prognosis the prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary AML 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 /AML --> KMT2A /
Disease M4 or M5 AML; ALL at times; therapy related AML
Prognosis poor
  
  
Entity /AML --> KMT2A-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 /acute leukaemias --> KMT2A-
Disease ALL (CD19+), biphenotypic AL, AML (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:
  
Entity
  • /AML, T-ALL --> KMT2A / AFX1
  •   
    Entity
  • /AML --> KMT2A / SEPT2
  •   
    Entity
  • /ALL --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A /
  •   
    Entity
  • /ALL --> KMT2A /
  •   
    Entity
  • /t-AML, ALL--> KMT2A /
  •   
    Entity
  • /ALL --> KMT2A /
  •   
    Entity
  • /t-AML --> KMT2A / GMPS
  •   
    Entity
  • /AML --> KMT2A / LPP
  •   
    Entity
  • --> KMT2A / FRYL
  •   
    Entity
  • --> KMT2A / USP46
  •   
    Entity
  • /atypical CML --> KMT2A / SEPT11
  •   
    Entity
  • --> KMT2A / ArgBP2
  •   
    Entity
  • /AML, ALL --> KMT2A /
  •   
    Entity
  • /ALL --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A / SMAP1
  •   
    Entity
  • /AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A / ABI1
  •   
    Entity
  • /AML --> KMT2A / TET1
  •   
    Entity
  • /AML --> KMT2A / PICALM
  •   
    Entity
  • trisomy 11/AML --> KMT2A tandem duplication
  •   
    Entity
  • /AML --> KMT2A / CBL
  •   
    Entity
  • /AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A / TIRAP
  •   
    Entity
  • /AML --> KMT2A / SARNP
  •   
    Entity
  • /AML, AUL --> KMT2A / GPHN
  •   
    Entity
  • /AML, ALL --> KMT2A /
  •   
    Entity
  • --> KMT2A / CLDN4
  •   
    Entity
  • --> KMT2A / AF15
  •   
    Entity
  • /MDS, AML, t-AML, ALL --> KMT2A /
  •   
    Entity
  • /t-AML --> KMT2A / GAS7
  •   
    Entity
  • /AML --> KMT2A / ACACA
  •   
    Entity
  • /AML --> KMT2A / LASP1
  •   
    Entity
  • / AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A / RARA
  •   
    Entity
  • / MDS, AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A / MYO1F
  •   
    Entity
  • /ALL --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A /
  •   
    Entity
  • /AML --> KMT2A /
  •   

    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

    Bibliography

    Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
    Bernard OA, Berger R
    Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
    PMID 7542910
     
    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
     
    Exon/intron structure of the human ALL-1 (MLL) gene involved in translocations to chromosomal region 11q23 and acute leukaemias.
    Nilson I, Löchner K, Siegler G, Greil J, Beck JD, Fey GH, Marschalek R
    British journal of haematology. 1996 ; 93 (4) : 966-972.
    PMID 8703835
     
    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
     
    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
     
    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
     
    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
     
    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
     
    Chromosome abnormalities in leukaemia: the 11q23 paradigm.
    Young BD, Saha V
    Cancer surveys. 1996 ; 28 : 225-245.
    PMID 8977038
     

    Citation

    This paper should be referenced as such :
    Huret, JL
    MLL (myeloid/lymphoid or mixed lineage leukemia)
    Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):83-87.
    Free journal version : [ pdf ]   [ DOI ]
    History of this paper:
    Huret, JL. MLL (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):68-69.
    http://documents.irevues.inist.fr/bitstream/handle/2042/32057/12-1997-MLLID13.pdf
    Hess, JL ; Huret, JL. MLL (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):11-13.
    http://documents.irevues.inist.fr/bitstream/handle/2042/37692/12-2000-MLL.pdf
    Marschalek, R. MLL (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):16-18.
    http://documents.irevues.inist.fr/bitstream/handle/2042/37925/11-2002-MLL.pdf


