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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51206
Gene name	Glycoprotein VI platelet
Gene symbol	GP6
Synonyms (NCBI Gene)	BDPLT11GPIVGPVI
Chromosome	19
Chromosome location	19q13.42
Summary	This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a com

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miRTarBase ID	miRNA	Experiments
MIRT1028005	hsa-miR-1343	CLIP-seq
MIRT1028006	hsa-miR-1976	CLIP-seq
MIRT1028007	hsa-miR-25	CLIP-seq
MIRT1028008	hsa-miR-3120-3p	CLIP-seq
MIRT1028009	hsa-miR-3138	CLIP-seq
MIRT1028010	hsa-miR-32	CLIP-seq
MIRT1028011	hsa-miR-3545-3p	CLIP-seq
MIRT1028012	hsa-miR-363	CLIP-seq
MIRT1028013	hsa-miR-3663-5p	CLIP-seq
MIRT1028014	hsa-miR-367	CLIP-seq
MIRT1028015	hsa-miR-378g	CLIP-seq
MIRT1028016	hsa-miR-3942-5p	CLIP-seq
MIRT1028017	hsa-miR-4312	CLIP-seq
MIRT1028018	hsa-miR-4423-5p	CLIP-seq
MIRT1028019	hsa-miR-4437	CLIP-seq
MIRT1028020	hsa-miR-4520a-3p	CLIP-seq
MIRT1028021	hsa-miR-4635	CLIP-seq
MIRT1028022	hsa-miR-4666-5p	CLIP-seq
MIRT1028023	hsa-miR-4674	CLIP-seq
MIRT1028024	hsa-miR-4680-5p	CLIP-seq
MIRT1028025	hsa-miR-4703-5p	CLIP-seq
MIRT1028026	hsa-miR-4722-3p	CLIP-seq
MIRT1028027	hsa-miR-4757-5p	CLIP-seq
MIRT1028028	hsa-miR-4781-3p	CLIP-seq
MIRT1028029	hsa-miR-92a	CLIP-seq
MIRT1028030	hsa-miR-92b	CLIP-seq
MIRT2004956	hsa-miR-128	CLIP-seq
MIRT1028005	hsa-miR-1343	CLIP-seq
MIRT1028006	hsa-miR-1976	CLIP-seq
MIRT1028007	hsa-miR-25	CLIP-seq
MIRT1028008	hsa-miR-3120-3p	CLIP-seq
MIRT1028009	hsa-miR-3138	CLIP-seq
MIRT1028010	hsa-miR-32	CLIP-seq
MIRT1028011	hsa-miR-3545-3p	CLIP-seq
MIRT1028012	hsa-miR-363	CLIP-seq
MIRT1028014	hsa-miR-367	CLIP-seq
MIRT1028015	hsa-miR-378g	CLIP-seq
MIRT1028016	hsa-miR-3942-5p	CLIP-seq
MIRT1028019	hsa-miR-4437	CLIP-seq
MIRT1028020	hsa-miR-4520a-3p	CLIP-seq
MIRT1028022	hsa-miR-4666-5p	CLIP-seq
MIRT1028023	hsa-miR-4674	CLIP-seq
MIRT1028024	hsa-miR-4680-5p	CLIP-seq
MIRT1028025	hsa-miR-4703-5p	CLIP-seq
MIRT1028026	hsa-miR-4722-3p	CLIP-seq
MIRT1028029	hsa-miR-92a	CLIP-seq
MIRT1028030	hsa-miR-92b	CLIP-seq
MIRT2237639	hsa-miR-1273f	CLIP-seq
MIRT1028005	hsa-miR-1343	CLIP-seq
MIRT1028006	hsa-miR-1976	CLIP-seq
MIRT2237640	hsa-miR-219-2-3p	CLIP-seq
MIRT1028007	hsa-miR-25	CLIP-seq
MIRT2237641	hsa-miR-3115	CLIP-seq
MIRT1028008	hsa-miR-3120-3p	CLIP-seq
MIRT1028009	hsa-miR-3138	CLIP-seq
MIRT1028010	hsa-miR-32	CLIP-seq
MIRT2237642	hsa-miR-342-5p	CLIP-seq
MIRT1028011	hsa-miR-3545-3p	CLIP-seq
MIRT1028012	hsa-miR-363	CLIP-seq
MIRT1028013	hsa-miR-3663-5p	CLIP-seq
MIRT1028014	hsa-miR-367	CLIP-seq
MIRT2237643	hsa-miR-3675-5p	CLIP-seq
MIRT1028015	hsa-miR-378g	CLIP-seq
MIRT1028016	hsa-miR-3942-5p	CLIP-seq
MIRT1028017	hsa-miR-4312	CLIP-seq
MIRT1028018	hsa-miR-4423-5p	CLIP-seq
MIRT1028019	hsa-miR-4437	CLIP-seq
MIRT1028020	hsa-miR-4520a-3p	CLIP-seq
MIRT1028021	hsa-miR-4635	CLIP-seq
MIRT2237644	hsa-miR-4651	CLIP-seq
MIRT2237645	hsa-miR-4664-5p	CLIP-seq
MIRT1028022	hsa-miR-4666-5p	CLIP-seq
MIRT1028023	hsa-miR-4674	CLIP-seq
MIRT1028024	hsa-miR-4680-5p	CLIP-seq
MIRT1028025	hsa-miR-4703-5p	CLIP-seq
MIRT1028026	hsa-miR-4722-3p	CLIP-seq
MIRT1028027	hsa-miR-4757-5p	CLIP-seq
MIRT1028028	hsa-miR-4781-3p	CLIP-seq
MIRT2237646	hsa-miR-608	CLIP-seq
MIRT2237647	hsa-miR-615-5p	CLIP-seq
MIRT1028029	hsa-miR-92a	CLIP-seq
MIRT1028030	hsa-miR-92b	CLIP-seq
MIRT1028007	hsa-miR-25	CLIP-seq
MIRT1028008	hsa-miR-3120-3p	CLIP-seq
MIRT1028009	hsa-miR-3138	CLIP-seq
MIRT1028010	hsa-miR-32	CLIP-seq
MIRT1028012	hsa-miR-363	CLIP-seq
MIRT1028014	hsa-miR-367	CLIP-seq
MIRT1028016	hsa-miR-3942-5p	CLIP-seq
MIRT1028020	hsa-miR-4520a-3p	CLIP-seq
MIRT1028022	hsa-miR-4666-5p	CLIP-seq
MIRT1028025	hsa-miR-4703-5p	CLIP-seq
MIRT1028029	hsa-miR-92a	CLIP-seq
MIRT1028030	hsa-miR-92b	CLIP-seq

