Aliases for ASH2L Gene
External Ids for ASH2L Gene
Previous HGNC Symbols for ASH2L Gene
Previous GeneCards Identifiers for ASH2L Gene
GeneCards Summary for ASH2L Gene
ASH2L (ASH2 Like, Histone Lysine Methyltransferase Complex Subunit) is a Protein Coding gene. Diseases associated with ASH2L include Kleefstra Syndrome 1 and Kabuki Syndrome 1. 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 methyltransferase activity (H3-K4 specific).
UniProtKB/Swiss-Prot Summary for ASH2L Gene
Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis. In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653).