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PEAR1 platelet endothelial aggregation receptor 1 [ Homo sapiens (human) ]

Gene ID: 375033, updated on 2-Nov-2024

Summary

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Official Symbol
PEAR1provided by HGNC
Official Full Name
platelet endothelial aggregation receptor 1provided by HGNC
Primary source
HGNC:HGNC:33631
See related
Ensembl:ENSG00000187800 MIM:610278; AllianceGenome:HGNC:33631
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JEDI; MEGF12
Summary
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]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in fat (RPKM 9.8), placenta (RPKM 6.3) and 24 other tissues See more
Orthologs
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Genomic context

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See PEAR1 in Genome Data Viewer
Location:
1q23.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156893718..156916429)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (156030548..156053275)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156863510..156886221)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156778787-156779288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156783176-156783722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1438 Neighboring gene SH2 domain containing 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1884 Neighboring gene neurotrophic receptor tyrosine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156808560-156809060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811133-156811814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811815-156812494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156814249-156814884 Neighboring gene Sharpr-MPRA regulatory region 5756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156830955-156831498 Neighboring gene insulin receptor related receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156836581-156837238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156844837-156845734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156862813-156863317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:156865761-156866960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1441 Neighboring gene leucine rich repeat containing 71 Neighboring gene Rho guanine nucleotide exchange factor 11 Neighboring gene microRNA 765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:156951350-156951542 Neighboring gene RNA, 7SL, cytoplasmic 612, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PEAR1 is not a human hypertension-susceptibility gene. Olivi L, et al. Blood Press, 2015 Feb. PMID 25541647
  2. Cell-Specific PEAR1 Methylation Studies Reveal a Locus that Coordinates Expression of Multiple Genes. Izzi B, et al. Int J Mol Sci, 2018 Apr 3. PMID 29614055, Free PMC Article
  3. Genetic mutations in PEAR1 associated with cardiovascular outcomes in Chinese patients with acute coronary syndrome. Nie XY, et al. Thromb Res, 2018 Mar. PMID 29407631
  4. Effect of PEAR1 Genetic Variants on 1-Year Outcomes in Chinese Patients with Acute Myocardial Infarction After Percutaneous Coronary Intervention. Yao Y, et al. J Atheroscler Thromb, 2018 May 1. PMID 29212986, Free PMC Article
  5. PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population. Yang WY, et al. BMC Med Genet, 2017 Apr 27. PMID 28449647, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated with Serum sIgE and Blood Eosinophil Levels in Chinese Patients with Allergic Diseases.
    Title: Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated with Serum sIgE and Blood Eosinophil Levels in Chinese Patients with Allergic Diseases.
  2. 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.
    Title: 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.
  3. PEAR1 is a potential regulator of early hematopoiesis of human pluripotent stem cells.
    Title: PEAR1 is a potential regulator of early hematopoiesis of human pluripotent stem cells.
  4. Genetic variants of PEAR1 and ischemic clinical outcomes in coronary artery disease patients: a systematic review and meta-analysis.
    Title: Genetic variants of PEAR1 and ischemic clinical outcomes in coronary artery disease patients: a systematic review and meta-analysis.
  5. PEAR1 polymorphisms as a prognostic factor in hemostasis and cardiovascular diseases.
    Title: PEAR1 polymorphisms as a prognostic factor in hemostasis and cardiovascular diseases.
  6. Genetic Variation in PEAR1, Cardiovascular Outcomes and Effects of Aspirin in a Healthy Elderly Population.
    Title: Genetic Variation in PEAR1, Cardiovascular Outcomes and Effects of Aspirin in a Healthy Elderly Population.
  7. Lower Platelet Aggregation Is a Risk Factor for Dual Antiplatelet Therapy-Associated Bleeding: A Preliminary Retrospective Study with Genotype Analysis.
    Title: Lower Platelet Aggregation Is a Risk Factor for Dual Antiplatelet Therapy-Associated Bleeding: A Preliminary Retrospective Study with Genotype Analysis.
  8. PEAR1 acts as a negative regulator in the proliferation of pulmonary microvascular endothelial cells in acute lung injury model via the PI3K/AKT pathway.
    Title: PEAR1 suppresses the proliferation of pulmonary microvascular endothelial cells via PI3K/AKT pathway in ALI model.
  9. 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.
    Title: Variation of PEAR1 DNA methylation influences platelet and leukocyte function.
  10. 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.
    Title: Impact of Platelet Endothelial Aggregation Receptor-1 Genotypes on Platelet Reactivity and Early Cardiovascular Outcomes in Patients Undergoing Percutaneous Coronary Intervention and Treated With Aspirin and Clopidogrel.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00193

