ROR2

For the 2020 video game, see Risk of Rain 2.

ROR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3ZZW, 4GT4
Identifiers
Aliases	ROR2 , BDB, BDB1, NTRKR2, receptor tyrosine kinase like orphan receptor 2
External IDs	OMIM: 602337 MGI: 1347521 HomoloGene: 55831 GeneCards: ROR2
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q22.31 Start 91,563,091 bp [1] End 91,950,228 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13 B1|13 27.68 cM Start 53,263,348 bp [2] End 53,440,160 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa canal of the cervix left uterine tube smooth muscle tissue myometrium gallbladder prostate body of stomach fundus tibia Top expressed in primitive streak external carotid artery internal carotid artery vas deferens Paneth cell dermis condyle endocardial cushion cervix somite More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity frizzled binding metal ion binding kinase activity Wnt-protein binding protein binding transmembrane receptor protein tyrosine kinase activity protein tyrosine kinase activity ATP binding coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway mitogen-activated protein kinase kinase kinase binding receptor tyrosine kinase transmembrane signaling receptor activity Cellular component integral component of membrane clathrin-coated endocytic vesicle membrane membrane plasma membrane integral component of plasma membrane cytoplasm microtubule cell surface dendrite neuronal cell body axon receptor complex Biological process somitogenesis skeletal system development cell differentiation cell fate commitment SMAD protein signal transduction phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell migration positive regulation of canonical Wnt signaling pathway regulation of canonical Wnt signaling pathway embryonic digit morphogenesis Wnt signaling pathway BMP signaling pathway multicellular organism development positive regulation of transcription, DNA-templated embryonic genitalia morphogenesis JNK cascade protein phosphorylation Wnt signaling pathway, calcium modulating pathway inner ear morphogenesis smoothened signaling pathway negative regulation of canonical Wnt signaling pathway cartilage condensation signal transduction negative regulation of cell population proliferation peptidyl-tyrosine phosphorylation Wnt signaling pathway, planar cell polarity pathway astrocyte development bone mineralization male genitalia development positive regulation of JUN kinase activity positive regulation of macrophage differentiation positive regulation of synaptic transmission, glutamatergic positive regulation of protein kinase C activity macrophage migration negative regulation of signal transduction negative regulation of apoptotic process positive regulation of ERK1 and ERK2 cascade anatomical structure development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4920 26564 Ensembl ENSG00000169071 ENSMUSG00000021464 UniProt Q01974 Q9Z138 Q8C3W2 RefSeq (mRNA) NM_004560 NM_001318204 NM_013846 RefSeq (protein) NP_001305133 NP_004551 NP_038874 Location (UCSC) Chr 9: 91.56 – 91.95 Mb Chr 13: 53.26 – 53.44 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^{[5] [6] [7]} 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. ^[5]

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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000169071 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021464 - 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: receptor tyrosine kinase-like orphan receptor 2".
6. 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. doi: 10.1016/S0021-9258(18)35733-8 . PMID   1334494.
7. 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. S2CID   40179047.

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. S2CID   205234926.
• 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. S2CID   10333821.
• 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. Bibcode:2008PLoSO...3.1873A. doi: 10.1371/journal.pone.0001873 . PMC   2268744 . PMID   18365018.
• 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. S2CID   30597404.
• 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. S2CID   31791104.
• 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.
• 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.