GENE NAME | EZH2 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000106462 |
ENTREZ ID | 2146 |
UNIPROT ACCESSION NUMBER | Q15910 |
GO MOLECULAR FUNCTION | chromatin DNA binding; protein binding; histone methyltransferase activity (H3-K27 specific); primary miRNA binding; transcription corepressor activity; histone-lysine N-methyltransferase activity; RNA polymerase II core promoter sequence-specific DNA binding; histone methyltransferase activity; promoter-specific chromatin binding; chromatin binding; protein-lysine N-methyltransferase activity; transcription corepressor binding; ribonucleoprotein complex binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-73857; hsa01100; hsa05206; R-HSA-1643685; R-HSA-5619507; R-HSA-162582; R-HSA-2559583; R-HSA-8943724; R-HSA-9006925; R-HSA-9609646; R-HSA-1257604; R-HSA-8953897; R-HSA-4839726; R-HSA-5617472; R-HSA-1266738; R-HSA-212300; R-HSA-212165; R-HSA-2559580; hsa00310; R-HSA-3247509; R-HSA-6807070; R-HSA-8953750; R-HSA-212436; R-HSA-3214841; R-HSA-5663205; R-HSA-9609690; R-HSA-2262752; R-HSA-74160 |
1 combination linked to EZH2 | OLI928 |
1 variant linked to EZH2 | EZH2:c.688A>G, p.Met230Val |
1 disease linked to EZH2 | Transposition of the great arteries |