Entrez gene ID | | 4920 |
Official gene symbol | | ROR2 |
Full name | | receptor tyrosine kinase-like orphan receptor 2 |
Aliases | | ,BDB,BDB1,MGC163394,NTRKR2, |
Gene summary | | The protein encoded by this gene is a receptor protein 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 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. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q22 |
Gene position | | 94712444 - 94484884 Map Viewer |
Gene orientation | | minus |
Gene size | | 227561 bp |
Gene sequence |
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OMIM ID | | 602337 |
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