DISEASES

Disease-gene associations mined from literature

Literature associating U2AF35 and severe congenital neutropenia

U2AF35 [ENSP00000485022]

U2 small nuclear RNA auxiliary factor 1; Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron; RNA binding motif containing

Synonyms:  U2AF1,  U2AF1p,  hU2AF1,  Q69YM7,  U2AF1L5 ...

Linkouts:  STRING  Pharos