R-spondin 4

RSPO4
Identifiers
Aliases	RSPO4, C20orf182, CRISTIN4, R-spondin 4
External IDs	OMIM: 610573; MGI: 1924467; GeneCards: RSPO4
Gene location (Human) Chr. Chromosome 20 (human) Band 20p13 Start 958,452 bp End 1,002,311 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 G3 Start 151,684,847 bp End 151,716,588 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in upper lobe of left lung hypothalamus putamen caudate nucleus nucleus accumbens right uterine tube right lung substantia nigra right lobe of thyroid gland amygdala Top expressed in muscle layer of seminal vesicle muscle layer of urethra ejaculatory duct vagina molar lamina propria of prostatic urethra prostatic epithelium muscle layer of ejaculatory duct anterior lobe of prostate lamina propria of vagina More reference expression data BioGPS n/a
Gene ontology Molecular function heparin binding frizzled binding Cellular component extracellular region extracellular space Biological process Wnt signaling pathway positive regulation of Wnt signaling pathway response to stimulus nail development positive regulation of canonical Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 343637 228770 Ensembl ENSG00000101282 ENSMUSG00000032852 UniProt Q2I0M5 Q8BJ73 RefSeq (mRNA) NM_001029871 NM_001040007 NM_001040689 RefSeq (protein) NP_001025042 NP_001035096 NP_001035779 Location (UCSC) Chr 20: 0.96 – 1 Mb Chr 2: 151.68 – 151.72 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

R-spondin 4 is a protein in humans that is encoded by the RSPO4 gene, located on chromosome 20. 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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].

Further reading

• Nakamura M, Miyachi Y (2008). "Congenital hyponychia without RSPO4 mutation". Acta Dermato-Venereologica. 88 (5): 511–512. doi:10.2340/00015555-0476. PMID 18779895.
• Chishti MS, Kausar N, Rafiq MA, Amin M, Ahmad W (March 2008). "A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family". The British Journal of Dermatology. 158 (3): 621–623. doi:10.1111/j.1365-2133.2007.08365.x. PMID 18070203. S2CID 42671434.
• Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, et al. (April 2008). "RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4". The Journal of Investigative Dermatology. 128 (4): 791–796. doi:10.1038/sj.jid.5701088. PMID 17914448.
• Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Rüschendorf F, et al. (November 2006). "The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia". Nature Genetics. 38 (11): 1245–1247. doi:10.1038/ng1883. PMID 17041604. S2CID 23404430.
• Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, et al. (January 2006). "R-Spondin proteins: a novel link to beta-catenin activation". Cell Cycle. 5 (1): 23–26. doi:10.4161/cc.5.1.2305. PMID 16357527.
• Seitz CS, van Steensel M, Frank J, Senderek J, Zerres K, Hamm H, et al. (October 2007). "The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects". The British Journal of Dermatology. 157 (4): 801–802. doi:10.1111/j.1365-2133.2007.08059.x. PMID 17596144. S2CID 873173.
• Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, et al. (December 2006). "Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia". American Journal of Human Genetics. 79 (6): 1105–1109. doi:10.1086/509789. PMC 1698700. PMID 17186469.
• Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, et al. (April 2008). "Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia". The Journal of Investigative Dermatology. 128 (4): 867–870. doi:10.1038/sj.jid.5701078. PMID 17805348.