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Gene Symbol DDR2
Synonyms MIG20a | NTRKR3 | TKT | TYRO10 | WRCN
Gene Description DDR2, discoidin domain-containing receptor 2, is a tyrosine kinase receptor activated by collagen, promoting cell migration, proliferation, and survival (PMID: 22328973, PMID: 27398168). Altered expression and mutations of DDR2 have been identified in a variety of solid tumors, including ovarian (PMID: 27398168), lung (PMID: 28161936), gastric (PMID: 27350126), and HNSCC (PMID: 27434411).
NCBI Gene ID Chromosome Map Location Canonical Transcript
4921 1 1q23.3 NM_001014796

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A21G missense unknown DDR2 A21G lies within the signal peptide of the Ddr2 protein (UniProt.org). A21G has been identified in sequencing studies (PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
A695D missense unknown DDR2 A695D lies within the protein kinase domain of the Ddr2 protein (UniProt.org). A695D has been identified in sequencing studies (PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
act mut unknown gain of function DDR2 act mut indicates that this variant results in a gain of function in the Ddr2 protein. However, the specific amino acid change has not been identified.
amp none no effect DDR2 amplification indicates an increased number of copies of the DDR2 gene. However, the mechanism causing the increase is unspecified.
C177F missense unknown DDR2 C177F lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). C177F has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
C580Y missense unknown DDR2 C580Y lies within the protein kinase domain of the Ddr2 protein (UniProt.org). C580Y has been identified in the scientific literature (PMID: 28161936), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
C784_P788dup duplication unknown DDR2 C784_P788dup indicates the insertion of 5 duplicate amino acids, cysteine (C)-784 through proline (P)-788, in the protein kinase domain of the Ddr2 protein (UniProt.org). C784_P788dup has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019).
D241Y missense unknown DDR2 D241Y lies within the extracellular domain of the Ddr2 protein (UniProt.org). D241Y has been identified in sequencing studies (PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
D613N missense unknown DDR2 D613N lies within the protein kinase domain of the Ddr2 protein (UniProt.org). D613N has been identified in sequencing studies (PMID: 25056374), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Feb 2020).
D648_Y656dup duplication unknown DDR2 D648_Y656dup indicates the insertion of 9 duplicate amino acids, aspartic acid (D)-648 through tyrosine (Y)-656, in the protein kinase domain of the Ddr2 protein (UniProt.org). D648_Y656dup has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
D661Y missense unknown DDR2 D661Y lies within the protein kinase domain of the Ddr2 protein (UniProt.org). D661Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
E113K missense loss of function - predicted DDR2 E113K lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). E113K demonstrates localization similar to wild-type Ddr2, but results in a loss of ligand binding and concomitant loss of collagen-induced phosphorylation of Ddr2 in culture (PMID: 20223752), and therefore, is predicted to lead to a loss of Ddr2 protein function.
E181K missense unknown DDR2 E181K lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). E181K has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
E625K missense unknown DDR2 E625K lies within the protein kinase domain of the Ddr2 protein (UniProt.org). E625K has not been characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Feb 2020).
E655K missense no effect DDR2 E655K lies within the protein kinase domain of the Ddr2 protein (UniProt.org). E655K demonstrates phosphorylation levels similar to wild-type Ddr2 and is not transforming, and leads to increased binding of the the E3 ubiquitin ligase, Cbl-b, rendering the cells resistant to collagen-induced growth inhibition in culture (PMID: 26826182).
E66G missense unknown DDR2 E66G lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). E66G has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
E85* nonsense loss of function - predicted DDR2 E85* results in a premature truncation of the Ddr2 protein at amino acid 85 of 855 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E85* is predicted to result in a loss of Ddr2 protein function.
G126D missense unknown DDR2 G126D lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). G126D has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
G253C missense gain of function - predicted DDR2 G253C lies within the extracellular domain of the Ddr2 protein (UniProt.org). G253C results in transforming activity in cell culture (PMID: 22328973), and therefore, is predicted to result in a gain of Ddr2 protein function.
G466R missense unknown DDR2 G466R lies within the cytoplasmic domain of the Ddr2 protein (UniProt.org). G466R has been identified in sequencing studies (PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
G505S missense gain of function - predicted DDR2 G505S lies within the cytoplasmic domain of the Ddr2 protein (UniProt.org). G505S is transforming in cell culture (PMID: 22328973), and therefore, is predicted to result in a gain of Ddr2 protein function.
