DISEASES

Disease-gene associations mined from literature

Literature associating RSPO2 and craniodiaphyseal dysplasia

RSPO2 [ENSP00000276659]

Roof plate-specific spondin-2; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Probably also acts as a ligand for frizzled and LRP receptors; Endogenous ligands

Synonyms:  RSPO2,  RSPO2p,  hRSPO2,  B3KVP3,  E5RGU9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM