Entity Details

Primary name DDR2
Entity type gene
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Details

PrimaryID4921
RefseqGeneNG_016290
SymbolDDR2
Namediscoidin domain receptor tyrosine kinase 2
Chromosome1
Location1q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-07-13
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsDDR2_HUMAN

GO terms

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GOName
GO:0001503 ossification
GO:0003416 endochondral bone growth
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005518 collagen binding
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005925 focal adhesion
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275 multicellular organism development
GO:0010715 regulation of extracellular matrix disassembly
GO:0010763 positive regulation of fibroblast migration
GO:0015629 actin cytoskeleton
GO:0016324 apical plasma membrane
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030500 regulation of bone mineralization
GO:0031214 biomineral tissue development
GO:0033674 positive regulation of kinase activity
GO:0034103 regulation of tissue remodeling
GO:0035988 chondrocyte proliferation
GO:0038062 protein tyrosine kinase collagen receptor activity
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
GO:0043235 receptor complex
GO:0045669 positive regulation of osteoblast differentiation
GO:0045860 positive regulation of protein kinase activity
GO:0046777 protein autophosphorylation
GO:0048146 positive regulation of fibroblast proliferation
GO:0051091 positive regulation of DNA-binding transcription factor activity
GO:0090091 positive regulation of extracellular matrix disassembly

Diseases

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Disease IDSourceNameDescription
618175 OMIMWarburg-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. The disease is caused by variants affecting the gene represented in this entry.
271665 OMIMSpondyloepimetaphyseal 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. The disease is caused by variants affecting the gene represented in this entry.