DISEASES

Disease-gene associations mined from literature

Literature associating MSL2 and atrial heart septal defect 3

MSL2 [ENSP00000311827]

Male-specific lethal 2 homolog (Drosophila); Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at lysine 16 which is implicated in the formation of higher-order chromatin structure. Acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A. This activity is greatly enhanced by heterodimerization with MSL1. H2B ubiquitination in turn stimulates histine H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1.

Synonyms:  MSL2,  MSL2p,  hMSL2,  C9IZ03,  C9IZG7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM