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Aliases for PEAR1 Gene

Aliases for PEAR1 Gene

  • Platelet Endothelial Aggregation Receptor 1 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 12 3 4
  • Multiple EGF-Like Domains Protein 12 3 4
  • Multiple EGF-Like-Domains 12 2 3
  • MEGF12 3 4
  • HPEAR1 4
  • JEDI 3

External Ids for PEAR1 Gene

Previous HGNC Symbols for PEAR1 Gene

  • MEGF12

Previous GeneCards Identifiers for PEAR1 Gene

  • GC01P153666
  • GC01P155130
  • GC01P128221

Summaries for PEAR1 Gene

Entrez Gene Summary for PEAR1 Gene

  • 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]

GeneCards Summary for PEAR1 Gene

PEAR1 (Platelet Endothelial Aggregation Receptor 1) is a Protein Coding gene. Diseases associated with PEAR1 include Sticky Platelet Syndrome. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. An important paralog of this gene is MEGF10.

UniProtKB/Swiss-Prot for PEAR1 Gene

  • When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells.

Additional gene information for PEAR1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEAR1 Gene

Genomics for PEAR1 Gene

GeneHancer (GH) Regulatory Elements for PEAR1 Gene

Promoters and enhancers for PEAR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I156891 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.5 +4.5 4470 12.4 HDGF ARID4B SIN3A ZNF2 ZNF766 ZNF143 FOS SP3 SP5 REST PEAR1 RRNAD1 KHDC4 ARHGEF11 LRRC71 GC01P156919
GH01I156765 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.4 -125.7 -125746 4.5 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 MEF2D NBN HDGF PRCC RRNAD1 GON4L KHDC4 LOC246784 ISG20L2 CCT3 MRPL24 LRRC71
GH01I156656 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.2 -229.4 -229433 15.3 CLOCK MLX ZFP64 DMAP1 IRF4 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 GON4L KHDC4 RRNAD1 LOC246784 PRCC MSTO2P LMNA ISG20L2 YY1AP1 CCT3
GH01I156804 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 11.6 -89.0 -88991 0.6 ZNF316 ZBTB48 VEZF1 NFE2 MAFK IKZF2 CHD2 MAZ ZBTB11 CEBPB MRPL24 INSRR PEAR1 LRRC71 ISG20L2 RRNAD1 HDGF MIR765 ARHGEF11 C1orf61
GH01I156805 Enhancer 1 Ensembl ENCODE dbSUPER 11.6 -87.3 -87324 1 MEIS2 PKNOX1 FEZF1 TSHZ1 NR2F2 OSR2 ZNF23 ZNF692 GLIS1 FOXP2 INSRR PEAR1 LRRC71 RRNAD1 ISG20L2 HDGF MRPL24 MIR765 ARHGEF11 GC01P156814
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PEAR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEAR1 gene promoter:

Genomic Locations for PEAR1 Gene

Genomic Locations for PEAR1 Gene
chr1:156,893,692-156,916,434
(GRCh38/hg38)
Size:
22,743 bases
Orientation:
Plus strand
chr1:156,863,490-156,886,226
(GRCh37/hg19)

Genomic View for PEAR1 Gene

Genes around PEAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEAR1 Gene

Proteins for PEAR1 Gene

  • Protein details for PEAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VY43-PEAR1_HUMAN
    Recommended name:
    Platelet endothelial aggregation receptor 1
    Protein Accession:
    Q5VY43
    Secondary Accessions:
    • Q8TEK2

    Protein attributes for PEAR1 Gene

    Size:
    1037 amino acids
    Molecular mass:
    110666 Da
    Quaternary structure:
    • Interacts with SHC2 upon its aggregation-induced tyrosine phosphorylation.
    SequenceCaution:
    • Sequence=BAB84947.1; Type=Frameshift; Positions=557; Evidence={ECO:0000305};

neXtProt entry for PEAR1 Gene

Post-translational modifications for PEAR1 Gene

  • Phosphorylated in the intracellular domain on tyrosine residues (By similarity). 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.
  • Glycosylation at isoforms=152, Asn271, isoforms=476, Asn575, and isoforms=634

No data available for DME Specific Peptides for PEAR1 Gene

Domains & Families for PEAR1 Gene

Gene Families for PEAR1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PEAR1 Gene

Suggested Antigen Peptide Sequences for PEAR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VY43

UniProtKB/Swiss-Prot:

PEAR1_HUMAN :
  • Belongs to the MEGF family.
Family:
  • Belongs to the MEGF family.
genes like me logo Genes that share domains with PEAR1: view

Function for PEAR1 Gene

Molecular function for PEAR1 Gene

UniProtKB/Swiss-Prot Function:
When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells.

