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)
End	108,083,642 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	43,034,222 bp
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

Last updated May 18, 2023

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]

Related Research Articles

The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans.

WNT4 is a secreted protein that in humans is encoded by the Wnt4 gene, found on chromosome 1. It promotes female sex development and represses male sex development. Loss of function can have serious consequences, such as female to male sex reversal.

Frizzled-2(Fz-2) is a protein that in humans is encoded by the FZD2 gene.

Frizzled-9(Fz-9) is a protein that in humans is encoded by the FZD9 gene. Fz-9 has also been designated as CD349.

Dickkopf-related protein 1 is a protein that in humans is encoded by the DKK1 gene.

Protein Wnt-5a is a protein that in humans is encoded by the WNT5A gene.

Low-density lipoprotein receptor-related protein 6 is a protein that in humans is encoded by the LRP6 gene. LRP6 is a key component of the LRP5/LRP6/Frizzled co-receptor group that is involved in canonical Wnt pathway.

Protein Wnt-3a is a protein that in humans is encoded by the WNT3A gene.

Protein Wnt-7a is a protein that in humans is encoded by the WNT7A gene.

Wnt inhibitory factor 1 is a protein that in humans is encoded by the WIF1 gene. WIF1 is a lipid-binding protein that binds to Wnt proteins and prevents them from triggering signalling.

Proto-oncogene protein Wnt-3 is a protein that in humans is encoded by the WNT3 gene.

Dickkopf-related protein 2 is a protein in the Dickkopf family that in humans is encoded by the DKK2 gene.

Protein Wnt-11 is a protein that in humans is encoded by the WNT11 gene.

Protein Wnt-9a is a protein that in humans is encoded by the WNT9A gene.

R-spondin-1 is a secreted protein that in humans is encoded by the Rspo1 gene, found on chromosome 1. In humans, it interacts with WNT4 in the process of female sex development. Loss of function can cause female to male sex reversal. Furthermore, it promotes canonical WNT/β catenin signaling.

Kremen protein 1 is a protein that in humans is encoded by the KREMEN1 gene. Kremen1 is conserved in chordates including amphioxus and most vertebrate species. The protein is a type I transmembrane receptor of ligands Dickkopf1, Dickkopf2, Dickkopf3, Dickkopf4, EpCAM and Rspondin1.

R-spondin-3 is a protein that in humans is encoded by the RSPO3 gene.

Wingless-type MMTV integration site family, member 2, also known as WNT2, is a human gene.

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

Protein Wnt-9b is a protein that in humans is encoded by the WNT9B gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000147655 - Ensembl, May 2017
1 2 3 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. doi:10.1038/s41586-018-0118-y. PMID 29769720. S2CID 21712936.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000147655 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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. doi:10.1038/s41586-018-0118-y. PMID 29769720. S2CID 21712936.

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