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Transcription factor	Regulation	Reference
ETS1	Activation	12377757
FLI1	Activation	12359731
GATA1	Activation	12377757

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002764	Process	Immune response-regulating signaling pathway	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	10822077
GO:0005515	Function	Protein binding	IPI	1715582, 19940238
GO:0005518	Function	Collagen binding	IEA
GO:0005518	Function	Collagen binding	TAS	9153205, 11027634
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10822077
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	TAS	9153205
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0009986	Component	Cell surface	HDA	23382103
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0030168	Process	Platelet activation	NAS	11027634
GO:0038023	Function	Signaling receptor activity	TAS	11027634
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0038064	Function	Collagen receptor activity	IEA
GO:0038065	Process	Collagen-activated signaling pathway	IEA
GO:0038065	Process	Collagen-activated signaling pathway	TAS	31145836
GO:0045121	Component	Membrane raft	IDA	31145836
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070527	Process	Platelet aggregation	IEA
GO:0070527	Process	Platelet aggregation	IEA
GO:0097197	Component	Tetraspanin-enriched microdomain	IDA	18795891
GO:1901731	Process	Positive regulation of platelet aggregation	TAS	31145836
GO:1990782	Function	Protein tyrosine kinase binding	IPI	31145836

MIM	HGNC	e!Ensembl
605546	14388	ENSG00000088053

Q9HCN6

Protein name

Platelet glycoprotein VI (GPVI) (Glycoprotein 6)

Protein function

Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous th

PDB

2GI7 , 5OU7 , 5OU8 , 5OU9 , 7NMU , 7R58

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13895	Ig_2	27 → 107	Immunoglobulin domain	Domain
PF13895	Ig_2	113 → 202	Immunoglobulin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Megakaryocytes and platelets. {ECO:0000269|PubMed:10961879}.

Sequence

MSPSPTALFCLGLCLGRVPAQSGPLPKPSLQALPSSLVPLEKPVTLRCQGPPGVDLYRLE
KLSSSRYQDQAVLFIPAMKRSLAGRYRCSYQNGSLWSLPSDQLELVATGVFAKPSLSAQP
GPAVSSGGDVTLQCQTRYGFDQFALYKEGDPAPYKNPERWYRASFPIITVTAAHSGTYRC
YSFSSRDPYLWSAPSDPLELVVTGTSVTPSRLPTEPPSPVAEFSEATAELTVSFTNEVFT
TETSRSITASPKESDSPAGPARQYYTKGNLVRICLGAVILIILAGFLAEDWHSRRKRLRH
RGRAVQRPLPPLPPLPLTRKSNGGQDGGRQDVHSRGLCS

Sequence length

339

Interactions

View interactions

	KEGG		Reactome
	ECM-receptor interaction Platelet activation		GPVI-mediated activation cascade Cell surface interactions at the vascular wall Platelet Adhesion to exposed collagen

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Platelet-type bleeding disorder 11	Pathogenic; Likely pathogenic	rs778336022, rs754929349, rs760074158, rs2146873791	RCV005361593 RCV002254221 RCV003148294 RCV000023461 RCV000023463

