KMT2D - Histone-lysine N-methyltransferase 2D - human protein (Function)
 
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KMT2D »  Histone-lysine N-methyltransferase 2D   [ EC 2.1.1.43 ]  (Lysine N-methyltransferase 2D)
 
Protein also known as:  Myeloid/lymphoid or mixed-lineage leukemia protein 2.
Gene name:  KMT2D
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 91 2
GENE REF ISO

Function

 show evidences
Overview 
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.  
3
  • CuratedUniProtKB
GO molecular function 
DNA bindingdefinition[GO:0003677]  
1
  • NASUniProtKB
Histone-lysine N-methyltransferase activitydefinition[GO:0018024]  
  • IEAEC 2 GO
Protein bindingdefinition[GO:0005515]  
4
  • IPIIntAct
Transcription regulatory region DNA bindingdefinition[GO:0044212]  
1
  • IDAUniProtKB
Zinc ion bindingdefinition[GO:0008270] silver  
  • IEAInterPro 2 GO
GO biological process 
Chromatin silencingdefinition[GO:0006342]  
  • ISSOrtholog Curator
Histone H3-K4 methylationdefinition[GO:0051568]  
1
  • ISSUniProtKB
  • ISSOrtholog Curator
In utero embryonic developmentdefinition[GO:0001701] silver  
  • IEAOrtholog Compara
Oocyte growthdefinition[GO:0001555]  
  • ISSOrtholog Curator
Oogenesisdefinition[GO:0048477]  
  • ISSOrtholog Curator
Positive regulation of cell proliferationdefinition[GO:0008284]  
1
  • IMPUniProtKB
Positive regulation of intracellular estrogen receptor signaling pathwaydefinition[GO:0033148]  
1
  • IMPUniProtKB
Positive regulation of transcription from RNA polymerase II promoterdefinition[GO:0045944]  
1
  • IMPUniProtKB
Regulation of transcription, DNA-templateddefinition[GO:0006355]  
1
  • NASUniProtKB
Response to estrogendefinition[GO:0043627]  
1
  • IDAUniProtKB
Transcription, DNA-templateddefinition[GO:0006351]  
  • IEAUniProtKB KW
Enzymatic activity 
This protein acts as an enzyme. It is known to catalyze the following reaction
EC 2.1.1.43: S-adenosyl-L-methionine + L-lysine-[histone] S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].  
2
  • CuratedUniProtKB
Pathways 
According to KEGG, this protein belongs to the following pathway:
Lysine degradation  hsa00310+8085  
According to Reactome, this protein belongs to the following pathway:
Signal Transduction  REACT_111102  
Note 
This gene mapped to a chromosomal region involved in duplications and translocations associated with cancer.  
  • CuratedUniProtKB
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.  
  • CuratedUniProtKB
 

Keywords

Biological process 
Transcription  definition   [KW-0804]
Transcription regulation  definition   [KW-0805]
Molecular function 
Chromatin regulator  definition   [KW-0156]
Methyltransferase  definition   [KW-0489]
Transferase  definition   [KW-0808]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: MLL2
GenomeRNAi: 8085
PRO: PR:O14686