Disease-gene associations mined from literature

Literature associating KMT2D and hypoplastic left heart syndrome

KMT2D [ENSP00000301067]

Myeloid/lymphoid or mixed-lineage leukemia protein 2; 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; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.

Synonyms:  KMT2D,  KMT2Dp,  hKMT2D,  F8VWW4,  H0YEF2 ...

Linkouts:  STRING  Pharos  UniProt