Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

Show/Hide all(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
rs144594252	C>G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs267598140	T>A,G	Not-provided, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs376303676	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs397514747	G>A	Pathogenic	Coding sequence variant, missense variant
rs578015216	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057519789	A>G,T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519790	G>T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant
rs1558079436	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1558081627	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1571295161	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571325076	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all(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
MIRT668764	hsa-miR-892c-5p	HITS-CLIP	23824327
MIRT668763	hsa-miR-506-5p	HITS-CLIP	23824327
MIRT668762	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT668761	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668760	hsa-miR-454-5p	HITS-CLIP	23824327
MIRT668759	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT668758	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT668757	hsa-miR-7976	HITS-CLIP	23824327
MIRT668755	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT668756	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668754	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668753	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT659143	hsa-miR-645	HITS-CLIP	23824327
MIRT659142	hsa-miR-3119	HITS-CLIP	23824327
MIRT659140	hsa-miR-3125	HITS-CLIP	23824327
MIRT659141	hsa-miR-3916	HITS-CLIP	23824327
MIRT659139	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT659138	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT659137	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659136	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT497471	hsa-miR-618	PAR-CLIP	22291592
MIRT497470	hsa-miR-519a-3p	PAR-CLIP	22291592
MIRT497469	hsa-miR-519b-3p	PAR-CLIP	22291592
MIRT497468	hsa-miR-519c-3p	PAR-CLIP	22291592
MIRT497467	hsa-miR-302a-3p	PAR-CLIP	22291592
MIRT497466	hsa-miR-302b-3p	PAR-CLIP	22291592
MIRT497465	hsa-miR-302c-3p	PAR-CLIP	22291592
MIRT497464	hsa-miR-302d-3p	PAR-CLIP	22291592
MIRT497463	hsa-miR-302e	PAR-CLIP	22291592
MIRT497462	hsa-miR-372-3p	PAR-CLIP	22291592
MIRT497461	hsa-miR-373-3p	PAR-CLIP	22291592
MIRT497460	hsa-miR-520a-3p	PAR-CLIP	22291592
MIRT497459	hsa-miR-520b	PAR-CLIP	22291592
MIRT497458	hsa-miR-520c-3p	PAR-CLIP	22291592
MIRT497457	hsa-miR-520d-3p	PAR-CLIP	22291592
MIRT497456	hsa-miR-520e	PAR-CLIP	22291592
MIRT497455	hsa-miR-4637	PAR-CLIP	22291592
MIRT497454	hsa-miR-4513	PAR-CLIP	22291592
MIRT497453	hsa-miR-6855-3p	PAR-CLIP	22291592
MIRT497452	hsa-miR-6857-3p	PAR-CLIP	22291592
MIRT497451	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT497450	hsa-miR-3136-5p	PAR-CLIP	22291592
MIRT497449	hsa-miR-4439	PAR-CLIP	22291592
MIRT497448	hsa-miR-943	PAR-CLIP	22291592
MIRT030671	hsa-miR-21-5p	Microarray	33439992
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
MIRT668764	hsa-miR-892c-5p	HITS-CLIP	23824327
MIRT668763	hsa-miR-506-5p	HITS-CLIP	23824327
MIRT668762	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT668761	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668760	hsa-miR-454-5p	HITS-CLIP	23824327
MIRT668759	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT668758	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT668757	hsa-miR-7976	HITS-CLIP	23824327
MIRT668755	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT668756	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668754	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668753	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT659143	hsa-miR-645	HITS-CLIP	23824327
MIRT659142	hsa-miR-3119	HITS-CLIP	23824327
MIRT659140	hsa-miR-3125	HITS-CLIP	23824327
MIRT659141	hsa-miR-3916	HITS-CLIP	23824327
MIRT659139	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT659138	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT659137	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659136	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT497471	hsa-miR-618	PAR-CLIP	22291592
MIRT497470	hsa-miR-519a-3p	PAR-CLIP	22291592
MIRT497469	hsa-miR-519b-3p	PAR-CLIP	22291592
MIRT497468	hsa-miR-519c-3p	PAR-CLIP	22291592
MIRT497467	hsa-miR-302a-3p	PAR-CLIP	22291592
MIRT497466	hsa-miR-302b-3p	PAR-CLIP	22291592
MIRT497465	hsa-miR-302c-3p	PAR-CLIP	22291592
MIRT497464	hsa-miR-302d-3p	PAR-CLIP	22291592
MIRT497463	hsa-miR-302e	PAR-CLIP	22291592
MIRT497462	hsa-miR-372-3p	PAR-CLIP	22291592
MIRT497461	hsa-miR-373-3p	PAR-CLIP	22291592
MIRT497460	hsa-miR-520a-3p	PAR-CLIP	22291592
MIRT497459	hsa-miR-520b	PAR-CLIP	22291592
MIRT497458	hsa-miR-520c-3p	PAR-CLIP	22291592
MIRT497457	hsa-miR-520d-3p	PAR-CLIP	22291592
MIRT497456	hsa-miR-520e	PAR-CLIP	22291592
MIRT497455	hsa-miR-4637	PAR-CLIP	22291592
MIRT497454	hsa-miR-4513	PAR-CLIP	22291592
MIRT497453	hsa-miR-6855-3p	PAR-CLIP	22291592
MIRT497452	hsa-miR-6857-3p	PAR-CLIP	22291592
MIRT497451	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT497450	hsa-miR-3136-5p	PAR-CLIP	22291592
MIRT497449	hsa-miR-4439	PAR-CLIP	22291592
MIRT497448	hsa-miR-943	PAR-CLIP	22291592
MIRT1975220	hsa-miR-1321	CLIP-seq
MIRT1975221	hsa-miR-3162-5p	CLIP-seq
MIRT1975222	hsa-miR-4739	CLIP-seq
MIRT1975223	hsa-miR-4756-5p	CLIP-seq
MIRT1975220	hsa-miR-1321	CLIP-seq
MIRT1975221	hsa-miR-3162-5p	CLIP-seq
MIRT2210604	hsa-miR-4537	CLIP-seq
MIRT1975222	hsa-miR-4739	CLIP-seq
MIRT2210605	hsa-miR-4751	CLIP-seq
MIRT1975223	hsa-miR-4756-5p	CLIP-seq
MIRT2210606	hsa-miR-492	CLIP-seq
MIRT2210607	hsa-miR-643	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ATF4	Activation	20564243

