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 Methyltransferase 2D) is a Protein Coding gene. Diseases associated with KMT2D include Kabuki Syndrome 1 and Complement Component C1s Deficiency. Among its related pathways are Signaling by Wnt and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (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 Summary 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.