| 释义 |
- Function
- Clinical significance
- References
- Further reading
- External links
{{Infobox_gene}}Tyrosine-protein kinase transmembrane receptor ROR2 also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein that in humans is encoded by the ROR2 gene located on position 9 of the long arm of chromosome 9.[1][2][3] This protein is responsible for aspects of bone and cartilage growth. It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family. Function The protein encoded by this gene is a receptor tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development.[1] Clinical significance Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.[1] References 1. ^1 2 {{cite web | title = Entrez Gene: receptor tyrosine kinase-like orphan receptor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4920| accessdate = }}
2. ^{{cite journal |vauthors=Masiakowski P, Carroll RD | title = A novel family of cell surface receptors with tyrosine kinase-like domain | journal = J. Biol. Chem. | volume = 267 | issue = 36 | pages = 26181–90 |date=December 1992 | pmid = 1334494 | doi = | url = | issn = }}
3. ^{{cite journal |vauthors=Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO | title = Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B | journal = Nat. Genet. | volume = 24 | issue = 3 | pages = 275–8 |date=March 2000 | pmid = 10700182 | doi = 10.1038/73495 | url = | issn = }}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Oguri M, Kato K, Yokoi K, etal |title=Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. |journal=Am. J. Hypertens. |volume=23 |issue= 1 |pages= 70–7 |year= 2010 |pmid= 19851296 |doi= 10.1038/ajh.2009.190 }}
- {{cite journal |vauthors=Schwarzer W, Witte F, Rajab A, etal |title=A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. |journal=Hum. Mol. Genet. |volume=18 |issue= 21 |pages= 4013–21 |year= 2009 |pmid= 19640924 |doi= 10.1093/hmg/ddp345 }}
- {{cite journal |vauthors=Wright TM, Rathmell WK |title=Identification of Ror2 as a hypoxia-inducible factor target in von Hippel-Lindau-associated renal cell carcinoma. |journal=J. Biol. Chem. |volume=285 |issue= 17 |pages= 12916–24 |year= 2010 |pmid= 20185829 |doi= 10.1074/jbc.M109.073924 |pmc=2857057}}
- {{cite journal |vauthors=Forsman M, Pääkkönen V, Tjäderhane L, etal |title=The expression of myoglobin and ROR2 protein in Dupuytren's disease. |journal=J. Surg. Res. |volume=146 |issue= 2 |pages= 271–5 |year= 2008 |pmid= 17996904 |doi= 10.1016/j.jss.2007.06.022 }}
- {{cite journal |vauthors=Sammar M, Sieber C, Knaus P |title=Biochemical and functional characterization of the Ror2/BRIb receptor complex. |journal=Biochem. Biophys. Res. Commun. |volume=381 |issue= 1 |pages= 1–6 |year= 2009 |pmid= 19135982 |doi= 10.1016/j.bbrc.2008.12.162 }}
- {{cite journal |vauthors=Yerges LM, Klei L, Cauley JA, etal |title=High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. |journal=J. Bone Miner. Res. |volume=24 |issue= 12 |pages= 2039–49 |year= 2009 |pmid= 19453261 |doi= 10.1359/jbmr.090524 |pmc=2791518}}
- {{cite journal |vauthors=O'Connell MP, Fiori JL, Xu M, etal |title=The orphan tyrosine kinase receptor, ROR2, mediates Wnt5A signaling in metastatic melanoma. |journal=Oncogene |volume=29 |issue= 1 |pages= 34–44 |year= 2010 |pmid= 19802008 |doi= 10.1038/onc.2009.305 |pmc=2803338}}
- {{cite journal |vauthors=Morioka K, Tanikawa C, Ochi K, etal |title=Orphan receptor tyrosine kinase ROR2 as a potential therapeutic target for osteosarcoma. |journal=Cancer Sci. |volume=100 |issue= 7 |pages= 1227–33 |year= 2009 |pmid= 19486338 |doi= 10.1111/j.1349-7006.2009.01165.x }}
