AlphaFold predicted structure
DDR2 · Q16832
Mean pLDDT
75.8/ 100
Confident
855 residues
Confidence breakdown
- Very high(≥ 90)40%
- Confident(70–90)32%
- Low(50–70)8%
- Very low(< 50)20%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DDR2
Chr 1q23.3discoidin domain receptor tyrosine kinase 2
- Aliases:
- TKT
- MANE:
- ENST00000367921.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
BIALLELIC, autosomal or pseudoautosomalOsteogenesis imperfecta
Disease associations (Open Targets)
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
0.78Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
0.75colorectal cancer
0.58Warburg-Cinotti syndrome
0.57hepatocellular carcinoma
0.45Abnormality of the skeletal system
0.43Dupuytren Contracture
0.42neoplasm
0.41metastatic colorectal cancer
0.41gastrointestinal stromal tumor
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Discoidin domain-containing receptor 2
Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing
Diseases associated with DDR2
Curated MONDO disease pages that list DDR2 among their top associated genes.