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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
KMT2A 4297 lysine (K)-specific methyltransferase 2A  11TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23259788   2013Cell line : -

Source : -

Sample Type : -

No. of Sample : 40 CRC with MSI-H and 59 CRC with MSI-L/MSS

Stage : -

SSCP, DNA sequencingFrameshift Mutation-Frameshift mutations of MLL genes and loss of expression of MLL3 protein are common in GC and CRC with MSI-H.


Gene Details



NC_000011.9 (118307205..118397539)

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Gene Type protein coding
Gene Family Chromatin-modifying enzymes / K-methyltransferases, "Zinc fingers, PHD-type"
Description This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]  
Chromosome 11
Location 11q23
Start 118307205  
End 118397539  
Strand +  
Gene Sequence

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Length 90335  
OMIM ID 159555   
HGNC ID HGNC:7132   
Unigene ID Hs.258855   
Ensembl ID ENSG00000118058   
PharmGKB ID PA241   

mRNA Information


mRNA ID NM_001197104.1
Exon join(1..455,32286..32355,35173..37826,40316..40493, 41478..41712,43685..43749,45226..45603,45933..46006, 47694..47825,48373..48486,52125..52271,53303..53398, 53640..53760,54707..54829,55255..55439,56568..56741, 57799..57909,58205..58278,59211..59404,59772..59878, 61447..61584,61881..62039,62814..62931,63346..63424, 64498..64658,65183..65368,65909..70157,71040..71120, 72647..72711,73459..73629,75462..75536,83129..83303, 83468..83575,84313..84396,84799..84928,85408..90335)  
mRNA Sequence

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Length 16608  



CDS Information


   
Location 24..11942
CDS Sequence

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CCDS ID CCDS31686.1



Protein Information


      
Protein ID NP_001184033.1
Protein Namelysine (K)-specific methyltransferase 2A
Molecular Wt. (Da)53554
Protein Sequence

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Length 3972  
Uniprot IDP42166
Ensembl Protein ID ENSP00000266732  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation2151
SPhosphorylation2866
TPhosphorylation2940
SPhosphorylation3036
SPhosphorylation3511
DProteolytic Cleavage2666
DProteolytic Cleavage2718
SPhosphorylation1837
TPhosphorylation1845
TPhosphorylation337;-
SPhosphorylation136
SPhosphorylation153
SPhosphorylation197
SPhosphorylation202
SPhosphorylation504
SPhosphorylation518
TPhosphorylation506
SPhosphorylation680
SPhosphorylation828
TPhosphorylation840
SPhosphorylation829
SPhosphorylation831
TPhosphorylation833
SPhosphorylation1056
TPhosphorylation1839
SPhosphorylation1858
SPhosphorylation2098
TPhosphorylation2147
TPhosphorylation2525
SPhosphorylation2955
TPhosphorylation3028
TPhosphorylation3038
SPhosphorylation3057
TPhosphorylation3067
TPhosphorylation3372
SPhosphorylation3518
SPhosphorylation3517
SPhosphorylation3515
SPhosphorylation3050
SPhosphorylation279
SPhosphorylation2729
SPhosphorylation1241
TPhosphorylation2153
SPhosphorylation2691
SPhosphorylation926
KAcetylation1235
KAcetylation1130
KAcetylation636
SPhosphorylation161
SPhosphorylation167
SPhosphorylation3525
SPhosphorylation2953
SPhosphorylation3527
SPhosphorylation2938
TPhosphorylation2094
SPhosphorylation1684
SPhosphorylation1685
TPhosphorylation268
SPhosphorylation283
SPhosphorylation418
TPhosphorylation424
SPhosphorylation684
SPhosphorylation742
SPhosphorylation897
SPhosphorylation901
TPhosphorylation972
SPhosphorylation982
TPhosphorylation1376
SPhosphorylation2198
TPhosphorylation2750
SPhosphorylation2870
SPhosphorylation2871
SPhosphorylation3053
SPhosphorylation3216
SPhosphorylation3644
SPhosphorylation1682
SPhosphorylation3508

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                      
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
356FASLG610NP_000630.1in vivo12023017   
3054HCFC12061NP_005325.2in vitro15199122   
4221MEN1564NP_000235.2in vivo15199122   
5929RBBP52826NP_005048.2in vitro;in vivo1   596   097   515   199   120   
6045RNF27028NP_009143.1in vivo15960975   
6418SET9023NP_001116293.1in vitro;yeast 2-hybrid9353299   
9070ASH2L5309NP_004665.2in vivo15199122   
11091WDR510614NP_060058.1in vitro;in vivo1   596   097   515   199   120   
29915HCFC26393NP_037452.1in vitro15199122   
84148MYST111381AAH37773.1in vitro;in vivo15960975   


Pathway Information


            
Pathway Name Pathway ID
Lysine degradation hsa00310
Transcriptional misregulation in cancer hsa05202


