Disease-gene associations mined from literature

Literature associating VANGL2 and tethered spinal cord syndrome

VANGL2 [ENSP00000357040]

Vang-like protein 2; Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity).

Synonyms:  VANGL2,  VANGL2p,  hVANGL2,  Q9ULK5,  Q9ULK5p ...

Linkouts:  STRING  Pharos  UniProt  OMIM