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0003416	Process	Endochondral bone growth	ISS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	20004161
GO:0005515	Function	Protein binding	IPI	17703188, 22939624
GO:0005518	Function	Collagen binding	IBA	21873635
GO:0005518	Function	Collagen binding	IDA	20004161
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	TAS	9659899
GO:0007165	Process	Signal transduction	TAS	9659899
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0010715	Process	Regulation of extracellular matrix disassembly	TAS	16626936
GO:0010763	Process	Positive regulation of fibroblast migration	ISS
GO:0010763	Process	Positive regulation of fibroblast migration	TAS	16626936
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	20004161
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030500	Process	Regulation of bone mineralization	IMP	20564243
GO:0031214	Process	Biomineral tissue development	ISS
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0034103	Process	Regulation of tissue remodeling	IMP	30449416
GO:0035988	Process	Chondrocyte proliferation	ISS
GO:0035988	Process	Chondrocyte proliferation	TAS	16626936
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IBA	21873635
GO:0038062	Function	Protein tyrosine kinase collagen receptor activity	IDA	9659899
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IDA	16186108
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	20564243
GO:0045860	Process	Positive regulation of protein kinase activity	IMP	20564243
GO:0046777	Process	Protein autophosphorylation	IDA	16186108
GO:0048146	Process	Positive regulation of fibroblast proliferation	ISS
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	20564243
GO:0090091	Process	Positive regulation of extracellular matrix disassembly	ISS

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
ELYGCVWLDGLVSYNAPAGQQFVLPGGSIIYLNDSVYDGAVGYSMTEGLGQLTDGVSGLD
DFTQTHEYHVWPGYDYVGWRNESATNGYIEIMFEFDRIRNFTTMKVHCNNMFAKGVKIFK
EVQCYFRSEASEWEPNAISFPLVLDDVNPSARFVTVPLHHRMASAIKCQYHFADTWMMFS
EITFQSDAAMYNNSEALPTSPMAPTTYDPMLKVDDSNTRILIGCLVAIIFILLAIIVIIL
WRQFWQKMLEKASRRMLDDEMTVSLSLPSDSSMFNNNRSSSPSEQGSNSTYDRIFPLRPD
YQEPSRLIRKLPEFAPGEEESGCSGVVKPVQPSGPEGVPHYAEADIVNLQGVTGGNTYSV
PAVTMDLLSGKDVAVEEFPRKLLTFKEKLGEGQFGEVHLCEVEGMEKFKDKDFALDVSAN
QPVLVAVKMLRADANKNARNDFLKEIKIMSRLKDPNIIHLLAVCITDDPLCMITEYMENG
DLNQFLSRHEPPNSSSSDVRTVSYTNLKFMATQIASGMKYLSSLNFVHRDLATRNCLVGK
NYTIKIADFGMSRNLYSGDYYRIQGRAVLPIRWMSWESILLGKFTTASDVWAFGVTLWET
FTFCQEQPYSQLSDEQVIENTGEFFRDQGRQTYLPQPAICPDSVYKLMLSCWRRDTKNRP
SFQEIHLLLLQQGDE

