DDR2

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.

Spondyloepimetaphyseal dysplasia, short limb-hand type

SEMD-SL

A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping.

None

The disease is caused by variants affecting the gene represented in this entry.

Warburg-Cinotti syndrome

WRCN

An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis.

None

The disease is caused by variants affecting the gene represented in this entry.

N-glycosylated.

Tyrosine phosphorylated in response to collagen binding. Phosphorylated by SRC; this is required for activation and subsequent autophosphorylation on additional tyrosine residues.

Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.

Detected in osteocytes, osteoblastic cells in subchondral bone, bone lining cells, tibia and cartilage (at protein level). Detected at high levels in heart and lung, and at low levels in brain, placenta, liver, skeletal muscle, pancreas, and kidney.

• Cell membrane
• Single-pass type I membrane protein

CD167b, NTRKR3, TKT, TYRO10, DDR2, Discoidin domain-containing receptor 2, Discoidin domain receptor 2, CD167 antigen-like family member B, Discoidin domain-containing receptor tyrosine kinase 2, Receptor protein-tyrosine kinase TKT, Tyrosine-protein kinase TYRO10

• entrezGene:4921
• omim:191311
• swissprot:Q16832

Proteins

Immuno-oncology

• Oncology

96736Da