Aliases for RSPO4 Gene
External Ids for RSPO4 Gene
Previous HGNC Symbols for RSPO4 Gene
Previous GeneCards Identifiers for RSPO4 Gene
This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
GeneCards Summary for RSPO4 Gene
RSPO4 (R-Spondin 4) is a Protein Coding gene. Diseases associated with RSPO4 include anonychia congenita and isolated congenital anonychia. Among its related pathways are Signaling by GPCR and Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways. GO annotations related to this gene include heparin binding and G-protein coupled receptor binding. An important paralog of this gene is RSPO3.
UniProtKB/Swiss-Prot for RSPO4 Gene
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.