ROR2

ROR2 is a protein that in humans is encoded by the ROR2 gene. ROR2 is a member of the ROR subfamily of cell surface receptors. Diseases associated with ROR2 include Brachydactyly Type B1 and Robinow Syndrome, Autosomal Recessive 1. Among its related pathways are Signaling by Wnt and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include ATP binding and transmembrane signaling receptor activity.

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. Mutations in this gene can cause brachydactyly type B2 (BDB2). This gene is also associated with the autosomal recessive form of Robinow syndrome.

Clinical significance

Mutations in the ROR2 gene are associated with Robinow syndrome, an extremely rare, autosomal recessive disorder characterized by short-limbed dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The ROR2 gene is also associated with Brachydactyly type B1, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails.

Interactions

ROR2 has been shown to interact with Casein kinase 1 epsilon.

See also

• Receptor tyrosine kinase
• Brachydactyly
• Robinow Syndrome

External links

• ROR2 at the US National Library of Medicine Medical Subject Headings (MeSH)

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