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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64805
Gene name	Purinergic receptor P2Y12
Gene symbol	P2RY12
Synonyms (NCBI Gene)	ADPG-RBDPLT8HORK3P2T(AC)P2Y(12)RP2Y(AC)P2Y(ADP)P2Y(cyc)P2Y12SP1999
Chromosome	3
Chromosome location	3q25.1
Summary	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 assayWestern blottingqRT-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 (56)

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	IEA
GO:0001621	Function	G protein-coupled ADP receptor activity	IMP	12578987
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	17299767
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006930	Process	Substrate-dependent cell migration, cell extension	IEA
GO:0006930	Process	Substrate-dependent cell migration, cell extension	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	11104774
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
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	20091784
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0007599	Process	Hemostasis	NAS	11196645
GO:0009986	Component	Cell surface	HDA	23382103
GO:0016020	Component	Membrane	IDA	12578987
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0021801	Process	Cerebral cortex radial glia-guided migration	ISS
GO:0030030	Process	Cell projection organization	ISS
GO:0030032	Process	Lamellipodium assembly	ISS
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	TAS
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:0035589	Process	G protein-coupled purinergic nucleotide receptor signaling pathway	IEA
GO:0043270	Process	Positive regulation of monoatomic ion transport	IEA
GO:0044298	Component	Cell body membrane	IEA
GO:0045028	Function	G protein-coupled purinergic nucleotide receptor activity	IBA
GO:0045028	Function	G protein-coupled purinergic nucleotide receptor activity	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:0051649	Process	Establishment of localization in cell	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS	20091784
GO:0070527	Process	Platelet aggregation	IMP	12578987
GO:0071318	Process	Cellular response to ATP	IEA
GO:0071318	Process	Cellular response to ATP	ISS
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:1904139	Process	Regulation of microglial cell migration	IEA
GO:1904139	Process	Regulation of microglial cell migration	ISS
GO:1904141	Process	Positive regulation of microglial cell migration	ISS	20091784
GO:1904141	Process	Positive regulation of microglial cell migration	TAS	28912710

MIM	HGNC	e!Ensembl
600515	18124	ENSG00000169313

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal platelet function	Likely pathogenic	rs1577367082	RCV000852145
Impaired ADP-induced platelet aggregation	Likely pathogenic; Pathogenic	rs755459581	RCV000851950
P2RY12-related disorder	Likely pathogenic	rs923308300	RCV003966918
Platelet-type bleeding disorder 8	Pathogenic; Likely pathogenic	rs1560045738, rs2473271725, rs755459581	RCV000009649 RCV003314541 RCV000661901

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Uncertain significance; Benign	rs202099742, rs778790805	RCV001270569 RCV001270568
Thrombocytopenia	Uncertain significance; Benign	rs202099742, rs778790805	RCV001270569 RCV001270568

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)