PEAR1

Summary

PEAR1 (platelet endothelial aggregation receptor 1, HGNC:33631) is a protein-coding gene on chromosome 1q23.1, encoding Platelet endothelial aggregation receptor 1 (Q5VY43). Required for SVEP1-mediated platelet activation, via its interaction with SVEP1 and subsequent activation of AKT/mTOR signaling.

PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).

Source: NCBI Gene 375033 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 196 total
• MANE Select transcript: NM_001080471

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33631
Approved symbol	PEAR1
Name	platelet endothelial aggregation receptor 1
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Aliases	JEDI, FLJ00193
Ensembl gene	ENSG00000187800
Ensembl biotype	protein_coding
OMIM	610278
Entrez	375033

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000292357, ENST00000338302, ENST00000444016, ENST00000455314, ENST00000465101, ENST00000469390, ENST00000482505, ENST00000858321, ENST00000858322, ENST00000858323, ENST00000858324, ENST00000858325, ENST00000858326, ENST00000971373

RefSeq mRNA: 3 — MANE Select: NM_001080471 NM_001080471, NM_001353682, NM_001353683

CCDS: CCDS30892

Canonical transcript exons

ENST00000292357 — 23 exons

Exon	Start	End
ENSE00001195666	156908128	156908340
ENSE00001258974	156907915	156908051
ENSE00001446537	156914647	156916429
ENSE00001446541	156904748	156904852
ENSE00001446542	156903918	156904027
ENSE00001548385	156893718	156893837
ENSE00003469171	156907610	156907730
ENSE00003503817	156913852	156914100
ENSE00003528790	156910234	156910380
ENSE00003544340	156909751	156909914
ENSE00003596278	156908655	156908829
ENSE00003599988	156912494	156912622
ENSE00003601462	156912770	156912982
ENSE00003601640	156910006	156910108
ENSE00003602031	156910618	156910743
ENSE00003602415	156912247	156912375
ENSE00003629329	156913391	156913523
ENSE00003637495	156905324	156905424
ENSE00003668744	156906276	156906368
ENSE00003681941	156913692	156913760
ENSE00003683200	156906637	156906880
ENSE00003683358	156908916	156909036
ENSE00003686135	156913194	156913282

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 93.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6736 / max 134.6436, expressed in 920 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5790	6.1601	870
5789	0.3997	247
5793	0.1138	49

Top tissues by expression

244 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	93.65	gold quality
sural nerve	UBERON:0015488	92.51	gold quality
left coronary artery	UBERON:0001626	91.62	gold quality
peripheral nervous system	UBERON:0000010	91.10	gold quality
tibial nerve	UBERON:0001323	91.10	gold quality
coronary artery	UBERON:0001621	91.05	gold quality
right lung	UBERON:0002167	90.82	gold quality
apex of heart	UBERON:0002098	90.72	gold quality
subcutaneous adipose tissue	UBERON:0002190	90.28	gold quality
omental fat pad	UBERON:0010414	89.55	gold quality
peritoneum	UBERON:0002358	89.47	gold quality
endocervix	UBERON:0000458	89.19	gold quality
popliteal artery	UBERON:0002250	89.03	gold quality
adipose tissue of abdominal region	UBERON:0007808	89.02	gold quality
tibial artery	UBERON:0007610	89.01	gold quality
tendon of biceps brachii	UBERON:0008188	88.40	gold quality
upper lobe of left lung	UBERON:0008952	88.07	gold quality
body of uterus	UBERON:0009853	87.55	gold quality
adipose tissue	UBERON:0001013	87.15	gold quality
right ovary	UBERON:0002118	87.15	gold quality
upper lobe of lung	UBERON:0008948	86.97	gold quality
aorta	UBERON:0000947	86.96	gold quality
heart left ventricle	UBERON:0002084	86.44	gold quality
left uterine tube	UBERON:0001303	86.41	gold quality
right lobe of thyroid gland	UBERON:0001119	86.22	gold quality
left ovary	UBERON:0002119	86.06	gold quality
cardiac ventricle	UBERON:0002082	86.01	gold quality
ectocervix	UBERON:0012249	85.95	gold quality
mucosa of stomach	UBERON:0001199	85.89	gold quality
metanephros cortex	UBERON:0010533	85.58	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.05
E-MTAB-6678	no	3.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting PEAR1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-1251-3P	99.64	67.21	1408

