Disease-gene associations mined from literature

Literature associating NPHP4 and benign recurrent intrahepatic cholestasis 2

NPHP4 [ENSP00000367398]

Nephronophthisis 4; Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling. Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1- dependent phosphorylation and localization of WWTR1/TAZ.

Synonyms:  NPHP4,  NPHP4p,  hNPHP4,  D6RA06,  O75161 ...

Linkouts:  STRING  Pharos  UniProt  OMIM