DISEASES

Disease-gene associations mined from literature

Literature associating WDFY2 and alexia

WDFY2 [ENSP00000298125]

WD repeat and FYVE domain-containing protein 2; Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 . Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti- adipogenetic transcription factor FOXO1 by the kinase AKT1 . Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By similarity). Participates in transferrin receptor endocytosis . ECO:0000269|PubMed:16873553, ECO:0000269|PubMed:17313651,

Synonyms:  WDFY2,  WDFY2p,  hWDFY2,  A0A087WZX3,  Q96P53 ...

Linkouts:  STRING  Pharos  UniProt  OMIM