Literature-anchored findings (GeneRIF, showing 36)

• PEAR1 is a novel platelet receptor that signals secondary to alpha(IIb)beta(3)-mediated platelet-platelet contacts (PMID:15851471)
• C allele of PEAR1 (Platelet endothelial aggregation receptor-1)was generally associated in both ethnic groups with increased aggregation of native platelets (PMID:18511696)
• A specific intronic PEAR1 gene variant is ientified that associated with greater platelet aggregability and protein expression. (PMID:21791418)
• A-allele carriers of rs12041331 in the platelet endothelial aggregation receptor-1 (PEAR1) gene were more likely to experience a cardiovascular event or death compared with GG homozygotes (PMID:23392654)
• PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway. (PMID:23667054)
• additional exonic variants in PEAR1 that may also determine variability in platelet aggregation, were identified. (PMID:23704978)
• The SNPs in two regions of the PEAR1 gene, from rs3737224 to rs822442, and from rs1214331 to rs12566888, probably play important roles in prasugrel pharmacodynamics (PMID:23859572)
• A common genetic variant in PEAR1 (rs12041331) reproducibly influenced platelet aggregation in aspirin-treated patients with coronary artery disease. (PMID:25360888)
• study suggests that PEAR1 is not a hypertension susceptibility gene in humans. (PMID:25541647)
• genetic variability of GAS6 and PEAR1 genes may be associated with platelet hyperaggregability (PMID:25703520)
• FcepsilonRI alpha-chain is an activating platelet endothelium aggregation receptor 1 (PEAR1) ligand. (PMID:25713122)
• Platelet endothelial aggregation receptor-1: a novel modifier of neoangiogenesis. (PMID:26156496)
• Results suggest that genetic variation of PEAR1 is a significant determinant of endothelial function through pathways implicated in cardiovascular disease. (PMID:26406321)
• PEAR1 genetic variations were strongly associated with platelet reactivity in a Chinese patient population with coronary heart disease undergoing dual antiplatelet therapy with aspirin and clopidogrel. (PMID:26962983)
• DNA methylation at 4 different loci of PEAR1 during in vitro megakaryopoiesis, was studied. (PMID:27313330)
• A considerable portion of Chinese ischemic stroke patients are insensitive to aspirin treatment, which may be correlated with the MDR1 C3435T, TBXA2R (rs1131882), and PLA2G7 (rs1051931-rs7756935) polymorphisms. (PMID:27641736)
• PEAR1 rs12041331 polymorphism may influence ticagrelor pharmacodynamics (PMID:27937053)
• in a Chinese pedigree, SNP rs778026543, but not rs1952294 and rs822442, may be a susceptibility for pulmonary thromboembolism (PMID:28002340)
• In a White population, we could not replicate previous reports from experimental studies or obtained in patients suggesting that PEAR1 might be a susceptibility gene for cardiovascular complications (PMID:28449647)
• PEAR1 rs56260937 minor allele was an independent predictor of revascularization events. (PMID:29212986)
• For Chinese patients with ACS treated with aspirin and clopidogrel, genetic mutations in rs822441/rs822442 in PEAR1 correlated significantly with platelet activity after adjusting for CYP2C19 *2/*3 alleles. (PMID:29407631)
• PEAR1 methylation corresponded to variability in expression of ISGL20L2, RRNAD1, MRLP24, HDGF and PRCC. (PMID:29614055)
• association of SNPs of PEAR1, P2Y12, and UGT2A1 with platelet reactivity in 290 Chinese patients with acute coronary syndrome treated with aspirin and clopidogrel (PMID:29635252)
• PEAR1 polymorphisms did not indicate susceptibility for Kawasaki disease (KD) occurrence but the rs12041331 polymorphism was associated with increased risk of coronary artery aneurysm formation in KD. (PMID:30256383)
• Results establish PEAR1 as the major signaling receptor for natural fucose-based polysaccharides and synthetic glycopolymers in human, but not in mouse, platelets. (PMID:30700416)
• About 15% of Chinese patients undergoing coronary stent implantation for acute coronary syndrome or stable coronary artery disease were AA homozygotes for PEAR1 rs12041331. These patients had approximately 3-fold increase in MACE risk at 30 days. (PMID:31018667)
• AA genotype at 106PEAR1 (G>A) might be an independent risk factor for Recurrent Ischemic Stroke in Chinese patient. (PMID:31335702)
• Study reports that PEAR1 methylation is a marker of platelet activation and whole blood cells count variability, in turn regulating the underlying inflammatory status of an individual. (PMID:31665082)
• PEAR1 acts as a negative regulator in the proliferation of pulmonary microvascular endothelial cells in acute lung injury model via the PI3K/AKT pathway. (PMID:31678362)
• PEAR1 polymorphisms as a prognostic factor in hemostasis and cardiovascular diseases. (PMID:32445063)
• Lower Platelet Aggregation Is a Risk Factor for Dual Antiplatelet Therapy-Associated Bleeding: A Preliminary Retrospective Study with Genotype Analysis. (PMID:32541641)
• Genetic Variation in PEAR1, Cardiovascular Outcomes and Effects of Aspirin in a Healthy Elderly Population. (PMID:32562573)
• Genetic variants of PEAR1 and ischemic clinical outcomes in coronary artery disease patients: a systematic review and meta-analysis. (PMID:34075782)
• PEAR1 is a potential regulator of early hematopoiesis of human pluripotent stem cells. (PMID:36436185)
• Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated with Serum sIgE and Blood Eosinophil Levels in Chinese Patients with Allergic Diseases. (PMID:38299390)
• Effect of PEAR1, PTGS1 gene polymorphisms on the recurrence of aspirin-treated patients with ischemic stroke in the Han population of China: A 4-year follow-up study. (PMID:38728491)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pear1	ENSMUSG00000028073
rattus_norvegicus	Pear1	ENSRNOG00000014243
drosophila_melanogaster	NimA	FBGN0261514