G575R missense unknown DDR2 G575R lies within the protein kinase domain of the Ddr2 protein (UniProt.org). G575R has been identified in the scientific literature (PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
G660E missense unknown DDR2 G660E lies within the protein kinase domain of the Ddr2 protein (UniProt.org). G660E has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
G774E missense unknown DDR2 G774E lies within the protein kinase domain of the Ddr2 protein (UniProt.org). G774E has been identified in the scientific literature (PMID: 28161936), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019).
G774V missense gain of function - predicted DDR2 G774V lies within the protein kinase domain of the Ddr2 protein (PMID: 22328973). G774V is transforming in cell culture (PMID: 22328973), and therefore, is predicted to result in a gain of Ddr2 protein function.
H246R missense no effect DDR2 H246R lies within the extracellular domain of the Ddr2 protein (UniProt.org). H246R demonstrates phosphorylation levels similar to wild-type Ddr2 and is not transforming in culture (PMID: 26826182).
H249Q missense unknown DDR2 H249Q lies within the extracellular domain of the Ddr2 protein (UniProt.org). H249Q has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
I159T missense unknown DDR2 I159T lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). I159T has been identified in sequencing studies (PMID: 28590426), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
I638F missense gain of function DDR2 I638F lies within the protein kinase domain of the Ddr2 protein (UniProt.org). I638F confers a gain of function to the Ddr2 protein, as demonstrated by increased Ddr2 phosphorylation (PMID: 28161936) and Stat5 activation and transformation of cultured cells, and induced tumor formation in mouse xenograft models (PMID: 22328973).
I653_M657dup duplication unknown DDR2 I653_M657dup indicates the insertion of 5 duplicate amino acids, isoleucine (I)-653 through methionine (M)-657, in the protein kinase domain of the Ddr2 protein (UniProt.org). I653_M657dup has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019).
I726R missense loss of function DDR2 I726R lies within the protein kinase domain of the Ddr2 protein (UniProt.org). I726R results in aberrant Ddr2 localization and decreased collagen-induced Ddr2 phosphorylation in culture (PMID: 20223752).
K608M missense loss of function - predicted DDR2 K608M lies within the protein kinase domain of the Ddr2 protein (UniProt.org). K608M results in a loss of kinase activity as demonstrated by reduced Shp2 phosphorylation upon collagen induction in culture (PMID: 23822953), and therefore, is predicted to lead to a loss of Ddr2 protein function.
L239R missense gain of function - predicted DDR2 L239R lies within the extracellular domain of the Ddr2 protein (UniProt.org). L239R results in transforming activity in cell culture (PMID: 22328973), and therefore, is predicted to result in a gain of Ddr2 protein function.
L595P missense gain of function DDR2 L595P lies within the protein kinase domain of the Ddr2 protein (UniProt.org). L595P results in increased cell proliferation and is transforming in culture (PMID: 28161936).
L610P missense gain of function - predicted DDR2 L610P lies within the protein kinase domain of the Ddr2 protein (UniProt.org). L610P results in increased Ddr2 autophosphorylation in culture (PMID: 30449416), and therefore, is predicted to result in a gain of Ddr2 protein function.
L63V missense gain of function DDR2 L63V lies within the discoidin domain of the Ddr2 protein (PMID: 22328973). L63V confers a gain of function to the Ddr2 protein, as demonstrated by increased Stat5 and Src phosphorylation (PMID: 22328973), elevated phosphorylation of Ddr2, and transformation activity in cell culture (PMID: 28161936).
M117I missense unknown DDR2 M117I lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). M117I has been identified in sequencing studies (PMID: 27573823), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
M441I missense unknown DDR2 M441I lies within the cytoplasmic domain of the Ddr2 protein (UniProt.org). M441I has been identified in sequencing studies (PMID: 27882345), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
mutant unknown unknown DDR2 mutant indicates an unspecified mutation in the DDR2 gene.
N134K missense unknown DDR2 N134K lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). N134K has been identified in sequencing studies (PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
over exp none no effect DDR2 over exp indicates an over expression of the Ddr2 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P168_S173dup duplication unknown DDR2 P168_S173dup indicates the insertion of 6 duplicate amino acids, proline (P)-168 through serine (S)-173, in the F5/8 type C domain of the Ddr2 protein (UniProt.org). P168_S173dup has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019).
P476S missense unknown DDR2 P476S lies within the cytoplasmic domain of the Ddr2 protein (UniProt.org). P476S has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
P492S missense unknown DDR2 P492S lies within the cytoplasmic domain of the Ddr2 protein (UniProt.org). P492S has been identified in sequencing studies (PMID: 25801821, PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
P840S missense unknown DDR2 P840S lies within the protein kinase domain of the Ddr2 protein (UniProt.org). P840S has not been characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
Q808H missense unknown DDR2 Q808H lies within the protein kinase domain of the Ddr2 protein (UniProt.org). Q808H has been identified in the scientific literature (PMID: 30048458), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
R135H missense unknown DDR2 R135H lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). R135H has not been characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019).
