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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64805
Gene name Gene Name - the full gene name approved by the HGNC.	Purinergic receptor P2Y12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	P2RY12
Synonyms (NCBI Gene) Gene synonyms aliases	ADPG-R, BDPLT8, HORK3, P2T(AC), P2Y(12)R, P2Y(AC), P2Y(ADP), P2Y(cyc), P2Y12, SP1999
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BDPLT8
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor

Show/Hide all(6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734348	hsa-miR-605-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31766967
MIRT1209011	hsa-miR-223	CLIP-seq
MIRT1209012	hsa-miR-3977	CLIP-seq
MIRT1209013	hsa-miR-4778-3p	CLIP-seq
MIRT1209014	hsa-miR-889	CLIP-seq
MIRT1209015	hsa-miR-935	CLIP-seq

Show/Hide all(55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001609	Function	G protein-coupled adenosine receptor activity	IEA
GO:0001621	Function	G protein-coupled ADP receptor activity	IDA	11104774
GO:0001621	Function	G protein-coupled ADP receptor activity	IMP	12578987
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005739	Component	Mitochondrion	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	17299767
GO:0005901	Component	Caveola	IEA
GO:0006930	Process	Substrate-dependent cell migration, cell extension	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	11104774
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IMP	12578987
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0007202	Process	Activation of phospholipase C activity	TAS	20091784
GO:0007599	Process	Hemostasis	NAS	11196645
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	23382103
GO:0010700	Process	Negative regulation of norepinephrine secretion	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0021808	Process	Cytosolic calcium signaling involved in initiation of cell movement in glial-mediated radial cell migration	ISS
GO:0030030	Process	Cell projection organization	ISS
GO:0030032	Process	Lamellipodium assembly	ISS
GO:0031224	Component	Intrinsic component of membrane	IDA	12578987
GO:0031253	Component	Cell projection membrane	IEA
GO:0033626	Process	Positive regulation of integrin activation by cell surface receptor linked signal transduction	ISS
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	ISS
GO:0035585	Process	Calcium-mediated signaling using extracellular calcium source	ISS
GO:0035589	Process	G protein-coupled purinergic nucleotide receptor signaling pathway	IEA
GO:0043270	Process	Positive regulation of ion transport	IEA
GO:0043491	Process	Protein kinase B signaling	IEA
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	TAS	20091784
GO:0044298	Component	Cell body membrane	IEA
GO:0045028	Function	G protein-coupled purinergic nucleotide receptor activity	IBA	21873635
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0048678	Process	Response to axon injury	ISS
GO:0050920	Process	Regulation of chemotaxis	ISS
GO:0050920	Process	Regulation of chemotaxis	TAS	17299767
GO:0050921	Process	Positive regulation of chemotaxis	ISS
GO:0051897	Process	Positive regulation of protein kinase B signaling	ISS
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0070527	Process	Platelet aggregation	IMP	12578987
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071318	Process	Cellular response to ATP	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0150063	Process	Visual system development	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	ISS
GO:1900029	Process	Positive regulation of ruffle assembly	TAS	17299767
GO:1904124	Process	Microglial cell migration	TAS	28912710
GO:1904139	Process	Regulation of microglial cell migration	ISS
GO:1904141	Process	Positive regulation of microglial cell migration	ISS
GO:1904141	Process	Positive regulation of microglial cell migration	TAS	20091784

MIM	HGNC	e!Ensembl
600515	18124	ENSG00000169313

Protein

UniProt ID

Q9H244

Protein name

P2Y purinoceptor 12 (P2Y12) (ADP-glucose receptor) (ADPG-R) (P2T(AC)) (P2Y(AC)) (P2Y(cyc)) (P2Y12 platelet ADP receptor) (P2Y(ADP)) (SP1999)

Protein function

Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation. {ECO:0000269|PubMed:11104774, ECO:0000269|Pub

PDB

4NTJ , 4PXZ , 4PY0 , 7PP1 , 7XXI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	42 → 298	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the platelets, lower levels in the brain. Lowest levels in the lung, appendix, pituitary and adrenal gland. Expressed in the spinal cord and in the fetal brain. {ECO:0000269|PubMed:11104774, ECO:0000269|PubMed:11196