Paralogs (1): DLK1 (ENSG00000185559)

Protein

Protein identifiers

Platelet endothelial aggregation receptor 1 — Q5VY43 (reviewed: Q5VY43)

Alternative names: Multiple epidermal growth factor-like domains protein 12

All UniProt accessions (3): A6PVP2, Q5VY43, F2Z2F7

UniProt curated annotations — full annotation on UniProt →

Function. Required for SVEP1-mediated platelet activation, via its interaction with SVEP1 and subsequent activation of AKT/mTOR signaling. May be involved in the early stages of hematopoiesis.

Subunit / interactions. Interacts with SHC2 upon its aggregation-induced tyrosine phosphorylation. Interacts (via extracellular domain) with SVEP1.

Subcellular location. Cell membrane. Cell projection. Lamellipodium.

Tissue specificity. Expressed in umbilical vein endothelial cells and platelets (at protein level). Expressed in coronary artery smooth muscle cells (at protein level). Expressed in heart, kidney, skeletal muscle, pancreas, ovary, breast, lung, brain cortex, hypothalamus, spinal cord, dorsal root ganglion. Expressed in umbilical artery endothelial cells, megakaryocytes, osteoblasts, coronary muscle and erythroid cells.

Post-translational modifications. Phosphorylated in the intracellular domain on tyrosine residues. Phosphorylated on tyrosine residues by SRC. Tyrosine phosphorylation is detected upon platelet aggregation stimulated by collagen, TRAP and thrombin and platelet-platelet contacts but not after platelet activation. Tyrosine phosphorylation enhanced its association with SHC1 and SHC2. Phosphorylated when in the presence of SVEP1.

Similarity. Belongs to the MEGF family.

RefSeq proteins (3): NP_001073940, NP_001340611, NP_001340612 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000742	EGF	Domain
IPR002049	LE_dom	Domain
IPR011489	EMI_domain	Domain
IPR052485	MEGF_diff_regulators	Family
IPR057138	EGF_PEAR1L-like	Domain

Pfam: PF00053, PF23301

UniProt features (59 total): disulfide bond 29, domain 10, glycosylation site 5, sequence variant 4, modified residue 3, region of interest 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VY43-F1	67.84	0.02

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 925, 953, 1029

Disulfide bonds (29): 29–91, 55–65, 90–101, 105–114, 109–120, 122–131, 235–248, 250–259, 272–284, 278–291, 293–302, 315–327, 321–334, 336–345, 404–416, 410–423, 425–434, 490–502, 496–509, 511–520 …

