KMT2D
Information KMT2D
- Description
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]
- Full Name
lysine methyltransferase 2D
- Source NCBI
ReMap Statistics
- Datasets
- 1
- Biotypes
- 1
- Peaks
- 6,231
- Non-redundant peaks
- 6,231
TF Classification
- Super Class
- NA
- Class
- NA
- Familly
- NA
- Sub Familly
- NA
Source TFClass
External IDs
- JASPAR
- Ensembl
- ENSG00000167548
- UniProt
- O14686
- Genevisible
- O14686
- RefSeq
- NM_003482
- Aliases
- AAD10; ALR; CAGL114; KABUK1; KMS; MLL2; MLL4; TNRC21