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 148 ]
      11q23 rearrangements (KMT2A) in childhood acute lymphoblastic leukemia
    11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
    11q23 rearrangements (KMT2A) in leukaemia
    11q23 rearrangements (KMT2A) in therapy related leukaemias
    Acute myeloid leukemia with myelodysplasia related changes
    Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
    Classification of myelodysplasic syndromes 1999
    del(11)(q23q23) KMT2A::CBL::t(11;11)(q23;q23) KMT2A::CBL
    del(11)(q23q23) KMT2A::ARHGEF12
    del(18)(p11)
    del(6q)
    del(9p) in Acute Lymphoblastic Leukemia
    dup (11q) in myeloid malignancies
    Infant leukaemias::Congenital leukaemias::Neonatal leukaemias
    ins(X;11)(q28;q23q23) KMT2A::FLNA::ins(11;X)(q23;q28q12) KMT2A::FLNA
    ins(5;11)(q31;q13q23) KMT2A::AFF4
    inv(11)(p15q23) NUP98::KMT2A
    inv(11)(q13q23) KMT2A::BTBD18
    inv(11)(q21q23) KMT2A::MAML2 in therapy related leukemias
    i(Xq10) in female patients
    Mixed phenotype acute leukemia (MPAL)
    MLL amplification in leukemia
    Myeloid sarcoma
    Pediatric T-Cell Acute Lymphoblastic Leukemia
    der(2)t(1;2)(q12-21;q37)
    t(1;3)(p36;q21) PSMD2::PRDM16 ???
    t(1;11)(p32;q23) KMT2A::EPS15
    der(11)t(1;11)(q11-23;q14-25)
    t(2;8)(p23;p11) KAT6A::ASXL2
    t(2;11)(p21;q23) KMT2A::?
    t(2;11)(p21;q24) MIR125B1::?
    t(2;11)(q11;q23) KMT2A::AFF3
    t(2;11)(q33;q23) KMT2A::ABI2
    t(2;11)(q37;q23) KMT2A::SEPT2
    t(3;4)(p21;q34)
    t(3;11)(p21;q23) KMT2A::NCKIPSD
    t(3;11)(q21;q23) KMT2A::EEFSEC
    t(3;11)(q28;q23) KMT2A::LPP
    t(3;21)(q26;q22) RUNX1::MECOM
    t(4;11)(q21;q23) KMT2A::AFF1
    t(4;11)(p12;q23) KMT2A::FRYL
    t(4;11)(q23;p15) NUP98::RAP1GDS1
    t(4;11)(q35;q23) KMT2A::SORBS2
    t(5;11)(q31;q23) KMT2A::ARHGAP26
    t(5;14)(q35;q11) TRD::NKX2-5
    t(6;11)(q27;q23) KMT2A::AFDN
    t(6;11)(q13;q23) KMT2A::SMAP1
    t(6;11)(q15;q23) KMT2A::?
    t(6;11)(q21;q23) KMT2A::FOXO3
    t(6;21)(p22;q22) RUNX1-?
    inv(7)(p15q34) TRB::HOXA10::t(7;7)(p15;q34) TRB::HOXA10
    t(9;11)(q34;q23) FNBP1::KMT2A
    t(9;11)(p21;q23) KMT2A::MLLT3
    t(9;11)(q34;q23) KMT2A::DAB2IP
    t(X;11)(q13;q23) KMT2A::FOXO4
    t(X;11)(q22;q23) KMT2A::?
    t(X;11)(q24;q23) KMT2A::SEPT6
    t(X;11)(q26;q23)::ins(X;11)(q26;q23q23)
    t(10;11)(p12;q23) KMT2A::MLLT10
    t(10;11)(p11.2;q23) KMT2A::ABI1
    t(10;11)(p12;q23) KMT2A::NEBL
    t(10;11)(q22;q23) KMT2A::TET1
    t(10;16)(q22;p13) KAT6B::CREBBP
    t(11;11)(q13;q23) KMT2A::ARHGEF17
    t(11;11)(q14;q23) KMT2A::PICALM::inv(11)(q14q23) KMT2A::PICALM
    t(11;12)(q23;q13) KMT2A::SARNP
    t(11;14)(q23;q24) KMT2A::GPHN
    t(11;14)(q23;q32) KMT2A::CEP170B
    t(11;15)(q23;q14) KMT2A::CASC5
    t(11;15)(q23;q14) KMT2A::ZFYVE19
    t(11;16)(q23;p13.3) KMT2A::CREBBP
