Statements (147)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:KMT2A
Mixed-Lineage Leukemia gene |
| gptkbp:associatedWith |
gptkb:acute_myeloid_leukemia
leukemia |
| gptkbp:discoveredBy |
researchers studying leukemia translocations
|
| gptkbp:encodes |
Histone-lysine N-methyltransferase 2A
|
| gptkbp:Entrez_Gene_ID |
4297
ENSG00000118058 |
| gptkbp:firstDescribed |
1991
|
| gptkbp:function |
regulation of gene expression
histone methylation |
| gptkbp:fusionPartners |
gptkb:CREBBP
gptkb:EP300 gptkb:ENL gptkb:CBP gptkb:PICALM gptkb:ELL gptkb:ABI1 gptkb:EEN SEPT5 MLLT3 AF4 LAF4 GAS7 AF10 AF6 AF9 EPS15 MLLT1 MLLT10 MLLT11 MLLT4 MLLT4IP MLLT6 SEPT100 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 SEPT61 SEPT62 SEPT63 SEPT64 SEPT65 SEPT66 SEPT67 SEPT68 SEPT69 SEPT70 SEPT71 SEPT72 SEPT73 SEPT74 SEPT75 SEPT76 SEPT77 SEPT78 SEPT79 SEPT80 SEPT81 SEPT82 SEPT83 SEPT84 SEPT85 SEPT86 SEPT87 SEPT88 SEPT89 SEPT9 SEPT90 SEPT91 SEPT92 SEPT93 SEPT94 SEPT95 SEPT96 SEPT97 SEPT98 SEPT99 |
| gptkbp:HGNC_ID |
HGNC:7132
|
| https://www.w3.org/2000/01/rdf-schema#label |
MLL gene
|
| gptkbp:involvedIn |
epigenetic regulation
developmental processes |
| gptkbp:locatedOnChromosome |
gptkb:11q23
|
| gptkbp:mutationAssociatedWith |
translocation
fusion gene formation |
| gptkbp:OMIM |
159555
|
| gptkbp:orthologInMouse |
Mll1
|
| gptkbp:proteinFamily |
SET domain
CXXC domain FYRC domain FYRN domain PHD finger AT-hook motif |
| gptkbp:UniProtID |
Q03164
|
| gptkbp:bfsParent |
gptkb:chromosome_11q23
gptkb:chromosome_11q23.1 gptkb:AFX_(FOXO4) gptkb:11q23.1 gptkb:11q23 |
| gptkbp:bfsLayer |
8
|