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
|
HTLV1 |
|
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 |
| 6010957 |
chr12 |
23 |
3 |
1 |
27 |
View |
| 6016998 |
chr12 |
10 |
1 |
0 |
11 |
View |
Target gene [KMT2D] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - KMT2D peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