Phenotypes From GWAS Catalog for PEAR1 Gene

genes like me logo Genes that share phenotypes with PEAR1: view

Animal Models for PEAR1 Gene

MGI Knock Outs for PEAR1:

Animal Model Products

Clone Products

  • Addgene plasmids for PEAR1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEAR1 Gene

Localization for PEAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEAR1 Gene

Cell membrane; Single-pass membrane protein. Note=Detected on the cell surface in resting platelets. {ECO:0000269 PubMed:15851471}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEAR1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEAR1: view

Pathways & Interactions for PEAR1 Gene

genes like me logo Genes that share pathways with PEAR1: view

Pathways by source for PEAR1 Gene

Gene Ontology (GO) - Biological Process for PEAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043654 recognition of apoptotic cell IEA --
GO:0045746 negative regulation of Notch signaling pathway IBA --
genes like me logo Genes that share ontologies with PEAR1: view

No data available for SIGNOR curated interactions for PEAR1 Gene

Drugs & Compounds for PEAR1 Gene

(4) Drugs for PEAR1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1232
Clopidogrel Approved Pharma P2Y12 receptor antagonist 814
Prasugrel Approved Pharma ADP receptor inhibitor 0
Ticagrelor Approved Pharma P2Y12 receptor antagonist 339
genes like me logo Genes that share compounds with PEAR1: view

Transcripts for PEAR1 Gene

Unigene Clusters for PEAR1 Gene

Platelet endothelial aggregation receptor 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for PEAR1

Alternative Splicing Database (ASD) splice patterns (SP) for PEAR1 Gene

No ASD Table

Relevant External Links for PEAR1 Gene

GeneLoc Exon Structure for
PEAR1
ECgene alternative splicing isoforms for
PEAR1

Expression for PEAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEAR1 Gene

Protein differential expression in normal tissues from HIPED for PEAR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.8), Serum (23.5), and Platelet (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PEAR1 Gene



Protein tissue co-expression partners for PEAR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PEAR1 Gene:

PEAR1

SOURCE GeneReport for Unigene cluster for PEAR1 Gene:

Hs.142003

mRNA Expression by UniProt/SwissProt for PEAR1 Gene:

Q5VY43-PEAR1_HUMAN
Tissue specificity: Expressed in umbilical vein endothelial cells and platelets (at protein level). Expressed in heart, kidney, skeletal muscle, pancreas, ovary, breast, lung, brain cortex, hypothalamus, spinal cord, dorsal root ganglion, endothelial cells of umbilical cord artery and vein, megakaryocytes, osteoblasts, coronary muscle and erythroid cells. Weakly expressed in peripheral blood leukocytes and macrophages.

Evidence on tissue expression from TISSUES for PEAR1 Gene

  • Blood(4.4)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with PEAR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PEAR1 Gene

Orthologs for PEAR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PEAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEAR1 33 34
  • 98.56 (n)
cow
(Bos Taurus)
Mammalia PEAR1 33 34
  • 87.98 (n)
dog
(Canis familiaris)
Mammalia PEAR1 33 34
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Pear1 33 16 34
  • 83.28 (n)
rat
(Rattus norvegicus)
Mammalia Pear1 33
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia PEAR1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 37 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PEAR1 33 34
  • 65.47 (n)
lizard
(Anolis carolinensis)
Reptilia PEAR1 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pear1 33
  • 60.26 (n)
zebrafish
(Danio rerio)
Actinopterygii pear1 33 34
  • 57.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta drpr 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ced-1 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for PEAR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEAR1 Gene

ENSEMBL:
Gene Tree for PEAR1 (if available)
TreeFam:
Gene Tree for PEAR1 (if available)

Paralogs for PEAR1 Gene

Paralogs for PEAR1 Gene

(3) SIMAP similar genes for PEAR1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PEAR1: view

Variants for PEAR1 Gene

Sequence variations from dbSNP and Humsavar for PEAR1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000162017 -- 156,912,442(+) A/G intron_variant
rs1000220482 -- 156,903,869(+) G/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs1000357122 -- 156,900,941(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000417403 -- 156,896,741(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000571263 -- 156,903,144(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PEAR1 Gene

Variant ID Type Subtype PubMed ID
esv3890682 CNV loss 25118596
nsv1006558 CNV gain 25217958
nsv831648 CNV loss 17160897
nsv831659 CNV loss 17160897
nsv998265 CNV gain 25217958

Variation tolerance for PEAR1 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.69; 93.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEAR1 Gene

Human Gene Mutation Database (HGMD)
PEAR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEAR1 Gene

Disorders for PEAR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PEAR1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
sticky platelet syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PEAR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PEAR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PEAR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEAR1 Gene

Publications for PEAR1 Gene

  1. Platelet endothelial aggregation receptor 1 (PEAR1), a novel epidermal growth factor repeat-containing transmembrane receptor, participates in platelet contact-induced activation. (PMID: 15851471) Nanda N … Hart MJ (The Journal of biological chemistry 2005) 2 3 4 22 58
  2. A novel variant in the platelet endothelial aggregation receptor-1 gene is associated with increased platelet aggregability. (PMID: 18511696) Herrera-Galeano JE … Becker LC (Arteriosclerosis, thrombosis, and vascular biology 2008) 3 22 44 58
  3. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. (PMID: 20526338) Johnson AD … Becker LC (Nature genetics 2010) 3 44 58
  4. A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. (PMID: 19429868) Jones CI … Bloodomics Consortium (Blood 2009) 3 44 58
  5. Association of PEAR1 rs12041331 polymorphism and pharmacodynamics of ticagrelor in healthy Chinese volunteers. (PMID: 27937053) Li M … Chen X (Xenobiotica; the fate of foreign compounds in biological systems 2017) 3 58

Products for PEAR1 Gene

Sources for PEAR1 Gene

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