DISEASES

Disease-gene associations mined from literature

Literature associating KMT2B and Weaver syndrome

KMT2B [ENSP00000398837]

Myeloid/lymphoid or mixed-lineage leukemia protein 4; Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation; Lysine methyltransferases

Synonyms:  KMT2B,  KMT2Bp,  hKMT2B,  Q9UMN6,  HRX2 ...

Linkouts:  STRING  Pharos  UniProt