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mutLBSgeneDB |
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| Gene summary for P2RY12 |
 Gene summary |
| 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. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| Cancer type specific mutLBS sorted by frequency |
| 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 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation 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) |
| Structure image for P2RY12 from PDB |
| 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 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for P2RY12 |
| Gene level disease information (DisGeNet) |
| 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 |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for P2RY12 |
| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| 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 |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of P2RY12 go to BioLip |
| 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 |
| Multiple alignments for Q9H244 in multiple species |
| 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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