ROR2


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ROR2

A gene on chromosome 9q22 that encodes a tyrosine kinase and type-I transmembrane protein belonging to the ROR subfamily of cell surface receptors, which may play a role in early chondrocyte formation, and may be required for cartilage and growth plate development.

Molecular pathology
ROR2 mutations cause brachydactyly type B and the autosomal recessive form of Robinow syndrome, which is characterised by skeletal dysplasia with shortening of long bones, segmental defects of the spine, brachydactyly and facial dysmorphia.
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The scientists say that molecular signaling from Wnt5a - working in tandem with its co-receptors ROR1 and ROR2 in the uterus - causes uterine implantation chambers (crypts) in mice to form at regular intervals.
In order for Wnt5A to promote the phenotype switch from early in the tumor's formation to the time it becomes metastatic, the tyrosine kinase receptor ROR2 is required.
The researchers were able to determine that ROR1 inhibited the invasion of melanoma cells, and this receptor was targeted for degradation by Wnt5A and ROR2.
The researchers also found that hypoxia - areas of low oxygen supply in the tumor - is able to induce a switch from ROR1 to ROR2 and results in an increase in levels of Wnt5A, suggesting the switch from a non-invasive ROR1-positive phenotype to an invasive ROR2-positive phenotype occurs when the tumor is exposed to hypoxic conditions.
4% polymorphisms (25/220 SNPs) within the below listed 9 genes were found to have a statistically different distribution between cases and controls: NRC31, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP4.
Sequence variants in a total of 8 genes were associated with an increased risk for SF development: NR3C1, ANKH, VDR, ROR2, CALCR, IL6, CBG, and COL1A2 (Table 2).
In this pilot study the association of SF with 25 sequence variants within the following 9 genes: NRC31, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP4 were assessed.
ROR2 hucre yuzeyinde bulunan tirozin kinaz ailesinden olup iskelet, kardiyovaskuler ve genital sistem olusumunda etkilidir (10).
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.