R-spondin 2

RSPO2
Identifiers
Aliases	RSPO2, CRISTIN2, R-spondin 2, TETAMS2, HHRRD
External IDs	OMIM: 610575 MGI: 1922667 HomoloGene: 18235 GeneCards: RSPO2
Gene location (Human)
Chr.	Chromosome 8 (human)[1]
End	108,083,642 bp[1]
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)[2]
End	43,034,222 bp[2]
RNA expression pattern
	Top expressed in
	secondary oocyte; ; gastric mucosa; ; prefrontal cortex; ; Achilles tendon; ; Brodmann area 9; ; right lung; ; cingulate gyrus; ; rectum; ; gallbladder; ; postcentral gyrus;
	Top expressed in
	secondary oocyte; ; facial motor nucleus; ; iris; ; calvaria; ; Jacobson's organ; ; motor neuron; ; abdominal wall; ; subiculum; ; Region I of hippocampus proper; ; ciliary body;
	More reference expression data
	n/a
Gene ontology
Molecular function	heparin binding; signaling receptor binding; protein binding; frizzled binding;
Cellular component	extracellular region; cell surface; extracellular space;
Biological process	positive regulation of canonical Wnt signaling pathway; positive regulation of Wnt signaling pathway; bone mineralization; lung growth; dopaminergic neuron differentiation; epithelial tube branching involved in lung morphogenesis; Wnt signaling pathway; embryonic forelimb morphogenesis; negative regulation of odontogenesis of dentin-containing tooth; osteoblast differentiation; response to stimulus; trachea cartilage morphogenesis; embryonic hindlimb morphogenesis; multicellular organism development; limb development;
	Sources:Amigo / QuickGO
Orthologs
	340419
	239405
	ENSG00000147655
	ENSMUSG00000051920
	Q6UXX9
	Q8BFU0
	NM_001282863; NM_178565; NM_001317942
	NM_172815; NM_001357956; NM_001357957
	NP_001269792; NP_001304871; NP_848660
	NP_766403; NP_001344885; NP_001344886
	Wikidata
View/Edit Human	View/Edit Mouse

R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the RSPO2 gene.[5]

R-spondin 2 synergizes with canonical WNT to activate beta-catenin.[6][7] RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.[8]

In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness.[9]

In humans, recessive mutations in RSPO2 abrogate limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia with lung agenesis. [10]

References

GRCh38: Ensembl release 89: ENSG00000147655 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000051920 - 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 2".
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): 23–6. doi:10.4161/cc.5.1.2305. PMID 16357527.
Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W (October 2004). "R-Spondin2 is a secreted activator of Wnt/beta-catenin signaling and is required for Xenopus myogenesis". Developmental Cell. 7 (4): 525–34. doi:10.1016/j.devcel.2004.07.019. PMID 15469841.
Jin YR, Turcotte TJ, Crocker AL, Han XH, Yoon JK (April 2011). "The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal-mesenchymal interaction". Developmental Biology. 352 (1): 1–13. doi:10.1016/j.ydbio.2011.01.004. PMC 3089906. PMID 21237142.
Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, et al. (October 2009). "Coat variation in the domestic dog is governed by variants in three genes". Science. 326 (5949): 150–3. Bibcode:2009Sci...326..150C. doi:10.1126/science.1177808. PMC 2897713. PMID 19713490.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, et al. (May 2018). "RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6". Nature. 557 (7706): 564–569. Bibcode:2018Natur.557..564S. doi:10.1038/s41586-018-0118-y. PMID 29769720. S2CID 21712936.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000147655 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000051920 - 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 2".

[pmid16357527-6] 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): 23–6. doi:10.4161/cc.5.1.2305. PMID 16357527.

[pmid15469841-7] Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W (October 2004). "R-Spondin2 is a secreted activator of Wnt/beta-catenin signaling and is required for Xenopus myogenesis". Developmental Cell. 7 (4): 525–34. doi:10.1016/j.devcel.2004.07.019. PMID 15469841.

[pmid21237142-8] Jin YR, Turcotte TJ, Crocker AL, Han XH, Yoon JK (April 2011). "The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal-mesenchymal interaction". Developmental Biology. 352 (1): 1–13. doi:10.1016/j.ydbio.2011.01.004. PMC 3089906. PMID 21237142.

[pmid19713490-9] Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, et al. (October 2009). "Coat variation in the domestic dog is governed by variants in three genes". Science. 326 (5949): 150–3. Bibcode:2009Sci...326..150C. doi:10.1126/science.1177808. PMC 2897713. PMID 19713490.

[10] Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, et al. (May 2018). "RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6". Nature. 557 (7706): 564–569. Bibcode:2018Natur.557..564S. doi:10.1038/s41586-018-0118-y. PMID 29769720. S2CID 21712936.