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	EBV
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]

Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section

ID	PMID	Mutation	Gene/Protein/Region	Encoding Gene/Protein	Disease	Description	Detail
1	30546078	S654P	BBLF2/BBLF3	BBLF2/BBLF3	Lymphoma, Extranodal NK-T-Cell	R L T	View
2	30546078	A1289T	BNRF1	BNRF1	Lymphoma, Extranodal NK-T-Cell	R L T	View

Data ID	Experiment type	Sample number	Platform
GSE42867	Expression array	12	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
C   GSE246060	Chip-seq	26	Illumina NovaSeq 6000 (Homo sapiens)
GSE45919	Expression array	24	Illumina HumanHT-12 V4.0 expression beadchip
C   GSE198334	Chip-seq	4	Illumina NextSeq 500 (Homo sapiens)
GSE223328	Expression array	16	Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version]
GSE208281	RNA-seq	50	Illumina NextSeq 500 (Homo sapiens)
GSE100458	Expression array	14	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array [CDF: Brainarray HGU133Plus2_Hs_ENTREZG_v21]
GSE165194	RNA-seq	3	Illumina NextSeq 500 (Homo sapiens)
C   GSE246059	ATAC-seq	8	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE177046	RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
C   GSE225248	Chip-seq	12	Illumina NextSeq 500 (Homo sapiens)
GSE102203	Expression array	10	[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [probe set (exon) version]
GSE85599	Expression array	17	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE12452	Expression array	41	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
GSE58240	Expression array	32	Illumina HumanHT-12 V4.0 expression beadchip
GSE181906	RNA-seq	24	Illumina NovaSeq 6000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE246060 - KMT2D peak across samples

Peak Plot

> Dataset: GSE198334 - KMT2D peak across samples

Peak Plot

> Dataset: GSE246059 - KMT2D peak across samples

Peak Plot

> Dataset: GSE225248 - KMT2D peak across samples

Peak Plot