AlphaFold predicted structure
ROR2 · Q01974
Mean pLDDT
68.3/ 100
Low
943 residues
Confidence breakdown
- Very high(≥ 90)23%
- Confident(70–90)37%
- Low(50–70)8%
- Very low(< 50)32%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ROR2
Chr 9q22.31ROR family WNT receptor 2
- MANE:
- ENST00000375708.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
BOTH monoallelic and biallelic, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Disease associations (Open Targets)
autosomal recessive Robinow syndrome
0.81brachydactyly type B1
0.76Robinow syndrome
0.64Abnormality of the skeletal system
0.54neurodegenerative disease
0.50brachydactyly type B
0.39brachydactyly
0.38fetal akinesia deformation sequence 1
0.35placenta praevia
0.35arthrogryposis multiplex congenita
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tyrosine-protein kinase transmembrane receptor ROR2
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)
Diseases associated with ROR2
Curated MONDO disease pages that list ROR2 among their top associated genes.