35ug | pdb_000035ug
From Proteopedia
Human DVL2 PDZ domain in complex with Vangl2
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Structural highlights
DiseaseVANG2_HUMAN Isolated anencephaly;Isolated exencephaly. The disease is caused by variants affecting the gene represented in this entry. FunctionDVL2_HUMAN Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity).[1] VANG2_HUMAN 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).[UniProtKB:Q91ZD4] References
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This page was last modified 08:25, 16 September 2026.