The protein encoded by this gene is areceptor tyrosine kinase andtype 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]
Mutations in this gene can causebrachydactyly type B, a skeletal disorder characterized byhypoplasia/aplasia of distalphalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form ofRobinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine,brachydactyly, and a dysmorphic facial appearance.[5]
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.PMID17996904.
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.PMID19135982.
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.PMID18831060.S2CID30597404.
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.PMID18703641.
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.PMID19533773.S2CID31791104.
