ID:ROR2_HUMAN DESCRIPTION: RecName: Full=Tyrosine-protein kinase transmembrane receptor ROR2; EC=2.7.10.1; AltName: Full=Neurotrophic tyrosine kinase, receptor-related 2; Flags: Precursor; 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. Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation. CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. SUBUNIT: Homodimer; promotes osteogenesis. Binds YWHAB. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DEVELOPMENTAL STAGE: Expressed at high levels during early embryonic development. The expression levels drop strongly around day 16 and there are only very low levels in adult tissues. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in ROR2 are a cause of brachydactyly type B1 (BDB1) [MIM:113000]. BDB1 is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In BDB1 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. DISEASE: Defects in ROR2 are a cause of Robinow syndrome autosomal recessive (RRS) [MIM:268310]. 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. SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. SIMILARITY: Contains 1 FZ (frizzled) domain. SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain. SIMILARITY: Contains 1 kringle domain. SIMILARITY: Contains 1 protein kinase domain. SEQUENCE CAUTION: Sequence=BAD92391.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ROR2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q01974
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.