Glycosylation sites (5): 152, 271, 476, 575, 634

Mutagenesis-validated functional residues (1):

Position	Phenotype
343	reduces interaction with svep1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_PLATELET_ACTIVATION, GOBP_APOPTOTIC_CELL_CLEARANCE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, GOBP_POSITIVE_REGULATION_OF_CELL_ACTIVATION, GOBP_HOMOTYPIC_CELL_CELL_ADHESION, GOBP_HEMOSTASIS, GOBP_REGULATION_OF_PLATELET_ACTIVATION, GOBP_IMPORT_INTO_CELL, GOBP_ENDOCYTOSIS, GOBP_REGULATION_OF_BODY_FLUID_LEVELS

GO Biological Process (4): positive regulation of platelet activation (GO:0010572), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), recognition of apoptotic cell (GO:0043654), platelet aggregation (GO:0070527)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (5): phagocytic cup (GO:0001891), membrane (GO:0016020), lamellipodium (GO:0030027), plasma membrane (GO:0005886), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
platelet activation	2
regulation of platelet activation	1
positive regulation of cell activation	1
intracellular signaling cassette	1
phagocytosis, recognition	1
apoptotic cell clearance	1
homotypic cell-cell adhesion	1
molecular transducer activity	1
binding	1
plasma membrane	1
cell leading edge	1
plasma membrane bounded cell projection	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

694 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PEAR1	SHC2	P98077	777
PEAR1	GP6	Q9HCN6	659
PEAR1	IRAG1	Q9Y6F6	619
PEAR1	ITGB3	P05106	594
PEAR1	ADRA2A	P08913	544
PEAR1	LRRC71	Q8N4P6	540
PEAR1	TUBB1	Q9H4B7	500
PEAR1	SHC1	P29353	491
PEAR1	JMJD1C	Q15652	489
PEAR1	P2RY12	Q9H244	479
PEAR1	PIK3CG	P48736	465
PEAR1	GPATCH4	Q5T3I0	455
PEAR1	ZMIZ2	Q8NF64	449
PEAR1	SRC	P12931	449
PEAR1	EGF	P01133	448

IntAct

14 interactions, top by confidence:

A	B	Type	Score
PEAR1	NUFIP2	psi-mi:“MI:0915”(physical association)	0.560
PEAR1	KRTAP4-5	psi-mi:“MI:0915”(physical association)	0.560
MXI1	PEAR1	psi-mi:“MI:0915”(physical association)	0.560
YES1	PEAR1	psi-mi:“MI:0407”(direct interaction)	0.440
PEAR1		psi-mi:“MI:0914”(association)	0.350
PEAR1	ACTA2	psi-mi:“MI:0914”(association)	0.350
NUFIP2	PEAR1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP4-5	PEAR1	psi-mi:“MI:0915”(physical association)	0.000
MXI1	PEAR1	psi-mi:“MI:0915”(physical association)	0.000
PEAR1		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): SYK (Affinity Capture-Western), ZAP70 (Affinity Capture-Western), PEAR1 (Two-hybrid), PEAR1 (Two-hybrid), KRTAP4-5 (Two-hybrid), EFR3A (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), PEAR1 (Proximity Label-MS), PEAR1 (Proximity Label-MS), PEAR1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM12, A1A5Y0, A2VCU8, A6BM72, A6QR11, E9QJQ6, O42182, O70534, O88281, P23142, P35555, P35953, P80370, P97607, P98133, P98155, P98156, P98165, P98166, Q08879, Q09163, Q28832, Q2VWQ2, Q5R3Z7, Q5VY43, Q61220, Q61554, Q61555, Q62918, Q62919, Q6DIB5, Q7ZXL5, Q80T14, Q80T91, Q80V70, Q86XX4, Q8C088, Q8R4Y4, Q8VIK5, Q90827

Diamond homologs: A0JM12, A6BM72, A8XMW6, E9QJQ6, Q5ND28, Q5RBP1, Q5VY43, Q6DIB5, Q6UXI9, Q80T91, Q8AVH7, Q8VIK5, Q91V88, Q96KG7, Q9W0A0, Q9XWD6, Q99944, A2AJ76, A2RUV0, A2VCU8, A5A8Y8, A6QR11, A8WGB1, B3EWY9, B5DFC9, G3I6Z6, G3V928, O42182, O73775, O75095, O77469, O88322, P10493, P21783, P23142, P25723, P33587, P34576, P35555, P35556

