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)
End	1,002,311 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	151,716,588 bp
RNA expression pattern
	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
	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
	343637
	228770
	ENSG00000101282
	ENSMUSG00000032852
	Q2I0M5
	Q8BJ73
	NM_001029871; NM_001040007
	NM_001040689
	NP_001025042; NP_001035096
	NP_001035779
	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].

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000101282 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032852 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: R-spondin 4". Retrieved 2012-07-09.

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.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000101282 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032852 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: R-spondin 4". Retrieved 2012-07-09.

R-spondin 4

References

Further reading