Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
MLL3
|
| gptkbp:associatedWith |
developmental disorders
tumor suppression |
| gptkbp:discoveredBy |
human genome project
|
| gptkbp:domain |
SET domain
FYRC domain FYRN domain PHD finger |
| gptkbp:encodes |
Lysine methyltransferase 2C
|
| gptkbp:Entrez_Gene_ID |
ENSG00000167548
58508 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
histone methyltransferase
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:7133
|
| gptkbp:involvedIn |
epigenetic regulation
transcriptional coactivation |
| gptkbp:length |
4911 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7q36.1
|
| gptkbp:mutationAssociatedWith |
gptkb:intellectual_disability
gptkb:cancer gptkb:Kabuki_syndrome nonsense missense frameshift splice site |
| gptkbp:OMIM |
606833
|
| gptkbp:orthologInMouse |
Kmt2c
|
| gptkbp:regulates |
gene expression
H3K4 methylation |
| gptkbp:UniProtID |
Q8NEZ4
|
| gptkbp:bfsParent |
gptkb:7q34
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
KMT2C
|