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Uncertain significance; Conflicting classifications of pathogenicity	rs1321226182, rs199588110	RCV000851758 RCV001270564
Acute myeloid leukemia	Benign	rs45545635, rs45512392, rs61145631, rs41275822	RCV005915479 RCV005921831 RCV005923819 RCV005891411
Cervical cancer	Benign	rs41275822	RCV005891414
Cholangiocarcinoma	Benign	rs45545635	RCV005915481
Colon adenocarcinoma	Benign	rs41275822	RCV005891410
Colorectal cancer	Benign	rs41275822	RCV005891415
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs61145631, rs28969501	RCV005923823 RCV005903838
GP6-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs368531531, rs201025246, rs760157972, rs115934645, rs775183932, rs2304166, rs372168591, rs373346261, rs368522136, rs541786453, rs2516857854, rs761185718, rs28969501, rs74697203	RCV003956408 RCV003946338 RCV003906317 RCV003963435 RCV003926633 RCV003891885 RCV004758281 RCV004758282 RCV003956619 RCV003923868 RCV003982076 RCV003960688 RCV003978314 RCV003962891
Hepatocellular carcinoma	Benign	rs61145631, rs41275822	RCV005923820 RCV005891412
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs45512392, rs28969501	RCV005921833 RCV005903840
Malignant lymphoma, large B-cell, diffuse	Benign	rs45512392, rs61145631, rs5030705	RCV005921832 RCV005923821 RCV005891419
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs28969501	RCV005903837
Nonpapillary renal cell carcinoma	Benign	rs41275822	RCV005891413
Ovarian serous cystadenocarcinoma	Benign	rs45545635, rs61145631, rs41275822	RCV005915480 RCV005923824 RCV005891417
Sarcoma	Benign	rs61145631, rs41275822	RCV005923822 RCV005891416
Thrombocytopenia	Conflicting classifications of pathogenicity	rs199588110	RCV001270564
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs28969501	RCV005903839
Uterine carcinosarcoma	Benign	rs5030705	RCV005891420
Uterine corpus endometrial carcinoma	Benign	rs45512392, rs41275822	RCV005921834 RCV005891418

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Associate	25086789
Abortion Spontaneous	Associate	25086789
Alzheimer Disease	Associate	32812532
Androgen Insensitivity Syndrome	Associate	34867780
Blood Platelet Disorders	Associate	15010364, 17690106, 18826391, 20526338, 20723028, 23168074, 23580446, 25645904, 26330203, 28300459, 30213874, 30545925, 30721642, 35041713, 35596611, 35955827, 36736831, 37302266 View all (3 more)
Blood Platelet Disorders	Stimulate	28004756
Brain Ischemia	Associate	19686349
Carcinogenesis	Inhibit	32315343
Carcinoma Hepatocellular	Inhibit	38143739
Cardiovascular Diseases	Associate	19686349, 20723028, 23411630, 26330203
Carotid Artery Thrombosis	Associate	28004756
Cerebral Infarction	Associate	23168074
Cognition Disorders	Associate	32812532
Colorectal Neoplasms	Associate	32655010
Coronary Disease	Associate	17105818
Death	Associate	27761580
Diabetes Mellitus	Associate	21854539
Diabetes Mellitus Type 2	Associate	33076381
Endometrial Neoplasms	Associate	32315343
Fetal Diseases	Associate	25086789
Genetic Diseases Inborn	Associate	32917333
Gray Platelet Syndrome	Associate	15010364
Heart Failure	Associate	28953486
Hematologic Diseases	Associate	32098966
Hemorrhage	Associate	12359731, 23815599, 28953486, 35596611
Hemorrhagic Stroke	Associate	35041713
Hyperplasia	Inhibit	32833579
Hypersensitivity Immediate	Associate	23168074
Immunologic Deficiency Syndromes	Inhibit	17059472, 19522742, 32627625
Ischemic Attack Transient	Associate	19686349
Leukemia Lymphocytic Chronic B Cell	Inhibit	34912339
Leukemia Myeloid Acute	Associate	32098966
Melanoma	Associate	1715582
Multiple Sclerosis Chronic Progressive	Stimulate	39613182
Myelodysplastic Syndromes	Associate	32098966
Myocardial Infarction	Associate	19686349, 20227257, 20723028, 25093390, 28004756
Neoplasm Metastasis	Stimulate	32315343
Neoplasms	Associate	32655010, 34290095
Neoplasms Adipose Tissue	Associate	32655010
Noonan Syndrome	Associate	37302266
Obesity	Associate	30658193, 33147989
Papillomavirus Infections	Associate	32859640
Parkinson Disease	Associate	33021140
Prostatic Neoplasms	Associate	23555315
Pulmonary Disease Chronic Obstructive	Inhibit	32440109
Purpura Thrombocytopenic Idiopathic	Associate	35561312
ST Elevation Myocardial Infarction	Associate	28004756
Stroke	Associate	10339462, 19686349
Stroke	Stimulate	35041713
Thrombocytopenia	Associate	36736831
Thrombosis	Associate	17059472, 17690106, 18826391, 19459133, 19686349, 20227257, 22431567, 23815599, 30545925, 30721642, 32627625, 35561312, 35955827, 37302266, 38236412
Uterine Cervical Dysplasia	Associate	36768853
Uterine Cervical Neoplasms	Associate	25743824
Vascular System Injuries	Associate	10468872
Venous Thromboembolism	Associate	19278955, 23150947, 27761580, 37537391
Venous Thrombosis	Associate	18349091
von Willebrand Disease Type 1	Associate	15226188

GP6 (glycoprotein VI platelet)