Aliases for KMT2D Gene
External Ids for KMT2D Gene
Previous HGNC Symbols for KMT2D Gene
Previous GeneCards Identifiers for KMT2D Gene
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]
GeneCards Summary for KMT2D Gene
KMT2D (Lysine (K)-Specific Methyltransferase 2D) is a Protein Coding gene. Diseases associated with KMT2D include kabuki syndrome 1 and kmt2d-related kabuki syndrome. Among its related pathways are Lysine degradation. GO annotations related to this gene include transcription regulatory region DNA binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is KMT2C.
UniProtKB/Swiss-Prot for KMT2D Gene
Histone methyltransferase. Methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.