ROR2 gene
The ROR2 gene provides instructions for a receptor protein that regulates critical signaling pathways involved in skeletal, heart, and genital development.
Normal Function
The ROR2 gene provides instructions for making a protein that is part of a family known as receptor tyrosine kinases (RTKs). RTKs play a role in chemical signaling within cells, influencing functions such as cell growth and division (proliferation), maturation (differentiation), survival, and movement (motility).
The ROR2 protein is involved in Wnt signaling pathways, which control gene activity and regulate interactions between cells during the formation of organs and tissues. ROR2 appears to be critical for the normal formation of the skeleton, heart, and genitals.
Health Conditions Related to Genetic Changes
Robinow syndrome
At least 20 mutations in the ROR2 gene have been found to cause the autosomal recessive form of Robinow syndrome, a condition affecting the development of many body parts, particularly the bones. These "loss-of-function" mutations prevent the production of functional ROR2 protein, impairing signaling pathways necessary for the formation of bones in the face, spine, and limbs, as well as contributing to genital abnormalities and heart defects.
Other disorders
More than 10 mutations in the ROR2 gene have been identified in brachydactyly type B1, a condition characterized by abnormally short fingers and toes and malformed or absent nails. Unlike the mutations associated with Robinow syndrome, these are "gain-of-function" mutations that appear to cause the ROR2 protein to be continuously active, though the mechanism by which this disrupts bone development remains unclear.
Other Names for This Gene
- BDB1
- brachydactyly type B1 gene
- neurotrophic tyrosine kinase receptor-related 2 gene
- NTRKR2
- receptor tyrosine kinase-like orphan receptor 2
- ROR2_HUMAN