DISEASES

Disease-gene associations mined from literature

Literature associating ASTN2 and Bardet-Biedl syndrome

ASTN2 [ENSP00000354504]

Astrotactin 2; Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5- trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6); Fibronectin type III domain containing

Synonyms:  ASTN2,  ASTN2p,  hASTN2,  B2RCB6,  B7ZKP3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM