mutLBSgeneDB |
Gene summary for P2RY12 |
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Basic gene Info. | Gene symbol | P2RY12 |
Gene name | purinergic receptor P2Y, G-protein coupled, 12 | |
Synonyms | ADPG-R|BDPLT8|HORK3|P2T(AC)|P2Y(12)R|P2Y(AC)|P2Y(ADP)|P2Y(cyc)|P2Y12|SP1999 | |
Cytomap | UCSC genome browser: 3q24-q25 | |
Type of gene | protein-coding | |
RefGenes | NM_022788.4, NM_176876.2, | |
Description | ADP-glucose receptorG-protein coupled receptor SP1999Gi-coupled ADP receptor HORK3P2Y purinoceptor 12P2Y12 platelet ADP receptorpurinergic receptor P2RY12putative G-protein coupled receptor | |
Modification date | 20141222 | |
dbXrefs | MIM : 600515 | |
HGNC : HGNC | ||
HPRD : 02743 | ||
Protein | UniProt: Q9H244 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_P2RY12 | |
BioGPS: 64805 | ||
Pathway | NCI Pathway Interaction Database: P2RY12 | |
KEGG: P2RY12 | ||
REACTOME: P2RY12 | ||
Pathway Commons: P2RY12 | ||
Context | iHOP: P2RY12 | |
ligand binding site mutation search in PubMed: P2RY12 | ||
UCL Cancer Institute: P2RY12 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
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GO ID | GO Term | PubMed ID | GO:0007186 | G-protein coupled receptor signaling pathway | 11104774 | GO:0035589 | G-protein coupled purinergic nucleotide receptor signaling pathway | 11104774 |
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Ligand binding site mutations for P2RY12 |
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LBS | AAchange of nsSNV | Cancer type | # samples | I120 | D121N | UCEC | 2 | S176 | S176Y | COAD | 1 | S55 | I53T | KIRC | 1 | I204 | V205F | LUAD | 1 | C97 | Q98H | STAD | 1 | K64 | L63F | STAD | 1 | R93 | L92P | STAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for P2RY12 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | K64 | L63F | -1.6012913 | I204 | V205F | -1.1604235 | S55 | I53T | -1.0225263 | R93 | L92P | -0.92007922 | C97 | Q98H | -0.81766094 | I120 | D121N | -0.6773079 | S176 | S176Y | -0.22254506 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
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PDB ID | PDB title | PDB structure | 4NTJ | Structure of the human P2Y12 receptor in complex with an antithrombotic drug | ![]() |
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Differential gene expression and gene-gene network for P2RY12 |
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Phenotype information for P2RY12 |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0027051 | Myocardial Infarction | 5 | Biomarker, GeneticVariation |
umls:C0040053 | Thrombosis | 2 | Biomarker |
umls:C0019080 | Hemorrhage | 2 | Biomarker, GeneticVariation |
umls:C1853278 | Bleeding Disorder Due To P2RY12 Defect | 1 | Biomarker, GeneticVariation |
umls:C0024141 | Lupus Erythematosus, Systemic | 1 | AlteredExpression, Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for P2RY12 |
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Drug status | DrugBank ID | Name | Type | Drug structure |
Approved | DB00208 | Ticlopidine | Small molecule | ![]() |
Approved|investigational | DB00374 | Treprostinil | Small molecule | ![]() |
Approved|nutraceutical | DB00758 | Clopidogrel | Small molecule | ![]() |
Approved | DB01240 | Epoprostenol | Small molecule | ![]() |
Investigational | DB04902 | AZD6140 | Small molecule | ![]() |
Approved | DB06209 | Prasugrel | Small molecule | ![]() |
Approved | DB06441 | Cangrelor | Small molecule | ![]() |
Approved | DB08816 | Ticagrelor | Small molecule | ![]() |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CLR | CHOLESTEROL | 4ntj | A | I120 I204 | 6AD | 2-METHYLTHIO-ADENOSINE-5'-DIPHOSPHATE | 2-(METHYLSULFANYL)ADENOSINE 5'-(TRIHYDROGEN DIPHOSPHATE) | 4pxz | A | R93 C97 | 6AT | 2-METHYLTHIO-ADENOSINE-5'-TRIPHOSPHATE | 2-(METHYLSULFANYL)ADENOSINE 5'-(TETRAHYDROGEN TRIPHOSPHATE) | 4py0 | A | R93 C97 S176 | CLR | CHOLESTEROL | 4pxz | A | S55 K64 |
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Conservation information for LBS of P2RY12 |
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LBS | AA sequence | # species | Species | C175 | KNVKKCSFLKS | 1 | Homo sapiens | C175 | KDVTKCSFLKS | 1 | Mus musculus | C175 | KDITKCSFLKS | 1 | Rattus norvegicus | C194 | IVNYICQVIFW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C97 | LRTLVCQVTSV | 2 | Mus musculus, Rattus norvegicus | C97 | LRTFVCQVTSV | 1 | Homo sapiens | F106 | SVTFYFTMYIS | 2 | Mus musculus, Rattus norvegicus | F106 | SVIFYFTMYIS | 1 | Homo sapiens | F153 | IWAFMFLLSLP | 2 | Homo sapiens, Rattus norvegicus | F153 | IWAFMFLISLP | 1 | Mus musculus | F252 | ICFVPFHFARI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H187 | FGLVWHEIVNY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I120 | LGLITIDRYLK | 2 | Mus musculus, Rattus norvegicus | I120 | LGLITIDRYQK | 1 | Homo sapiens | I200 | QVIFWINFLIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I204 | WINFLIVIVCY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I23 | TRDYKITQVLF | 1 | Homo sapiens | I23 | VRDYKITQVLF | 1 | Mus musculus | I23 | SRDYKITQVLF | 1 | Rattus norvegicus | I61 | KSNFIIFLKNT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I68 | LKNTVISDLLM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K142 | NLLGAKILSVV | 2 | Homo sapiens, Mus musculus | K142 | NLLGAKILSVA | 1 | Rattus norvegicus | K173 | RDKNVKKCSFL | 1 | Homo sapiens | K173 | KDKDVTKCSFL | 1 | Mus musculus | K173 | KDKDITKCSFL | 1 | Rattus norvegicus | K174 | DKNVKKCSFLK | 1 | Homo sapiens | K174 | DKDVTKCSFLK | 1 | Mus musculus | K174 | DKDITKCSFLK | 1 | Rattus norvegicus | K179 | KCSFLKSEFGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K280 | TLFYVKESTLW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K64 | FIIFLKNTVIS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L155 | AFMFLLSLPNM | 2 | Homo sapiens, Rattus norvegicus | L155 | AFMFLISLPNM | 1 | Mus musculus | L203 | FWINFLIVIVC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L27 | KITQVLFPLLY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L276 | TAENTLFYVKE | 1 | Homo sapiens | L276 | SAENTLFYVKE | 1 | Mus musculus | L276 | NAENTLFYVKE | 1 | Rattus norvegicus | N159 | LLSLPNMILTN | 2 | Homo sapiens, Rattus norvegicus | N159 | LISLPNMILTN | 1 | Mus musculus | N191 | WHEIVNYICQV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N65 | IIFLKNTVISD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q263 | PYTLSQTRAVF | 2 | Mus musculus, Rattus norvegicus | Q263 | PYTLSQTRDVF | 1 | Homo sapiens | R256 | PFHFARIPYTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R93 | GTGPLRTFVCQ | 1 | Homo sapiens | R93 | GAGPLRTLVCQ | 1 | Mus musculus | R93 | GAGHLRTLVCQ | 1 | Rattus norvegicus | S101 | VCQVTSVTFYF | 2 | Mus musculus, Rattus norvegicus | S101 | VCQVTSVIFYF | 1 | Homo sapiens | S156 | FMFLLSLPNMI | 2 | Homo sapiens, Rattus norvegicus | S156 | FMFLISLPNMI | 1 | Mus musculus | S176 | NVKKCSFLKSE | 1 | Homo sapiens | S176 | DVTKCSFLKSE | 1 | Mus musculus | S176 | DITKCSFLKSE | 1 | Rattus norvegicus | S282 | FYVKESTLWLT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S55 | FFQIRSKSNFI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V102 | CQVTSVTFYFT | 2 | Mus musculus, Rattus norvegicus | V102 | CQVTSVIFYFT | 1 | Homo sapiens | V190 | VWHEIVNYICQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V207 | FLIVIVCYSLI | 2 | Mus musculus, Rattus norvegicus | V207 | FLIVIVCYTLI | 1 | Homo sapiens | W149 | LSVVIWAFMFL | 2 | Homo sapiens, Mus musculus | W149 | LSVAIWAFMFL | 1 | Rattus norvegicus | W285 | KESTLWLTSLN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y105 | TSVTFYFTMYI | 2 | Mus musculus, Rattus norvegicus | Y105 | TSVIFYFTMYI | 1 | Homo sapiens | Y109 | FYFTMYISISF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y259 | FARIPYTLSQT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y278 | ENTLFYVKEST | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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