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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
    mouse all
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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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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