protein-coding gene of Homo sapiens KMT2D 12 12q13.12 20140408 8085 9606 AAD10 ALR Bin Zhao, Yue Liu, Oliver He CAGL114 Ensembl:ENSG00000167548 GO_0001555 (EC: ISS); GO_0001701 (EC: IEA); GO_0003677 (EC: NAS, PMID: 9247308); GO_0005515 (EC: IPI, PMID: 12482968); GO_0005634 (EC: NAS, PMID: 9247308); GO_0006342 (EC: ISS); GO_0006351 (EC: IEA); GO_0006355 (EC: NAS, PMID: 9247308); GO_0008270 (EC: IEA); GO_0008284 (EC: IMP, PMID: 16603732); GO_0018024 (EC: IEA); GO_0033148 (EC: IMP, PMID: 16603732); GO_0035097 (EC: IPI, PMID: 14992727); GO_0043627 (EC: IDA, PMID: 16603732); GO_0044212 (EC: IDA, PMID: 16603732); GO_0045944 (EC: IMP, PMID: 16603732); GO_0048477 (EC: ISS); GO_0051568 (EC: ISS) HGNC:7133 HPRD:03664 KABUK1 KMS KMT2D MIM:602113 MLL2 MLL4 Official from a nomenclature committee Other designations: ALL1-related protein|Kabuki make-up syndrome|Kabuki mental retardation syndrome|histone-lysine N-methyltransferase 2D|histone-lysine N-methyltransferase MLL2|lysine N-methyltransferase 2D|myeloid/lymphoid or mixed-lineage leukemia 2|trinucleotide repeat containing 21 PMID: 8595911; 8896557; 9225980; 9247308; 10737800; 12477932; 12482968; 14992727; 15231748; 15302935; 15960974; 16159877; 16199523; 16510874; 16510875; 16603732; 16951254; 17081983; 17178841; 17500065; 17761849; 17925232; 18026121; 18082152; 19219072; 19221051; 19556342; 19850743; 20516061; 20711175; 20808952; 20937768; 21139048; 21280141; 21447625; 21502505; 21658225; 21671394; 21683083; 21796119; 21882399; 21890473; 22126750; 22183980; 22266653; 22665483; 22829784; 22840376; 22901312; 22939629; 23045699; 23129768; 23130995; 23131014; 23184418; 23192982; 23754336; 23913813; 23995757; 24250222; 24323028; 24368734 TNRC21 Vega:OTTHUMG00000166524 WEB: http://www.ncbi.nlm.nih.gov/gene lysine (K)-specific methyltransferase 2D lysine (K)-specific methyltransferase 2D protein-coding