| Primary Identifier | IPR041964 | Type | Domain |
| Short Name | KMT2D_ePHD2 |
| description | The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2D, also known as ALR or MLL4, is a fourth human homologue of Drosophila trithorax, located on chromosome 12 []. KMT2D enzymatically generates trimethylated histone H3 at Lys 4 (H3K4me3). It acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription []. It is also a part of activating signal cointegrator-2 (ASC-2)-containing complex (ASCOM) that contains the transcriptional coactivator nuclear receptor coactivator 6 (NCOA6), KMT2C and KMT2D. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2D contains the catalytic domain SET, five PHD fingers, two ePHD fingers, a RING finger, an HMG (high-mobility group)-binding motif, and two FY-rich regions.Mutations in the KMT2D gene have been linked to Kabuki syndrome [, ].This entry represents the second ePHD finger of Histone-lysine N-methyltransferase 2D (KMT2D). |