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

196 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	160
Likely benign	10
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3694 predictions. Top by Δscore:

Variant	Effect	Δscore
1:156905322:AG:A	acceptor_gain	1.0000
1:156905323:GG:G	acceptor_gain	1.0000
1:156905323:GGGTT:G	acceptor_gain	1.0000
1:156905411:GGGGT:G	donor_gain	1.0000
1:156905421:GTCC:G	donor_gain	1.0000
1:156905425:G:GG	donor_gain	1.0000
1:156906635:A:AG	acceptor_gain	1.0000
1:156906636:G:GG	acceptor_gain	1.0000
1:156906636:GA:G	acceptor_gain	1.0000
1:156906636:GAGT:G	acceptor_gain	1.0000
1:156907912:CA:C	acceptor_loss	1.0000
1:156907913:A:AG	acceptor_gain	1.0000
1:156907913:AG:A	acceptor_gain	1.0000
1:156907914:G:GG	acceptor_gain	1.0000
1:156907914:GG:G	acceptor_gain	1.0000
1:156908912:TCAG:T	acceptor_loss	1.0000
1:156908914:A:AG	acceptor_gain	1.0000
1:156908914:AG:A	acceptor_gain	1.0000
1:156908915:G:GG	acceptor_gain	1.0000
1:156908915:GG:G	acceptor_gain	1.0000
1:156908915:GGGCC:G	acceptor_gain	1.0000
1:156908954:C:CA	acceptor_gain	1.0000
1:156909032:GGAAG:G	donor_gain	1.0000
1:156909033:GAAGG:G	donor_gain	1.0000
1:156909034:A:T	donor_gain	1.0000
1:156909037:G:C	donor_loss	1.0000
1:156909038:T:A	donor_loss	1.0000
1:156909788:C:A	acceptor_gain	1.0000
1:156909992:A:AG	acceptor_gain	1.0000
1:156910003:A:AG	acceptor_gain	1.0000

AlphaMissense

6808 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:156908697:G:C	W386C	0.995
1:156908697:G:T	W386C	0.995
1:156908710:T:A	C391S	0.995
1:156908711:G:C	C391S	0.995
1:156909755:G:C	W472C	0.995
1:156909755:G:T	W472C	0.995
1:156908672:G:T	G378V	0.993
1:156908711:G:A	C391Y	0.992
1:156908925:T:A	C434S	0.992
1:156908926:G:C	C434S	0.992
1:156908927:T:G	C434W	0.992
1:156909797:G:C	W486C	0.992
1:156909797:G:T	W486C	0.992
1:156908712:C:G	C391W	0.991
1:156908749:T:A	C404S	0.991
1:156908750:G:C	C404S	0.991
1:156908806:T:A	C423S	0.991
1:156908807:G:C	C423S	0.991
1:156908258:T:A	C345S	0.990
1:156908259:G:C	C345S	0.990
1:156908711:G:T	C391F	0.990
1:156908767:T:A	C410S	0.990
1:156908768:G:C	C410S	0.990
1:156908966:T:G	C447W	0.990
1:156909798:G:T	G487C	0.990
1:156909884:G:C	W515C	0.990
1:156909884:G:T	W515C	0.990
1:156910271:G:C	W572C	0.990
1:156910271:G:T	W572C	0.990
1:156908273:T:A	C350S	0.989

dbSNP variants (sampled 300 via entrez): RS1000162017 (1:156912442 A>G), RS1000220482 (1:156903869 G>A,C), RS1000357122 (1:156900941 C>T), RS1000417403 (1:156896741 G>A), RS1000571263 (1:156903144 A>C), RS1000591071 (1:156908477 G>A,C), RS1000619147 (1:156901169 G>A), RS1000724727 (1:156908198 G>GC), RS1000754122 (1:156914293 G>A,C), RS1000824440 (1:156895884 C>T), RS1000919421 (1:156895381 C>A,G,T), RS1001044995 (1:156916100 T>C), RS1001175765 (1:156892749 G>A,C,T), RS1001292493 (1:156914058 A>C,G), RS1001686239 (1:156895961 G>T)

