Protein and coding gene in humans
RSPO2 |
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Identifiers |
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Aliases | RSPO2, CRISTIN2, R-spondin 2, TETAMS2, HHRRD |
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External IDs | OMIM: 610575; MGI: 1922667; HomoloGene: 18235; GeneCards: RSPO2; OMA:RSPO2 - orthologs |
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Gene location (Human) |
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![Chromosome 8 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/6/60/Ideogram_human_chromosome_8.svg/300px-Ideogram_human_chromosome_8.svg.png) | Chr. | Chromosome 8 (human)[1] |
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| Band | 8q23.1 | Start | 107,899,316 bp[1] |
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End | 108,083,642 bp[1] |
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Gene location (Mouse) |
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![Chromosome 15 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/1/13/Ideogram_house_mouse_chromosome_15.svg/260px-Ideogram_house_mouse_chromosome_15.svg.png) | Chr. | Chromosome 15 (mouse)[2] |
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| Band | 15 B3.1|15 16.73 cM | Start | 42,884,190 bp[2] |
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End | 43,034,222 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - secondary oocyte
- gastric mucosa
- prefrontal cortex
- Achilles tendon
- Brodmann area 9
- right lung
- testicle
- right frontal lobe
- muscle layer of sigmoid colon
- cingulate gyrus
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| Top expressed in | - primary oocyte
- secondary oocyte
- zygote
- stroma of bone marrow
- lumbar spinal ganglion
- facial motor nucleus
- iris
- vestibular sensory epithelium
- calvaria
- Jacobson's organ
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001282863 NM_178565 NM_001317942 |
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NM_172815 NM_001357956 NM_001357957 |
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RefSeq (protein) | |
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NP_001269792 NP_001304871 NP_848660 |
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NP_766403 NP_001344885 NP_001344886 |
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Location (UCSC) | Chr 8: 107.9 – 108.08 Mb | Chr 15: 42.88 – 43.03 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ 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-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.