ENSG00000169313


Homo sapiens

Features
Gene ID: ENSG00000169313
  
Biological name :P2RY12
  
Synonyms : P2RY12 / purinergic receptor P2Y12 / Q9H244
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q25.1
Gene start: 151337380
Gene end: 151384812
  
Corresponding Affymetrix probe sets: 224102_at (Human Genome U133 Plus 2.0 Array)   235885_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000307259
NCBI entrez gene - 64805     See in Manteia.
OMIM - 600515
RefSeq - XM_017007069
RefSeq - NM_022788
RefSeq - NM_176876
RefSeq Peptide - NP_795345
RefSeq Peptide - NP_073625
swissprot - Q9H244
Ensembl - ENSG00000169313
  
Related genetic diseases (OMIM): 609821 - Bleeding disorder, platelet-type, 8, 609821
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 p2ry12ENSDARG00000069945Danio rerio
 P2RY12ENSGALG00000036470Gallus gallus
 P2ry12ENSMUSG00000036353Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P2RY13 / Q9BPV8 / purinergic receptor P2Y13ENSG0000018163146
P2RY14 / Q15391 / purinergic receptor P2Y14ENSG0000017494443
GPR87 / Q9BY21 / G protein-coupled receptor 87ENSG0000013827139
GPR171 / O14626 / G protein-coupled receptor 171ENSG0000017494630
GPR34 / Q9UPC5 / G protein-coupled receptor 34ENSG0000017165929
GPR82 / Q96P67 / G protein-coupled receptor 82ENSG0000017165720


Protein motifs (from Interpro)
Interpro ID Name
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR005394  P2Y12 purinoceptor
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001973 adenosine receptor signaling pathway IEA
 biological_processGO:0006930 substrate-dependent cell migration, cell extension IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IMP
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007599 hemostasis NAS
 biological_processGO:0008347 glial cell migration IEA
 biological_processGO:0010700 negative regulation of norepinephrine secretion IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030168 platelet activation IEA
 biological_processGO:0035589 G-protein coupled purinergic nucleotide receptor signaling pathway IEA
 biological_processGO:0043270 positive regulation of ion transport IEA
 biological_processGO:0043491 protein kinase B signaling IEA
 biological_processGO:0045596 negative regulation of cell differentiation IEA
 biological_processGO:0051924 regulation of calcium ion transport IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0070527 platelet aggregation IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0071318 cellular response to ATP IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:1904139 regulation of microglial cell migration IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0005901 caveola IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009925 basal plasma membrane IEA
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031224 intrinsic component of membrane IDA
 molecular_functionGO:0001609 G-protein coupled adenosine receptor activity IEA
 molecular_functionGO:0001621 ADP receptor activity IMP
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0045028 G-protein coupled purinergic nucleotide receptor activity IEA


Pathways (from Reactome)
Pathway description
ADP signalling through P2Y purinoceptor 12
P2Y receptors
G alpha (i) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000978 Ecchymoses 
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 HP:0001934 Persistent bleeding after trauma 
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 HP:0004846 severe protracted bleeding after surgery 
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 HP:0004866 platelets show impaired aggregation in response to adp 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000114353 GNAI2 / P04899 / G protein subunit alpha i2  / reaction / complex
 ENSG00000186469 GNG2 / P59768 / G protein subunit gamma 2  / reaction / complex
 ENSG00000127955 GNAI1 / P63096 / G protein subunit alpha i1  / reaction / complex
 ENSG00000065135 GNAI3 / P08754 / G protein subunit alpha i3  / reaction / complex
 ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1  / reaction / complex
 ENSG00000214415 GNAT3 / A8MTJ3 / G protein subunit alpha transducin 3  / complex / reaction






 

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