World Library  
Flag as Inappropriate
Email this Article

Ror2

Article Id: WHEBN0005219082
Reproduction Date:

Title: Ror2  
Author: World Heritage Encyclopedia
Language: English
Subject: Brachydactyly, Tyrosine kinase, Cell surface receptor deficiencies, Donnai–Barrow syndrome, Piebaldism
Collection: Human Genes
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Ror2

Receptor tyrosine kinase-like orphan receptor 2
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; BDB; BDB1; NTRKR2
External IDs IUPHAR: GeneCards:
EC number
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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.

Contents

  • Function 1
  • Clinical significance 2
  • References 3
  • Further reading 4
  • External links 5

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. ^ a b c "Entrez Gene: receptor tyrosine kinase-like orphan receptor 2". 
  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.  
  3. ^ 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.  

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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Enomoto M, Hayakawa S, Itsukushima S, et al. (2009). "Autonomous regulation of osteosarcoma cell invasiveness by Wnt5a/Ror2 signaling.". Oncogene 28 (36): 3197–208.  
  • Patton MA, Afzal AR (2002). "Robinow syndrome.". J. Med. Genet. 39 (5): 305–10.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  

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.

This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.