DDR2

This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]

Discoidin Domain Receptor Tyrosine Kinase 2

Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416).

It functions as 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.

Biomineral tissue development Source: UniProtKB
Cell adhesion Source: ProtInc
Chondrocyte proliferation Source: UniProtKB
Collagen-activated tyrosine kinase receptor signaling pathway Source: UniProtKB
Collagen fibril organization Source: UniProtKB
Endochondral bone growth Source: UniProtKB
Extracellular matrix organization Source: Reactome
Multicellular organism development Source: GO_Central
Ossification Source: UniProtKB-KW
Peptidyl-tyrosine phosphorylation Source: UniProtKB
Positive regulation of DNA-binding transcription factor activity Source: UniProtKB
Positive regulation of extracellular matrix disassembly Source: UniProtKB
Positive regulation of fibroblast migration Source: UniProtKB
Positive regulation of fibroblast proliferation Source: UniProtKB
Positive regulation of kinase activity Source: GO_Central
Positive regulation of osteoblast differentiation Source: UniProtKB
Positive regulation of protein kinase activity Source: UniProtKB
Protein autophosphorylation Source: UniProtKB
Regulation of bone mineralization Source: UniProtKB
Regulation of extracellular matrix disassembly Source: UniProtKB
Regulation of tissue remodeling Source: UniProtKB
Signal transduction Source: ProtInc
Transmembrane receptor protein tyrosine kinase signaling pathway Source: GO_Central

Cell membrane

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.
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.

Extracellular: 22-399
Helical: 400-421
Cytoplasmic: 422-855

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