Sequence

MQAVDNLTSAPGNTSLCTRDYKITQVLFPLLYTVLFFVGLITNGLAMRIFFQIRSKSNFI
IFLKNTVISDLLMILTFPFKILSDAKLGTGPLRTFVCQVTSVIFYFTMYISISFLGLITI
DRYQKTTRPFKTSNPKNLLGAKILSVVIWAFMFLLSLPNMILTNRQPRDKNVKKCSFLKS
EFGLVWHEIVNYICQVIFWINFLIVIVCYTLITKELYRSYVRTRGVGKVPRKKVNVKVFI
IIAVFFICFVPFHFARIPYTLSQTRDVFDCTAENTLFYVKESTLWLTSLNACLDPFIYFF
LCKSFRNSLISMLKCPNSATSLSQDNRKKEQDGGDPNEETPM

Sequence length

342

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis Platelet activation		ADP signalling through P2Y purinoceptor 12 P2Y receptors G alpha (i) signalling events

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Bleeding disorder	Bleeding disorder due to P2Y12 defect	rs121918444, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948
Platelet-type bleeding disorder	Bleeding Disorder Due To P2RY12 Defect	rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972 View all (26 more)	12578987, 11196645, 25428217

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Myocardial infarction	Myocardial Infarction		19334620	ClinVar

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text Mining
AA amyloidosis	Associate	35247551
Acute Coronary Syndrome	Associate	28070995, 28383427, 31766967, 34918066
Adenocarcinoma of Lung	Associate	33318300
Alzheimer Disease	Associate	31703599, 31968618, 35247551
Angina Unstable	Associate	31766967
Astrocytoma	Associate	28073370
Blood Platelet Disorders	Associate	16194207, 17995973, 18577829, 22022533, 23647895, 24612435, 24745016, 27566695, 28383427, 29117459, 30406277, 36681816
Cardiovascular Diseases	Associate	26870959, 28383427
Cerebral Infarction	Associate	27133299, 27233747, 37208337
Chronic Disease	Associate	24612435
Constriction Pathologic	Associate	38532720
Conversion Disorder	Associate	16194207
Corneal Endothelial Cell Loss	Associate	36169256
Coronary Artery Disease	Associate	17803810, 17995973, 18213371, 19429918, 22574824, 27566695, 32256707, 37589138
Coronary Disease	Associate	27488401, 27566695
COVID 19	Stimulate	35091759
Cushing's symphalangism	Associate	30406277
Death	Associate	28383427
Depressive Disorder Major	Associate	34706460
Diabetes Mellitus	Associate	25052834
Diabetes Mellitus Type 2	Associate	25052834
Drug Hypersensitivity	Stimulate	35191835
Epilepsy	Associate	35175489
Epilepsy Frontal Lobe	Associate	34706460
Fatty Liver	Associate	36743859
Glioblastoma	Associate	35939198
Glioma	Associate	28073370, 33408717, 35939198
Hemorrhage	Associate	12578987, 23387322, 24612435, 25901734, 29117459, 30406277, 33707344
Hemorrhage	Inhibit	21679849
Hemorrhage	Stimulate	37899583
Hereditary Diffuse Leukoencephalopathy with Spheroids	Inhibit	32430064
Hyperuricemia	Associate	32845391
Inflammation	Associate	28073370, 31591378, 34911938, 36169256
Intracranial Arteriosclerosis	Associate	35249906
Kidney Failure Chronic	Associate	38532720
Lung Neoplasms	Inhibit	32638267
Lupus Erythematosus Systemic	Associate	15304052
Melanoma	Associate	31591378
Meningioma	Associate	36115056
Mental Disorders	Inhibit	34911938
Mouth Neoplasms	Associate	24040168
Mucocutaneous Lymph Node Syndrome	Associate	32256707
Multiple Sclerosis	Associate	30867424, 34207429
Multiple Sclerosis Chronic Progressive	Associate	34207429
Myocardial Infarction	Associate	25093390, 30143348, 33707344, 34465804, 36681816
Neoplasm Metastasis	Associate	35939198
Neoplasms	Associate	28073370, 31591378, 33318300, 36115056
Netherton Syndrome	Inhibit	34706460
Neuralgia	Associate	35266813
Neurodegenerative Diseases	Associate	33527700
Neurologic Manifestations	Associate	32345264
Optic Neuropathy Ischemic	Associate	34918066
Ovarian Neoplasms	Associate	26353776
Pain	Associate	35266813, 36646400
Parkinson Disease	Associate	33021140, 33502028
Peripheral Arterial Disease	Associate	17803810, 18213371
Phantom Limb	Associate	35266813
Seizures	Associate	35175489
ST Elevation Myocardial Infarction	Associate	25901734
Tauopathies	Associate	33527700
Thrombosis	Associate	16194207, 17127487, 30406277, 31591378, 38597172
Tomaculous neuropathy	Associate	16194207
Vascular Diseases	Associate	36169256

P2RY12 (purinergic receptor P2Y12)