    t(11;16)(q23;q24) KMT2A::USP10
    t(11;17)(q23;q25) KMT2A::SEPT9
    t(11;17)(q23;p13) KMT2A::GAS7
    t(11;17)(q23;q12) KMT2A::RARA
    t(11;17)(q23;q12-21) KMT2A::MLLT6
    t(11;17)(q23;q21) KMT2A::ACACA
    t(11;17)(q23;q12-21) KMT2A::LASP1
    t(11;19)(q23;p13.1) KMT2A::ELL
    t(11;19)(q23;p13.3) KMT2A::MLLT1
    t(11;19)(q23;p13) KMT2A::SH3GL1
    t(11;19)(q23;p13) KMT2A::MYO1F
    t(11;19)(q23;p13.3) KMT2A::ACER1
    t(1;11)(q21;q23) KMT2A::MLLT11
    t(11;20)(q23;q11) KMT2A::MAPRE1
    t(11;22)(q23;q11.2) KMT2A::SEPT5
    t(11;22)(q23;q13) KMT2A::EP300
    t(3;11)(q25;q23) KMT2A::GMPS
    t(3;11)(q13.13;q23) KMT2A::KIAA1524
    T-lineage acute lymphoblastic leukemia (T-ALL)
    Isolated tetrasomy 8 in AML, MDS and MPD
    Therapy-Related Hematopoietic Neoplasia
    del(11)(q24) KMT2A::TIRAP
    ins(4;11)(q21;q23q23) ATG16L2::KMT2A
    ins(4;11)(q21;q23q23) DSCAML1::KMT2A
    ins(4;11)(q21;q23q23) FXYD6::KMT2A
    ins(11;4)(q23;q21q24) NFKB1::KMT2A
    ins(11;4)(q23;q21q31) ELF2::KMT2A
    ins(X;11)(q26;q23q23) KMT2A::CT45A2
    t(1;11)(p13;q23) KMT2A::SLC25A24
    t(2;11)(q11;q23) KMT2A::FER1L5
    t(3;11)(p21;q23) KMT2A::DCP1A
    t(3;11)(p21;q23) KMT2A::SACM1L
    t(3;11)(q13;q23) KMT2A::CIP2A
    t(4;11)(p14;q23) KMT2A::PDS5A
    t(4;11)(q12;q23) KMT2A::USP46
    t(4;11)(q21;q23) KMT2A::SEPT11
    t(5;11)(q12;q23) CENPK::KMT2A
    t(5;11)(q14;q23) MEF2C::KMT2A
    t(5;11)(q23;q23) KMT2A::PRRC1
    t(5;11)(q31;q23) KMT2A::MATR3
    t(5;11)(q33;q23) KMT2A::CCNJL
    t(6;11)(q15;q23) KMT2A::CASP8AP2
    t(6;11)(q23;q23) KMT2A::MAP3K5
    t(6;11)(q27;q23) AFDN::KMT2A
    t(7;11)(p22;q23) KMT2A::TNRC18
    t(7;11)(q21;q23) CDK6::KMT2A
    t(7;11)(q21;q23) KMT2A::RUNDC3B
    t(9;11)(q22;q23) KMT2A::HABP4
    t(9;11)(q34;q23) KMT2A::LAMC3
    t(11;11)(p15;q23) KMT2A::AP2A2
    t(11;11)(q12;q23) KMT2A::PRPF19
    t(11;11)(q12;q23) YPEL4::KMT2A
    t(11;11)(q13;q23) KMT2A::C2CD3
    t(11;11)(q23;q23) KMT2A::BCL9L
    t(11;11)(q23;q23) KMT2A::BUD13
    t(11;11)(q23;q23) KMT2A::CEP164
    t(11;11)(q23;q23) KMT2A::USP2
    t(11;11)(q23;q23) RNF214::KMT2A
    t(11;11)(q23;q24) KMT2A::DCPS
    t(11;11)(q24;q23) TIRAP::KMT2A
    t(11;12)(q23;p12) KRAS::KMT2A
    t(11;13)(q23;q14) KMT2A::ZC3H13
    t(11;14)(q23;q24) RAD51B::KMT2A
    t(11;15)(q23;q14):t(11;15)(q23;q15) KMT2A::KNL1
    t(11;15)(q23;q21) KMT2A::TCF12
    t(11;15)(q23;q25) KMT2A::AKAP13
    t(11;16)(q23;p13) KMT2A::MYH11
    t(11;16)(q23;q12) KMT2A::NKD1
    t(11;17)(q23;p11) KMT2A::TOP3A
    t(11;18)(q23;q21) KMT2A::ME2
    t(11;19)(q23;p13) KMT2A::SUGP2
    t(11;19)(q23;p13) KMT2A::VAV1
    t(11;19)(q23;q13) KMT2A::ACTN4
    t(X;11)(q26;q23) KMT2A::CT45A3
    +11 or trisomy 11 (solely) KMT2A
    +20 or trisomy 20 (solely)
    1q translocations (unbalanced) in myeloid malignancies


