RSPO4

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]

Description

R-spondin 4

Tissue specificity

Tissue enhanced (brain, lung)

Predicted location

Secreted in other tissues

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

20 (958452 - 1002311)

Ensembl ID

ENSG00000101282  (ver. 103.38)

Orthologs

Mouse Rspo4: ENSMUSG00000032852

UniProt

Q2I0M5

neXtProt

NX_Q2I0M5

Human splice variants
Mouse splice variants

Protein structure