R-spondin 2

R-spondin 2 (RSPO2) is a protein that in humans is encoded by the RSPO2 gene. It is a member of the R-spondin family, which are secreted ligands of the Wnt signaling pathway.

Function

R-spondin 2 is a secreted activator protein with two cysteine-rich, furin-like domains. The encoded protein is important in the regulation of morphogenesis and cytodifferentiation. This protein acts in the Wnt signaling pathway and is thought to be a major player in the development of tissue and organ polarity, asymmetric cell division, and cell proliferation.

Clinical significance

Mutations in this gene have been associated with tetra-amelia syndrome. This is a rare autosomal recessive disorder characterized by the absence of all four limbs. Further studies are needed to confirm the precise role of this gene in this condition.

See also

• R-spondin
• Wnt signaling pathway
• Tetra-amelia syndrome

External links

• GeneCards: RSPO2