    External links

    Nomenclature
    HGNC (Hugo)KMT2A   7132
    LRG (Locus Reference Genomic)LRG_613
    Cards
    AtlasMLLID13
    Entrez_Gene (NCBI)KMT2A    lysine methyltransferase 2A
    AliasesALL-1; CXXC7; HRX; HTRX1; 
    MLL; MLL1; MLL1A; TRX1; WDSTS
    GeneCards (Weizmann)KMT2A
    Ensembl hg19 (Hinxton)ENSG00000118058 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000118058 [Gene_View]  ENSG00000118058 [Sequence]  chr11:118436492-118526832 [Contig_View]  KMT2A [Vega]
    ICGC DataPortalENSG00000118058
    TCGA cBioPortalKMT2A
    AceView (NCBI)KMT2A
    Genatlas (Paris)KMT2A
    SOURCE (Princeton)KMT2A
    Genetics Home Reference (NIH)KMT2A
    Genomic and cartography
    GoldenPath hg38 (UCSC)KMT2A  -     chr11:118436492-118526832 +  11q23.3   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)KMT2A  -     11q23.3   [Description]    (hg19-Feb_2009)
    GoldenPathKMT2A - 11q23.3 [CytoView hg19]  KMT2A - 11q23.3 [CytoView hg38]
    ImmunoBaseENSG00000118058
    Genome Data Viewer NCBIKMT2A [Mapview hg19]  
    OMIM159555   605130   
    Gene and transcription
    Genbank (Entrez)AB209508 AF024540 AF232000 AF232001 AF272370
    RefSeq transcript (Entrez)NM_001197104 NM_005933 NM_024891
    Consensus coding sequences : CCDS (NCBI)KMT2A
    Gene ExpressionKMT2A [ NCBI-GEO ]   KMT2A [ EBI - ARRAY_EXPRESS ]   KMT2A [ SEEK ]   KMT2A [ MEM ]
    Gene Expression Viewer (FireBrowse)KMT2A [ Firebrowse - Broad ]
    GenevisibleExpression of KMT2A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)4297
    GTEX Portal (Tissue expression)KMT2A
    Human Protein AtlasENSG00000118058-KMT2A [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Conserved Domain (NCBI)KMT2A
    Human Protein Atlas [tissue]ENSG00000118058-KMT2A [tissue]
    HPRD01162
    Protein Interaction databases
    BioGRIDKMT2A
    STRING (EMBL)KMT2A
    ZODIACKMT2A
    Ontologies - Pathways
    Litterature
    PubMed499 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    EVEXKMT2A
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

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    indexed on : Fri Oct 8 21:22:45 CEST 2021

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