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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]
DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2) is a Protein Coding gene. Diseases associated with DDR2 include Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type and Warburg-Cinotti Syndrome. Among its related pathways are Degradation of the extracellular matrix and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is DDR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004713 | protein tyrosine kinase activity | IEA | -- |
GO:0004714 | transmembrane receptor protein tyrosine kinase activity | TAS,IDA | 20004161 |
GO:0005515 | protein binding | IPI | 17703188 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0005925 | focal adhesion | HDA | 21423176 |
GO:0015629 | actin cytoskeleton | IDA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
|
5 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
|
Activation of PKA through GPCR
.71
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0003416 | endochondral bone growth | ISS | -- |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0007155 | cell adhesion | TAS | 9659899 |
GO:0007165 | signal transduction | TAS | 9659899 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
regorafenib | Approved | Pharma | Target, inhibitor | Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 0 | |
Tyrosine | Approved, Investigational | Nutra | 1044 | |||
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Dasatinib | Approved, Investigational | Pharma | Inhibition, inhibitor | Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors | 324 | |
Sorafenib | Approved, Investigational | Pharma | inhibitors, inhibitor | Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 779 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DDR2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DDR2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DDR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DDR2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ddr2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ddr2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | DDR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DDR2 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | DDR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497889 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ddr2a 30 31 |
|
OneToMany | |
ddr2b 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ddr 30 31 |
|
ManyToMany | |
CG34380 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ddr-2 30 31 |
|
OneToMany | |
F11D5.3a 32 |
|
|
|||
F11D5.3b 32 |
|
|
|||
C25F6.4 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1149 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
12316 | Pathogenic: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 162,776,371(+) | G/A | SPLICE_DONOR_VARIANT | |
717693 | Likely Benign: not provided | 162,778,627(+) | G/A | SYNONYMOUS_VARIANT | |
719940 | Conflicting Interpretations: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome; not provided | 162,775,826(+) | C/T | SYNONYMOUS_VARIANT | |
722542 | Likely Benign: not provided | 162,780,186(+) | G/A | SYNONYMOUS_VARIANT | |
723739 | Benign: not provided | 162,767,290(+) | C/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3387297 | CNV | insertion | 20981092 |
esv3587752 | CNV | loss | 21293372 |
nsv1120073 | OTHER | inversion | 24896259 |
nsv1122414 | CNV | deletion | 24896259 |
nsv3299 | CNV | insertion | 18451855 |
nsv478620 | CNV | novel sequence insertion | 20440878 |
nsv516482 | CNV | gain+loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylometaepiphyseal dysplasia, short limb-hand type |
|
|
warburg-cinotti syndrome |
|
|
squamous cell carcinoma |
|
|
lung cancer |
|
|
lung large cell carcinoma |
|
|