Ror2
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, Jul 2008]
Function
Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity).
Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073).
In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443).
Biological Process
Biological Process astrocyte developmentIEA:Ensembl
Biological Process bone mineralizationIEA:Ensembl
Biological Process macrophage migrationIEA:Ensembl
Biological Process male genitalia developmentIEA:Ensembl
Biological Process positive regulation of cell migrationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of JUN kinase activityIEA:Ensembl
Biological Process positive regulation of kinase activityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of macrophage differentiationIEA:Ensembl
Biological Process positive regulation of neuron projection developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of phosphatidylinositol 3-kinase signalingManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of protein kinase C activityIEA:Ensembl
Biological Process positive regulation of synaptic transmission, glutamatergicIEA:Ensembl
Biological Process signal transductionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process transmembrane receptor protein tyrosine kinase signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cell membrane
Involvement in disease
Brachydactyly B1 (BDB1):
A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature.
Robinow syndrome, autosomal recessive 1 (RRS1):
A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.
Topology
Extracellular: 34-403
Helical: 404-424
Cytoplasmic: 425-943