R489fs frameshift loss of function - predicted DDR2 R489fs results in a change in the amino acid sequence of the Ddr2 protein beginning at aa 489 of 855, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R489fs is predicted to result in a loss of Ddr2 protein function.
R611* nonsense loss of function - predicted DDR2 R611* results in a premature truncation of the Ddr2 protein at amino acid 611 of 855 (UniProt.org). Due to the disruption of the protein kinase domain (UniProt.org), R611* is predicted to result in a loss of Ddr2 protein function.
R619S missense unknown DDR2 R619S lies within the protein kinase domain of the Ddr2 protein (UniProt.org). R619S has been identified in the scientific literature (PMID: 25348954, PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
R62M missense unknown DDR2 R62M lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). R62M has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
R709* nonsense unknown DDR2 R709* results in a premature truncation of the Ddr2 protein at amino acid 709 of 855 (UniProt.org). R709* has been identified in the scientific literature (PMID: 26619122), but not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
R752C missense loss of function DDR2 R752C lies within the protein kinase domain of the Ddr2 protein (UniProt.org). R752C results in aberrant Ddr2 localization and decreased collagen-induced Ddr2 phosphorylation in culture (PMID: 20223752).
R752H missense unknown DDR2 R752H lies within the protein kinase domain of the Ddr2 protein (UniProt.org). R752H has been identified in sequencing studies (PMID: 27170661, PMID: 29129434), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Oct 2019).
R839H missense unknown DDR2 R839H lies within the protein kinase domain of the Ddr2 protein (UniProt.org). R839H has been identified in sequencing studies (PMID: 23917401), but not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Feb 2020).
S123I missense unknown DDR2 S123I lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). S123I has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
S50N missense unknown DDR2 S50N lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). S50N has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
S768R missense gain of function DDR2 S768R lies within the protein kinase domain of the Ddr2 protein (PMID: 22328973). S768R confers a gain of function to the Ddr2 protein, as demonstrated by increased Ddr2 phosphorylation and transforming activity in cultured cells (PMID: 26826182).
T654I missense unknown DDR2 T654I is a gatekeeper mutation that lies within the protein kinase domain of the Ddr2 protein (UniProt.org). T654I has not been biochemically characterized, but has been associated with secondary drug resistance (PMID: 24296828), and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019). Y
T654M missense unknown DDR2 T654M lies within the protein kinase domain of the Ddr2 protein (UniProt.org). T654M has been demonstrated to occur as a "gatekeeper" mutation and is associated with secondary drug resistance (PMID: 22328973), but has not been biochemically characterized, and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020). Y
T713I missense loss of function DDR2 T713I lies within the protein kinase domain of the Ddr2 protein (UniProt.org). T713I results in aberrant Ddr2 localization and decreased collagen-induced Ddr2 phosphorylation in culture (PMID: 20223752).
T765P missense unknown DDR2 T765P lies within the protein kinase domain of the Ddr2 protein (UniProt.org). T765P has been identified in the scientific literature (PMID: 28161936), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Nov 2019).
V302I missense unknown DDR2 V302I lies within the extracellular domain of the Ddr2 protein (UniProt.org). V302I has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
V582E missense gain of function DDR2 V582E lies within the protein kinase domain of the Ddr2 protein (UniProt.org). V582E results in increased Ddr2 phosphorylation, and leads to increased cell proliferation and transformation in culture (PMID: 28161936).
V605M missense unknown DDR2 V605M lies within the protein kinase domain of the Ddr2 protein (UniProt.org). V605M has been identified in sequencing studies (PMID: 25122428), but has not been biochemically characterized and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
W72L missense unknown DDR2 W72L lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). W72L has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
wild-type none no effect Wild-type DDR2 indicates that no mutation has been detected within the DDR2 gene.
Y122C missense unknown DDR2 Y122C lies within the F5/8 type C domain of the Ddr2 protein (UniProt.org). Y122C has not been characterized in the scientific literature and therefore, its effect on Ddr2 protein function is unknown (PubMed, Jan 2020).
Y740C missense gain of function - predicted DDR2 Y740C lies within the protein kinase domain of the Ddr2 protein (UniProt.org). Y740C results in increased Ddr2 autophosphorylation in culture (PMID: 30449416), and therefore, is predicted to result in a gain of Ddr2 protein function.