Disease-gene associations mined from literature

Literature associating MAST2 and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

MAST2 [ENSP00000354671]

Microtubule-associated serine/threonine-protein kinase 2; Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity); PDZ domain containing

Synonyms:  MAST2,  MAST2p,  hMAST2,  DKFZP434N0810,  MAST2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM