ROR2: Difference between revisions
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== Clinical significance == | == Clinical significance == | ||
Mutations in this gene can cause [[brachydactyly type B]], a skeletal disorder characterized by [[hypoplasia]]/[[aplasia]] of distal [[ | Mutations in this gene can cause [[brachydactyly type B]], a skeletal disorder characterized by [[hypoplasia]]/[[aplasia]] of distal [[Phalanx bone|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.<ref name="entrez"/> | ||
==References== | == References == | ||
{{reflist}} | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{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=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 }} | ||
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*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rob GeneReviews/NCBI/NIH/UW entry on ROR2-Related Robinow Syndrome] | *[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}} | * {{GeneCard|ROR2}} | ||
* [http://www.molgen.mpg.de/research/mundlos/projects_ror2.html ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome] | * [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}} | {{NLM content}} | ||
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{{DEFAULTSORT:Ror2}} | {{DEFAULTSORT:Ror2}} | ||
[[Category:Tyrosine kinase receptors]] | [[Category:Tyrosine kinase receptors]] | ||
Latest revision as of 07:29, 10 January 2019
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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
- ↑ 1.0 1.1 1.2 "Entrez Gene: receptor tyrosine kinase-like orphan receptor 2".
- ↑ Masiakowski P, Carroll RD (December 1992). "A novel family of cell surface receptors with tyrosine kinase-like domain". J. Biol. Chem. 267 (36): 26181–90. PMID 1334494.
- ↑ Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO (March 2000). "Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B". Nat. Genet. 24 (3): 275–8. doi:10.1038/73495. PMID 10700182.
Further reading
- Oguri M, Kato K, Yokoi K, et al. (2010). "Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals". Am. J. Hypertens. 23 (1): 70–7. doi:10.1038/ajh.2009.190. PMID 19851296.
- Schwarzer W, Witte F, Rajab A, et al. (2009). "A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes". Hum. Mol. Genet. 18 (21): 4013–21. doi:10.1093/hmg/ddp345. PMID 19640924.
- Wright TM, Rathmell WK (2010). "Identification of Ror2 as a hypoxia-inducible factor target in von Hippel-Lindau-associated renal cell carcinoma". J. Biol. Chem. 285 (17): 12916–24. doi:10.1074/jbc.M109.073924. PMC 2857057. PMID 20185829.
- Forsman M, Pääkkönen V, Tjäderhane L, et al. (2008). "The expression of myoglobin and ROR2 protein in Dupuytren's disease". J. Surg. Res. 146 (2): 271–5. doi:10.1016/j.jss.2007.06.022. PMID 17996904.
- Sammar M, Sieber C, Knaus P (2009). "Biochemical and functional characterization of the Ror2/BRIb receptor complex". Biochem. Biophys. Res. Commun. 381 (1): 1–6. doi:10.1016/j.bbrc.2008.12.162. PMID 19135982.
- Yerges LM, Klei L, Cauley JA, et al. (2009). "High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men". J. Bone Miner. Res. 24 (12): 2039–49. doi:10.1359/jbmr.090524. PMC 2791518. PMID 19453261.
- O'Connell MP, Fiori JL, Xu M, et al. (2010). "The orphan tyrosine kinase receptor, ROR2, mediates Wnt5A signaling in metastatic melanoma". Oncogene. 29 (1): 34–44. doi:10.1038/onc.2009.305. PMC 2803338. PMID 19802008.
- Morioka K, Tanikawa C, Ochi K, et al. (2009). "Orphan receptor tyrosine kinase ROR2 as a potential therapeutic target for osteosarcoma". Cancer Sci. 100 (7): 1227–33. doi:10.1111/j.1349-7006.2009.01165.x. PMID 19486338.
- Enomoto M, Hayakawa S, Itsukushima S, et al. (2009). "Autonomous regulation of osteosarcoma cell invasiveness by Wnt5a/Ror2 signaling". Oncogene. 28 (36): 3197–208. doi:10.1038/onc.2009.175. PMID 19561643.
- Patton MA, Afzal AR (2002). "Robinow syndrome". J. Med. Genet. 39 (5): 305–10. doi:10.1136/jmg.39.5.305. PMC 1735132. PMID 12011143.
- Liu Y, Rubin B, Bodine PV, Billiard J (2008). "Wnt5a induces homodimerization and activation of Ror2 receptor tyrosine kinase". J. Cell. Biochem. 105 (2): 497–502. doi:10.1002/jcb.21848. PMID 18615587.
- Akbarzadeh S, Wheldon LM, Sweet SM, et al. (2008). "The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src". PLoS ONE. 3 (3): e1873. doi:10.1371/journal.pone.0001873. PMC 2268744. PMID 18365018. open access publication – free to read
- Brunetti-Pierri N, Del Gaudio D, Peters H, et al. (2008). "Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation". Am. J. Med. Genet. A. 146A (21): 2804–9. doi:10.1002/ajmg.a.32530. PMID 18831060.
- Pacheco II, Macleod RJ (2008). "CaSR stimulates secretion of Wnt5a from colonic myofibroblasts to stimulate CDX2 and sucrase-isomaltase using Ror2 on intestinal epithelia". Am. J. Physiol. Gastrointest. Liver Physiol. 295 (4): G748–59. doi:10.1152/ajpgi.00560.2007. PMID 18703641.
- Yoshida T, Kato K, Yokoi K, et al. (2009). "Association of gene polymorphisms with chronic kidney disease in Japanese individuals". Int. J. Mol. Med. 24 (4): 539–47. doi:10.3892/ijmm_00000263. PMID 19724895.
- Kjaer KW, Tiner M, Cingoz S, et al. (2009). "A novel subtype of distal symphalangism affecting only the 4th finger". Am. J. Med. Genet. A. 149A (7): 1571–3. doi:10.1002/ajmg.a.32905. PMID 19533773.
- Wright TM, Brannon AR, Gordan JD, et al. (2009). "Ror2, a developmentally regulated kinase, promotes tumor growth potential in renal cell carcinoma". Oncogene. 28 (27): 2513–23. doi:10.1038/onc.2009.116. PMC 2771692. PMID 19448672.
- Li C, Chen H, Hu L, et al. (2008). "Ror2 modulates the canonical Wnt signaling in lung epithelial cells through cooperation with Fzd2". BMC Mol. Biol. 9: 11. doi:10.1186/1471-2199-9-11. PMC 2254434. PMID 18215320. open access publication – free to read
- Lv D, Luo Y, Yang W, et al. (2009). "A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family". J. Hum. Genet. 54 (7): 422–5. doi:10.1038/jhg.2009.48. PMID 19461659.
- Yoshida T, Kato K, Yokoi K, et al. (2010). "Association of genetic variants with hemorrhagic stroke in Japanese individuals". Int. J. Mol. Med. 25 (4): 649–56. doi:10.3892/ijmm_00000388. PMID 20198315.
External links
- GeneReviews/NCBI/NIH/UW entry on ROR2-Related Robinow Syndrome
- GeneCard for ROR2
- ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome
This article incorporates text from the United States National Library of Medicine, which is in the public domain.