P2RY12
entrez
64805
canonical
uniprot
Q9H244
canonical
ensembl
ENSG00000169313
resolver
ensp
ENSP00000307259
resolver
ensp
ENSP00000625864
resolver
ensp
ENSP00000625865
resolver
ensp
ENSP00000625866
resolver
enst
ENST00000302632
resolver
enst
ENST00000955805
resolver
enst
ENST00000955806
resolver
enst
ENST00000955807
resolver
genesymbol
P2RY12
resolver
genesymbol_syn
HORK3
resolver
hgnc
HGNC:18124
resolver
uniprot
A8K7T1
resolver
uniprot
D3DNJ5
resolver
uniprot
Q546J7
resolver
uniprot_entry
A8K7T1_HUMAN
resolver
uniprot_entry
P2Y12_HUMAN
resolver
uniprot_sec
D3DNJ5
resolver
uniprot_sec
Q546J7
resolver
amino_acid_sequence
MQAVDNLTSAPGNTSLCTRDYKITQVLFPLLYTVLFFVGLITNGLAMRIFFQIRSKSNFIIFLKNTVISDLLMILTFPFKILSDAKLGTGPLRTFVCQVTSVIFYFTMYISISFLGLITIDRYQKTTRPFKTSNPKNLLGAKILSVVIWAFMFLLSLPNMILTNRQPRDKNVKKCSFLKSEFGLVWHEIVNYICQVIFWINFLIVIVCYTLITKELYRSYVRTRGVGKVPRKKVNVKVFIIIAVFFICFVPFHFARIPYTLSQTRDVFDCTAENTLFYVKESTLWLTSLNACLDPFIYFFLCKSFRNSLISMLKCPNSATSLSQDNRKKEQDGGDPNEETPM
uniprot
proteins
disease_involvement
DISEASE: Bleeding disorder, platelet-type, 8 (BDPLT8) [MIM:609821]: A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:25428217}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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|PubMed:11196645, ECO:0000269|PubMed:11502873, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:24670650, ECO:0000269|PubMed:24784220}.
uniprot
proteins
mass_dalton
39439
uniprot
proteins
mutagenesis
MUTAGEN 80; /note="K->A: Abolishes ADP binding."; /evidence="ECO:0000269|PubMed:24670650"; MUTAGEN 83; /note="S->A: No effect on ADP binding."; /evidence="ECO:0000269|PubMed:24784220"; MUTAGEN 97; /note="C->A: Abolishes ADP binding."; /evidence="ECO:0000269|PubMed:24784220"; MUTAGEN 156; /note="S->A: Slightly decreases affinity for ADP."; /evidence="ECO:0000269|PubMed:24670650"; MUTAGEN 159; /note="N->A: Slightly decreases affinity for ADP."; /evidence="ECO:0000269|PubMed:24670650"; MUTAGEN 175; /note="C->A: Abolishes ADP binding."; /evidence="ECO:0000269|PubMed:24784220"; MUTAGEN 256; /note="R->A: Decreases affinity for ADP."; /evidence="ECO:0000269|PubMed:24784220"; MUTAGEN 280; /note="K->A: Abolishes ADP binding."; /evidence="ECO:0000269|PubMed:24670650, ECO:0000269|PubMed:24784220"; MUTAGEN 281; /note="E->A: Abolishes ADP binding."; /evidence="ECO:0000269|PubMed:24670650
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
11104774
uniprot
proteins
pubmed
11196645
uniprot
proteins
pubmed
11502873
uniprot
proteins
pubmed
12044878
uniprot
proteins
pubmed
12578987
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24670650
uniprot
proteins
pubmed
24784220
uniprot
proteins
pubmed
25428217
uniprot
proteins
sequence_length
342
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:24670650, ECO:0000269|PubMed:24784220}; Multi-pass membrane protein {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:24670650, ECO:0000269|PubMed:24784220}.
uniprot
proteins
transmembrane_region
TRANSMEM 28..50; /note="Helical; Name=1"; TRANSMEM 62..82; /note="Helical; Name=2"; TRANSMEM 98..118; /note="Helical; Name=3"; TRANSMEM 143..162; /note="Helical; Name=4"; TRANSMEM 186..207; /note="Helical; Name=5"; TRANSMEM 234..259; /note="Helical; Name=6"; TRANSMEM 279..298; /note="Helical; Name=7
uniprot
proteins