Statements (101)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:MLL_gene
|
| gptkbp:associatedWith |
gptkb:acute_myeloid_leukemia
leukemia |
| gptkbp:discoveredIn |
1991
|
| gptkbp:encodes |
Histone-lysine N-methyltransferase 2A
|
| gptkbp:Entrez_Gene_ID |
4297
ENSG00000118058 |
| gptkbp:function |
regulation of gene expression
histone methylation |
| gptkbp:HGNC_ID |
HGNC:7132
|
| https://www.w3.org/2000/01/rdf-schema#label |
KMT2A gene
|
| gptkbp:involvedIn |
epigenetic regulation
hematopoiesis |
| gptkbp:length |
37 exons
3969 amino acids |
| gptkbp:locatedOnChromosome |
gptkb:11q23
|
| gptkbp:mutationAssociatedWith |
translocation
oncogenesis fusion proteins |
| gptkbp:OMIM |
159555
|
| gptkbp:orthologInMouse |
Mll1
|
| gptkbp:proteinFamily |
SET domain
CXXC domain FYRC domain FYRN domain PHD finger AT-hook domain |
| gptkbp:translocationPartner |
gptkb:CBL
gptkb:CREBBP gptkb:ENL gptkb:ELL SEPT5 MLLT3 AF4 ELL2 GAS7 AF10 AF6 AF9 EPS15 MLLT1 MLLT10 MLLT11 MLLT4 MLLT6 SEPT11 SEPT12 SEPT14 SEPT15 SEPT16 SEPT18 SEPT19 SEPT20 SEPT21 SEPT22 SEPT23 SEPT24 SEPT25 SEPT26 SEPT27 SEPT28 SEPT29 SEPT30 SEPT31 SEPT32 SEPT33 SEPT34 SEPT35 SEPT36 SEPT37 SEPT38 SEPT39 SEPT40 SEPT41 SEPT42 SEPT43 SEPT44 SEPT45 SEPT46 SEPT47 SEPT48 SEPT49 SEPT50 SEPT51 SEPT52 SEPT53 SEPT54 SEPT55 SEPT56 SEPT57 SEPT58 SEPT59 SEPT6 SEPT60 SEPT9 |
| gptkbp:UniProtID |
Q03164
|
| gptkbp:bfsParent |
gptkb:chromosome_11q23
gptkb:chromosome_11q23.1 gptkb:11q23.1 |
| gptkbp:bfsLayer |
8
|