Disease associations

OMIM: gene MIM:610278 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST000693_3	Platelet aggregation	4.000000e-16
GCST000693_5	Platelet aggregation	5.000000e-19
GCST004599_250	Mean platelet volume	6.000000e-34
GCST004599_251	Mean platelet volume	2.000000e-09
GCST004599_252	Mean platelet volume	1.000000e-20
GCST004616_114	Platelet distribution width	2.000000e-13
GCST005991_76	Platelet count	3.000000e-13
GCST006585_2248	Blood protein levels	7.000000e-09
GCST008171_1	Platelet aggregation	3.000000e-13
GCST008171_2	Platelet aggregation	1.000000e-12
GCST008171_3	Platelet aggregation	3.000000e-12
GCST008171_4	Platelet aggregation	6.000000e-12
GCST008171_5	Platelet aggregation	3.000000e-11
GCST008171_9	Platelet aggregation	6.000000e-09
GCST010697_36	Cortical surface area (min-P)	5.000000e-08
GCST010698_82	Subcortical volume (min-P)	4.000000e-20
GCST010699_62	Brain morphology (min-P)	2.000000e-26
GCST010700_48	Cortical thickness (MOSTest)	2.000000e-10
GCST010701_53	Cortical surface area (MOSTest)	1.000000e-16
GCST010702_160	Subcortical volume (MOSTest)	1.000000e-21
GCST010703_149	Brain morphology (MOSTest)	2.000000e-09
GCST90002395_532	Mean platelet volume	3.000000e-84
GCST90002395_533	Mean platelet volume	2.000000e-14
GCST90002395_534	Mean platelet volume	2.000000e-22
GCST90002395_535	Mean platelet volume	9.000000e-37
GCST90002401_361	Platelet distribution width	6.000000e-22
GCST90002402_497	Platelet count	2.000000e-12
GCST90002402_498	Platelet count	5.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

15 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs12041331	Toxicity	3	aspirin	Myocardial Infarction
rs12041331	Efficacy,Toxicity	3	aspirin;clopidogrel
rs12041331	Efficacy	3	ticagrelor
rs12041331	Efficacy	3	aspirin;clopidogrel;prasugrel
rs12407843	Efficacy	3	prasugrel
rs12566888	Efficacy	3	ticagrelor
rs2768759	Efficacy	3	aspirin;prasugrel
rs3737224	Efficacy	3	prasugrel
rs41273215	Efficacy	3	prasugrel
rs41273215	Efficacy	3	clopidogrel
rs4661012	Efficacy	3	ticagrelor
rs57731889	Efficacy	3	clopidogrel
rs77235035	Efficacy	3	prasugrel
rs822441	Efficacy	3	prasugrel
rs822442	Efficacy	3	prasugrel

PharmGKB variants

14 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs822441	PEAR1	3	1.50	1	prasugrel
rs822442	PEAR1	3	1.50	1	prasugrel
rs2768759	NTRK1, PEAR1	3	1.50	2	aspirin;aspirin;prasugrel
rs3737224	PEAR1	3	1.50	1	prasugrel
rs11264579	PEAR1		0.00	0
rs12041331	PEAR1	3	3.00	4	aspirin;aspirin;clopidogrel;ticagrelor;aspirin;clopidogrel;prasugrel
rs12407843	PEAR1	3	1.50	1	prasugrel
rs12566888	PEAR1	3	2.00	1	ticagrelor
rs41273215	PEAR1	3	2.25	2	prasugrel;clopidogrel
rs77235035	PEAR1	3	1.50	1	prasugrel
rs4661012	PEAR1	3	1.50	1	ticagrelor
rs57731889	PEAR1	3	3.25	1	clopidogrel
rs11264580	PEAR1		0.00	0
rs2644592	PEAR1		0.00	0

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	6
Benzo(a)pyrene	affects methylation, increases expression, increases methylation, increases mutagenesis	4
sodium arsenite	decreases expression, increases expression	3
Air Pollutants	increases abundance, affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cyclosporine	decreases methylation, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
propionaldehyde	increases expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	decreases reaction, affects binding	1
ochratoxin A	increases acetylation	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.