- {{cite journal |vauthors=Enomoto M, Hayakawa S, Itsukushima S, etal |title=Autonomous regulation of osteosarcoma cell invasiveness by Wnt5a/Ror2 signaling. |journal=Oncogene |volume=28 |issue= 36 |pages= 3197–208 |year= 2009 |pmid= 19561643 |doi= 10.1038/onc.2009.175 }}
- {{cite journal |vauthors=Patton MA, Afzal AR |title=Robinow syndrome. |journal=J. Med. Genet. |volume=39 |issue= 5 |pages= 305–10 |year= 2002 |pmid= 12011143 |doi= 10.1136/jmg.39.5.305 |pmc=1735132}}
- {{cite journal |vauthors=Liu Y, Rubin B, Bodine PV, Billiard J |title=Wnt5a induces homodimerization and activation of Ror2 receptor tyrosine kinase. |journal=J. Cell. Biochem. |volume=105 |issue= 2 |pages= 497–502 |year= 2008 |pmid= 18615587 |doi= 10.1002/jcb.21848 }}
- {{cite journal |vauthors=Akbarzadeh S, Wheldon LM, Sweet SM, etal |title=The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. |journal=PLoS ONE |volume=3 |issue= 3 |pages= e1873 |year= 2008 |pmid= 18365018 |doi= 10.1371/journal.pone.0001873 |pmc=2268744}} {{open access}}
- {{cite journal |vauthors=Brunetti-Pierri N, Del Gaudio D, Peters H, etal |title=Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. |journal=Am. J. Med. Genet. A |volume=146A |issue= 21 |pages= 2804–9 |year= 2008 |pmid= 18831060 |doi= 10.1002/ajmg.a.32530 }}
- {{cite journal |vauthors=Pacheco II, Macleod RJ |title=CaSR stimulates secretion of Wnt5a from colonic myofibroblasts to stimulate CDX2 and sucrase-isomaltase using Ror2 on intestinal epithelia. |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=295 |issue= 4 |pages= G748-59 |year= 2008 |pmid= 18703641 |doi= 10.1152/ajpgi.00560.2007 }}
- {{cite journal |vauthors=Yoshida T, Kato K, Yokoi K, etal |title=Association of gene polymorphisms with chronic kidney disease in Japanese individuals. |journal=Int. J. Mol. Med. |volume=24 |issue= 4 |pages= 539–47 |year= 2009 |pmid= 19724895 |doi= 10.3892/ijmm_00000263}}
- {{cite journal |vauthors=Kjaer KW, Tiner M, Cingoz S, etal |title=A novel subtype of distal symphalangism affecting only the 4th finger. |journal=Am. J. Med. Genet. A |volume=149A |issue= 7 |pages= 1571–3 |year= 2009 |pmid= 19533773 |doi= 10.1002/ajmg.a.32905 }}
- {{cite journal |vauthors=Wright TM, Brannon AR, Gordan JD, etal |title=Ror2, a developmentally regulated kinase, promotes tumor growth potential in renal cell carcinoma. |journal=Oncogene |volume=28 |issue= 27 |pages= 2513–23 |year= 2009 |pmid= 19448672 |doi= 10.1038/onc.2009.116 |pmc=2771692}}
- {{cite journal |vauthors=Li C, Chen H, Hu L, etal |title=Ror2 modulates the canonical Wnt signaling in lung epithelial cells through cooperation with Fzd2. |journal=BMC Mol. Biol. |volume=9 |issue= |pages= 11 |year= 2008 |pmid= 18215320 |doi= 10.1186/1471-2199-9-11 |pmc=2254434}} {{open access}}
- {{cite journal |vauthors=Lv D, Luo Y, Yang W, etal |title=A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. |journal=J. Hum. Genet. |volume=54 |issue= 7 |pages= 422–5 |year= 2009 |pmid= 19461659 |doi= 10.1038/jhg.2009.48 }}
- {{cite journal |vauthors=Yoshida T, Kato K, Yokoi K, etal |title=Association of genetic variants with hemorrhagic stroke in Japanese individuals. |journal=Int. J. Mol. Med. |volume=25 |issue= 4 |pages= 649–56 |year= 2010 |pmid= 20198315 |doi= 10.3892/ijmm_00000388}}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rob GeneReviews/NCBI/NIH/UW entry on ROR2-Related Robinow Syndrome]
- {{GeneCard|ROR2}}
- [https://web.archive.org/web/20060316100721/http://www.molgen.mpg.de/research/mundlos/projects_ror2.html ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome]
{{NLM content}}{{Tyrosine kinases}}{{Enzymes}}{{Portal bar|Molecular and Cellular Biology|border=no}}{{DEFAULTSORT:Ror2}} 1 : Tyrosine kinase receptors |