DDR2 Chromosome 1
Discoidin domain receptor tyrosine kinase 2
Upload your DNA to see your personal genotypes for variants in DDR2.
What This Gene Does
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]
Gene Info
Gene Group
Receptor tyrosine kinases
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000162733
Associated Conditions (6)
DDR2-related disorder
Warburg-cinotti syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Connective tissue disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Key Variants
RS115169993
Conflicting classifications of pathogenicity
DDR2-related disorder, Warburg-cinotti syndrome, DDR2-related disorder
Health Risk
RS1188435532
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS138537887
Conflicting classifications of pathogenicity
DDR2-related disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, DDR2-related disorder
Health Risk
RS141476528
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS141801107
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS144293078
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS144350332
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS1647819392
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS189870832
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS199526949
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201573606
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
RS2271305
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115169993 | Health Risk | Conflicting classifications of pathogenicity | DDR2-related disorder, Warburg-cinotti syndrome, DDR2-related disorder |
| RS1188435532 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS138537887 | Health Risk | Conflicting classifications of pathogenicity | DDR2-related disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, DDR2-related disorder |
| RS141476528 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS141801107 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS144293078 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS144350332 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS1647819392 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS189870832 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS199526949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201573606 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS2271305 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS34722354 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS35077871 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS369267630 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS376919678 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS377626332 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS56313008 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, DDR2-related disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS56351141 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS749852883 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757051385 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766364700 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS768825317 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS773962213 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS121964863 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS1571295161 | Health Risk | Likely pathogenic | — |
| RS2102135193 | Health Risk | Likely pathogenic | — |
| RS2102206250 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS2526811497 | Health Risk | Likely pathogenic | — |
| RS1056323839 | Health Risk | Pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS121964864 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS121964865 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS1241709692 | Health Risk | Pathogenic | — |
| RS140710321 | Health Risk | Pathogenic | Inborn genetic diseases, DDR2-related disorder, Inborn genetic diseases |
| RS1571325076 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS1663633174 | Health Risk | Pathogenic | — |
| RS2102127825 | Health Risk | Pathogenic | — |
| RS2102156036 | Health Risk | Pathogenic | — |
| RS2102198946 | Health Risk | Pathogenic | — |
| RS2525010444 | Health Risk | Pathogenic | — |
| RS2525035843 | Health Risk | Pathogenic | — |
| RS2526835356 | Health Risk | Pathogenic | — |
| RS397514747 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| RS928746429 | Health Risk | Pathogenic | — |
| RS1558079436 | Health Risk | Pathogenic/Likely pathogenic | Warburg-cinotti syndrome, Warburg-cinotti syndrome |