Gene: DDR2

Alternate names for this Gene: MIG20a|NTRKR3|TKT|TYRO10|WRCN

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: discoidin domain receptor tyrosine kinase 2

Type of Gene: protein-coding

rs6697469 in DDR2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs17433710 in DDR2 gene and Dupuytren Contracture PMID 28886342 2017 A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

rs7512080 in DDR2 gene and Malignant melanoma of choroid PMID 31626034 2020 Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.

rs121964863 in DDR2 gene and SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE PMID 20223752 2010 We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum.

PMID 26463668 2016 Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

PMID 19110212 2009 Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

PMID 20223752 2010 We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum.

PMID 20223752 2010 We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum.

PMID 20223752 2010 Here we report a novel DDR2 missense mutation, c.337G>A (p.E113K), that causes SMED-SL in two siblings in the United Arab Emirates.

rs267598140 in DDR2 gene and Squamous cell carcinoma PMID 23932362 2013 Response to dasatinib in a patient with SQCC of the lung harboring a discoid-receptor-2 and synchronous chronic myelogenous leukemia.

PMID 18938156 2008 Inhibition of collagen-induced discoidin domain receptor 1 and 2 activation by imatinib, nilotinib and dasatinib.

PMID 22328973 2011 Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer.

rs1057519789 in DDR2 gene and Squamous cell carcinoma of lung PMID 22328973 2011 Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer.

rs10917587 in DDR2 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.