Gene Gene information from NCBI Gene database.
Entrez ID 4921
Gene name Discoidin domain receptor tyrosine kinase 2
Gene symbol DDR2
Synonyms (NCBI Gene)
MIG20aNTRKR3TKTTYRO10WRCN
Chromosome 1
Chromosome location 1q23.3
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
SNPs SNP information provided by dbSNP.
16
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.
110
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATF4 Activation 20564243
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191311 2731 ENSG00000162733
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
117
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Pathogenic rs1056323839 RCV005931637
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Likely pathogenic; Pathogenic rs2102206250, rs121964863, rs121964864, rs121964865, rs1571325076, rs1647819392, rs397514747 RCV002279764
RCV000013106
RCV000013107
RCV000013108
RCV000013109
RCV003993619
RCV000054530
Warburg-cinotti syndrome Pathogenic rs1558079436 RCV000714481
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Connective tissue disorder Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs1236758438, rs756623313, rs2271305, rs56351141, rs377626332, rs189870832, rs144293078, rs76156815, rs34722354 RCV002278713
RCV002278714
RCV002277416
RCV002278178
RCV002278335
RCV002278334
RCV002279384
RCV002279624
RCV002279700
DDR2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs774706415, rs56313008, rs115169993, rs140710321, rs2524974750, rs149841590, rs1350936433, rs2102186500, rs1427124747, rs138537887 RCV003950965
RCV003891935
RCV003930072
RCV003957460
RCV003911730
RCV003977148
RCV003963999
RCV003971572
RCV003966820
RCV003895491
Lung adenocarcinoma Benign; Uncertain significance rs527246756, rs2524990838, rs1664193753 RCV003129618
RCV003129668
RCV003129669
Spondyloepimetaphyseal dysplasia Uncertain significance; Benign; Conflicting classifications of pathogenicity rs886045500, rs5778295 RCV000404213
RCV000352636
RCV000295491
Associations from Text MiningDisease 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