Sequence length

855

Interactions

View interactions

	Reactome
			Non-integrin membrane-ECM interactions

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	23932362, 18938156, 22328973
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Lung carcinoma	Squamous cell carcinoma of lung, Large cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	22328973
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	26206333
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal disorder	rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	rs121964863, rs121964864, rs121964865, rs1571325076, rs397514747
Spondylometaphyseal dysplasia	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	rs77975504, rs121912634, rs121912637, rs267607148, rs267607149, rs515726162, rs1599810980, rs769967246, rs786203989, rs1064795155, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703 View all (14 more)	20223752, 26463668, 8434618, 19110212

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Cervical Cancer	Cervical Cancer	Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2).	GWAS, CBGDA
Gout	Gout		GWAS
Rheumatoid arthritis	Rheumatoid arthritis		GWAS

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Carcinoma Neuroendocrine	Associate	36653904
Carcinoma Non Small Cell Lung	Associate	25173530, 25376516, 26390252, 35709927
Carcinoma Ovarian Epithelial	Associate	36149163
Carcinoma Squamous Cell	Associate	22768234, 23822953, 24296828, 25173530, 29043607, 29129434, 30048458
Cartilage Diseases	Associate	17968949
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24723326
Down Syndrome	Associate	28590426
Drug Related Side Effects and Adverse Reactions	Associate	26390252
Fibrosarcoma	Associate	16186104
Fibrosis	Associate	24768818
Fractures Bone	Associate	25658585
Hereditary leiomyomatosis and renal cell cancer	Associate	15677564
Hip Fractures	Associate	25658585
Hodgkin Disease	Associate	15677564
Idiopathic Noncirrhotic Portal Hypertension	Associate	12765478
Keloid	Associate	30449416
Liposarcoma	Associate	24505276
Liver Cirrhosis	Associate	15136580, 15591520
Liver Cirrhosis Biliary	Stimulate	12765478
Lung Neoplasms	Associate	23822953, 24296828, 24696502, 24768818, 26390252, 28754957, 30048458
Lymphangioleiomyomatosis	Stimulate	15111304
Lymphatic Metastasis	Stimulate	25955408, 29945346
Megaepiphyseal dwarfism	Associate	19110212, 20223752
Mouth Neoplasms	Associate	29945346, 36849997
Neoplasm Invasiveness	Associate	25667101
Neoplasm Metastasis	Associate	25173530, 26362312, 27793038
Neoplasms	Associate	15136580, 16186104, 24723326, 24768818, 25667101, 26619122, 28199989, 28619094, 29129434, 30810094, 31570520, 32195970, 34335575, 34483300, 35711892, 36149163, 37527178, 38538106 View all (3 more)
Neoplasms	Stimulate	26362312, 29043607
Neoplasms Squamous Cell	Associate	25173530, 25348954
Neoplasms Vascular Tissue	Associate	15111304
Neuroblastoma	Associate	38538106
Non Muscle Invasive Bladder Neoplasms	Associate	31011911
Optic Atrophy	Associate	24725993
Osteoarthritis	Associate	17968949, 39213112
Osteoporosis	Associate	25658585, 39213112
Osteoporotic Fractures	Associate	25658585
Ovarian Diseases	Associate	38154356
Ovarian Neoplasms	Associate	30810094, 37303048, 37527178, 38154356
Ovarian Neoplasms	Stimulate	34065317
Sarcoma	Associate	22461510
Sertoli Cell Only Syndrome	Associate	40215689
Smith McCort Dysplasia	Associate	31254341
Spondylometaepiphyseal Dysplasia Short Limb Hand Type	Associate	19110212, 24725993
Squamous Cell Carcinoma of Head and Neck	Associate	25056374, 26619122, 29945346, 32009633
Triple Negative Breast Neoplasms	Associate	25667101, 28590426, 36713812, 40594223
Urethral Neoplasms	Associate	27793038
Urinary Bladder Neoplasms	Associate	27793038
Urologic Neoplasms	Associate	27793038
Vascular System Injuries	Associate	31254341
Vision Disorders	Associate	24725993
Walker Warburg Syndrome	Associate	30449416
Wounds and Injuries	Associate	12765478

DDR2 (discoidin domain receptor tyrosine kinase 2)