Gene Information
|
Gene Name
|
KMT2D |
|
Gene ID
|
8085
|
|
Gene Full Name
|
lysine methyltransferase 2D |
|
Gene Alias
|
AAD10|ALR|BCAHH|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21 |
|
Transcripts
|
ENSG00000167548
|
|
Virus
|
MCV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Cytosol;Nucleoplasm, Plasma membrane; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
O14686
|
|
HGNC ID
|
HGNC:7133
|
|
OMIM ID
|
602113 |
|
Summary
|
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] |
Target gene [KMT2D] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 7000062 |
chr12 |
169 |
3 |
0 |
172 |
View |
Target gene [KMT2D] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE147406
|
Chip-seq |
39 |
Illumina NextSeq 500 (Homo sapiens) |
|
C GSE124856
|
Chip-seq |
8 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE117988
|
scRNA-seq |
6 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE69877
|
Chip-seq |
10 |
Illumina HiSeq 2000 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens) |
|
C GSE230758
|
Chip-seq |
20 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE118056
|
scRNA-seq |
4 |
Illumina NovaSeq 6000 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE147406 - KMT2D peak across samples
|
Peak Plot
|
> Dataset: GSE124856 - KMT2D peak across samples
|
Peak Plot
|
> Dataset: GSE69877 - KMT2D peak across samples
|
Peak Plot
|
> Dataset: GSE230758 - KMT2D peak across samples
|
Peak Plot
|
|
|
MCV Target gene Detail Information