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in platelet aggregation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of platelet activation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in recognition of apoptotic cell IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in lamellipodium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in phagocytic cup IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
platelet endothelial aggregation receptor 1
Names
multiple EGF-like domains protein 12
multiple EGF-like-domains 12
multiple epidermal growth factor-like domains protein 12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080471.3 → NP_001073940.1  platelet endothelial aggregation receptor 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001073940.1

    Status: VALIDATED

    Source sequence(s)
    AL158169, AL356104
    Consensus CDS
    CCDS30892.1
    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Related
    ENSP00000292357.7, ENST00000292357.8
    Conserved Domains (1) summary
    pfam07546
    Location:27 → 95
    EMI; EMI domain

  2. NM_001353682.2 → NP_001340611.1  platelet endothelial aggregation receptor 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL158169, AL356104
    Conserved Domains (1) summary
    pfam07546
    Location:6 → 31
    EMI; EMI domain

  3. NM_001353683.2 → NP_001340612.1  platelet endothelial aggregation receptor 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL158169, AL356104
    Conserved Domains (1) summary
    pfam07546
    Location:6 → 31
    EMI; EMI domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    156893718..156916429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419737.1 → XP_047275693.1  platelet endothelial aggregation receptor 1 isoform X5

  2. XM_005245141.4 → XP_005245198.1  platelet endothelial aggregation receptor 1 isoform X3

    See identical proteins and their annotated locations for XP_005245198.1

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Conserved Domains (1) summary
    pfam07546
    Location:27 → 95
    EMI; EMI domain

  3. XM_011509511.3 → XP_011507813.1  platelet endothelial aggregation receptor 1 isoform X4

    Conserved Domains (1) summary
    pfam07546
    Location:34 → 60
    EMI; EMI domain

  4. XM_047419722.1 → XP_047275678.1  platelet endothelial aggregation receptor 1 isoform X3

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2

  5. XM_011509510.3 → XP_011507812.1  platelet endothelial aggregation receptor 1 isoform X3

    See identical proteins and their annotated locations for XP_011507812.1

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Related
    ENSP00000344465.3, ENST00000338302.7
    Conserved Domains (1) summary
    pfam07546
    Location:27 → 95
    EMI; EMI domain

  6. XM_017001236.2 → XP_016856725.1  platelet endothelial aggregation receptor 1 isoform X3

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Conserved Domains (1) summary
    pfam07546
    Location:27 → 95
    EMI; EMI domain

  7. XM_017001239.2 → XP_016856728.1  platelet endothelial aggregation receptor 1 isoform X5

    Conserved Domains (1) summary
    pfam07546
    Location:6 → 31
    EMI; EMI domain

  8. XM_017001242.2 → XP_016856731.1  platelet endothelial aggregation receptor 1 isoform X6

  9. XM_017001235.3 → XP_016856724.1  platelet endothelial aggregation receptor 1 isoform X2

  10. XM_017001234.3 → XP_016856723.1  platelet endothelial aggregation receptor 1 isoform X1

  11. XM_017001241.1 → XP_016856730.1  platelet endothelial aggregation receptor 1 isoform X6

  12. XM_017001240.1 → XP_016856729.1  platelet endothelial aggregation receptor 1 isoform X6

    Related
    ENST00000469390.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    156030548..156053275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336448.1 → XP_054192423.1  platelet endothelial aggregation receptor 1 isoform X3

  2. XM_054336453.1 → XP_054192428.1  platelet endothelial aggregation receptor 1 isoform X7

  3. XM_054336452.1 → XP_054192427.1  platelet endothelial aggregation receptor 1 isoform X4

  4. XM_054336450.1 → XP_054192425.1  platelet endothelial aggregation receptor 1 isoform X3

  5. XM_054336449.1 → XP_054192424.1  platelet endothelial aggregation receptor 1 isoform X3

  6. XM_054336451.1 → XP_054192426.1  platelet endothelial aggregation receptor 1 isoform X3

  7. XM_054336456.1 → XP_054192431.1  platelet endothelial aggregation receptor 1 isoform X6

  8. XM_054336455.1 → XP_054192430.1  platelet endothelial aggregation receptor 1 isoform X6

  9. XM_054336454.1 → XP_054192429.1  platelet endothelial aggregation receptor 1 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207369.1: Suppressed sequence

    Description
    NM_207369.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VY43.1 GenPept UniProtKB/Swiss-Prot:Q5VY43

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