fbpx
Wikipedia

R-spondin 2

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]

RSPO2
Identifiers
AliasesRSPO2, CRISTIN2, R-spondin 2, TETAMS2, HHRRD
External IDsOMIM: 610575 MGI: 1922667 HomoloGene: 18235 GeneCards: RSPO2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282863
NM_178565
NM_001317942

NM_172815
NM_001357956
NM_001357957

RefSeq (protein)

NP_001269792
NP_001304871
NP_848660

NP_766403
NP_001344885
NP_001344886

Location (UCSC)Chr 8: 107.9 – 108.08 MbChr 15: 42.88 – 43.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147655 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: R-spondin 2".
  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.
  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.
  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.
  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.

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


spondin, also, known, roof, plate, specific, spondin, secreted, protein, that, humans, that, encoded, rspo2, gene, rspo2identifiersaliasesrspo2, cristin2, tetams2, hhrrdexternal, idsomim, 610575, 1922667, homologene, 18235, genecards, rspo2gene, location, huma. 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 RSPO2IdentifiersAliasesRSPO2 CRISTIN2 R spondin 2 TETAMS2 HHRRDExternal IDsOMIM 610575 MGI 1922667 HomoloGene 18235 GeneCards RSPO2Gene location Human Chr Chromosome 8 human 1 Band8q23 1Start107 899 316 bp 1 End108 083 642 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 B3 1 15 16 73 cMStart42 884 190 bp 2 End43 034 222 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocytegastric mucosaprefrontal cortexAchilles tendonBrodmann area 9right lungcingulate gyrusrectumgallbladderpostcentral gyrusTop expressed insecondary oocytefacial motor nucleusiriscalvariaJacobson s organmotor neuronabdominal wallsubiculumRegion I of hippocampus properciliary bodyMore reference expression dataBioGPSn aGene ontologyMolecular functionheparin binding signaling receptor binding protein binding frizzled bindingCellular componentextracellular region cell surface extracellular spaceBiological processpositive 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 developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez340419239405EnsemblENSG00000147655ENSMUSG00000051920UniProtQ6UXX9Q8BFU0RefSeq mRNA NM 001282863NM 178565NM 001317942NM 172815NM 001357956NM 001357957RefSeq protein NP 001269792NP 001304871NP 848660NP 766403NP 001344885NP 001344886Location UCSC Chr 8 107 9 108 08 MbChr 15 42 88 43 03 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse 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 edit a b c GRCh38 Ensembl release 89 ENSG00000147655 Ensembl May 2017 a b c 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 Lefevre 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 nbsp This article on a gene on human chromosome 8 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title R spondin 2 amp oldid 1161353920, wikipedia, wiki, book, books, library,

article

, read, download, free, free download, mp3, video, mp4, 3gp, jpg, jpeg, gif, png, picture, music, song, movie, book, game, games.