Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4921
Gene name Gene Name - the full gene name approved by the HGNC.
Discoidin domain receptor tyrosine kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDR2
Synonyms (NCBI Gene) Gene synonyms aliases
MIG20a, NTRKR3, TKT, TYRO10, WRCN
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs115169993 G>A Likely-pathogenic, benign, not-provided Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs121964863 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121964864 T>G Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121964865 C>A,T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs141801107 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030671 hsa-miR-21-5p Microarray 18591254
MIRT668768 hsa-miR-4687-5p HITS-CLIP 23824327
MIRT668767 hsa-miR-6779-3p HITS-CLIP 23824327
MIRT668766 hsa-miR-129-1-3p HITS-CLIP 23824327
MIRT668765 hsa-miR-129-2-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
ATF4 Activation 20564243
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001503 Process Ossification IEA
GO:0003416 Process Endochondral bone growth IEA
GO:0003416 Process Endochondral bone growth ISS
GO:0004672 Function Protein kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191311 2731 ENSG00000162733
Protein
UniProt ID Q16832
Protein name Discoidin domain-containing receptor 2 (Discoidin domain receptor 2) (EC 2.7.10.1) (CD167 antigen-like family member B) (Discoidin domain-containing receptor tyrosine kinase 2) (Neurotrophic tyrosine kinase, receptor-related 3) (Receptor protein-tyrosine
Protein function Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cel
PDB 2WUH , 2Z4F , 6FER , 7AZB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00754 F5_F8_type_C 45 182 F5/8 type C domain Domain
PF07714 PK_Tyr_Ser-Thr 563 849 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in osteocytes, osteoblastic cells in subchondral bone, bone lining cells, tibia and cartilage (at protein level). Detected at high levels in heart and lung, and at low levels in brain, placenta, liver, skeletal muscle, pancrea
Sequence
MILIPRMLLVLFLLLPILSSAKAQVNPAICRYPLGMSGGQIPDEDITASSQWSESTAAKY
GRLDSEEGDGAWCPEIPVEPDDLKEFLQIDLHTLHFITLVGTQGRHAGGHGIEFAPMYKI
NYSRDGTRWISWRNRHGKQVLDGNSNPYDIFLKDLEPPIVARFVRFIPVTDHSMNVCMRV
EL
YGCVWLDGLVSYNAPAGQQFVLPGGSIIYLNDSVYDGAVGYSMTEGLGQLTDGVSGLD
DFTQTHEYHVWPGYDYVGWRNESATNGYIEIMFEFDRIRNFTTMKVHCNNMFAKGVKIFK
EVQCYFRSEASEWEPNAISFPLVLDDVNPSARFVTVPLHHRMASAIKCQYHFADTWMMFS
EITFQSDAAMYNNSEALPTSPMAPTTYDPMLKVDDSNTRILIGCLVAIIFILLAIIVIIL
WRQFWQKMLEKASRRMLDDEMTVSLSLPSDSSMFNNNRSSSPSEQGSNSTYDRIFPLRPD
YQEPSRLIRKLPEFAPGEEESGCSGVVKPVQPSGPEGVPHYAEADIVNLQGVTGGNTYSV
PAVTMDLLSGKDVAVEEFPRKLLTFKEKLGEGQFGEVHLCEVEGMEKFKDKDFALDVSAN
QPVLVAVKMLRADANKNARNDFLKEIKIMSRLKDPNIIHLLAVCITDDPLCMITEYMENG
DLNQFLSRHEPPNSSSSDVRTVSYTNLKFMATQIASGMKYLSSLNFVHRDLATRNCLVGK
NYTIKIADFGMSRNLYSGDYYRIQGRAVLPIRWMSWESILLGKFTTASDVWAFGVTLWET
FTFCQEQPYSQLSDEQVIENTGEFFRDQGRQTYLPQPAICPDSVYKLMLSCWRRDTKNRP
SFQEIHLLL
LQQGDE
Sequence length 855
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Non-integrin membrane-ECM interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome rs121964863, rs121964864, rs121964865, rs1571325076, rs397514747 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cervical Cancer Cervical cancer N/A N/A GWAS
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Gout Gout N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29043607, 31407221
Ameloblastoma Stimulate 24723326
Atherosclerosis Associate 15111304, 15136580, 24723326, 24768818
Atrial Fibrillation Associate 23593175
Azoospermia Associate 40215689
Breast Neoplasms Associate 25667101, 25955408, 28590426, 31570520, 33439992, 35711892, 36404592
Calcinosis Associate 19110212
Calcinosis Cutis Associate 25173530
Carcinoma Hepatocellular Associate 26362312, 34335575, 36471363
Carcinoma Intraductal Noninfiltrating Stimulate 25667101