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd156931871-1983  ePHD_KMT2A
cl228511871-1983  PHD_SF superfamily
cd054931647-1777  Bromo_ALL-1
cl025561647-1777  Bromodomain superfamily
cd155921568-1624  PHD3_KMT2A
cl228511568-1624  PHD_SF superfamily
cd155881433-1479  PHD1_KMT2A
cl228511433-1479  PHD_SF superfamily
cd155901481-1530  PHD2_KMT2A
cl228511481-1530  PHD_SF superfamily
cd156641873-1977  ePHD_KMT2A_like
cd156941873-1977  ePHD_KMT2B
smart003173831-3951  SET
cl025663831-3951  SET superfamily
cd156661873-1977  ePHD2_KMT2C_like
pfam008563840-3944  SET
smart005423669-3752  FYRC
cl026513669-3752  FYRC superfamily
cd155711873-1977  ePHD
cd156971873-1977  ePHD2_KMT2C
pfam137711900-1978  zf-HC5HC2H
cd156981873-1978  ePHD2_KMT2D
cd155061433-1479  PHD1_KMT2A_like
pfam059653666-3747  FYRC
cd155081568-1624  PHD3_KMT2A_like
cd155891433-1479  PHD1_KMT2B
cd155931568-1624  PHD3_KMT2B
pfam020081147-1194  zf-CXXC
cl034011147-1194  zf-CXXC superfamily
cd155071481-1530  PHD2_KMT2A_like
cd156731873-1977  ePHD_PHF6_like
cd155911481-1530  PHD2_KMT2B
cd156681898-1977  ePHD_RAI1_like
cd156651898-1977  ePHD1_KMT2C_like
pfam059642023-2073  FYRN
cl026502023-2073  FYRN superfamily
cd156691873-1977  ePHD_PHF7_G2E3_like
cd157121873-1977  ePHD_PHF11
smart005412030-2073  FYRN
cd156961898-1961  ePHD1_KMT2C
cd157001898-1977  ePHD_RAI1
cd156951898-1961  ePHD1_KMT2D
smart002971633-1765  BROMO
cd157111873-1977  ePHD2_PHF6
pfam006281433-1482  PHD
pfam138321871-1977  zf-HC5HC2H_2
cd156991898-1977  ePHD_TCF20
cd157101873-1977  ePHD1_PHF6
smart002491481-1530  PHD
cd154891481-1530  PHD_SF
pfam006281481-1533  PHD
pfam006281582-1627  PHD
cd156711873-1977  ePHD_JADE
cd156701896-1977  ePHD_BRPF
cd157061873-1977  ePHD_JADE3
cd156751873-1977  ePHD_JMJD2
smart002491433-1479  PHD
cd156621873-1977  ePHD_ATX1_2_like
cd157011873-1960  ePHD_BRPF1
smart002491932-1977  PHD
smart002491582-1624  PHD
cd043691703-1757  Bromodomain
cd156631898-1977  ePHD_ATX3_4_5_like
cd157051897-1977  ePHD_JADE2
cd155141584-1624  PHD6_KMT2C_like
cd155011482-1530  PHD_Int12
cd157071873-1977  ePHD_RNO
cd155251482-1530  PHD_UHRF1_2
cd154891582-1624  PHD_SF
cd155321481-1530  PHD2_CHD_II
cd156171482-1530  PHD_UHRF2
cd155171586-1624  PHD_TCF19_like
cd157031873-1977  ePHD_BRPF3
cd155001482-1530  PHD1_PHF1
cd155521585-1624  PHD_PHF3_like
cd155021481-1530  PHD_Phf1p_Phf2p_like
pfam104282106-2272  SOG2
cl123852106-2272  SOG2 superfamily
cd156161482-1530  PHD_UHRF1
cd156001582-1624  PHD6_KMT2C
cd154891433-1479  PHD_SF
cd054951664-1730  Bromo_cbp_like
cd157151873-1977  ePHD_JMJD2C
smart005083953-3969  PostSET
cl026363953-3969  PostSET superfamily
cd156141587-1624  PHD_HAC_like
cd154891932-1977  PHD_SF
cd155661481-1512  PHD3_NSD
cd157021873-1960  ePHD_BRPF2
cd155381481-1530  PHD_PRKCBP1
cd156151568-1624  PHD_ARID4_like
cd155351481-1530  PHD1_Rco1
cd157131873-1977  ePHD_JMJD2A
cd157141873-1977  ePHD_JMJD2B
cd155621479-1530  PHD2_PHF14
COG29403825-3969  SET
COG51411896-1973  COG5141
PTZ00449221-534  PTZ00449
pfam154461482-1512  zf-PHD-like


Ontology Information


   
HPRD ID2993
Molecular ClassNot Available
Molecular FunctionExtracellular matrix structural constituent (GO:0005201)
Biological ProcessCell growth and/or maintenance (GO:0008151)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO