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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

Regulatory Elements for PEAR1 Gene

Enhancers for PEAR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H156656 2.6 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.2 -229.4 -229434 15.3 MLX ZFP64 DMAP1 ZNF416 ZNF143 SP3 MCM3 ZC3H11A SSRP1 ZNF610 GON4L KIAA0907 LOC246784 RRNAD1 PRCC MSTO2P LMNA ISG20L2 YY1AP1 TSACC
GH01H156765 1.7 Ensembl ENCODE dbSUPER 10.4 -125.7 -125747 4.5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 RRNAD1 GON4L KIAA0907 LOC246784 ISG20L2 CCT3 MRPL24 LRRC71 ENSG00000229961 ENSG00000233712
GH01H156804 1.3 FANTOM5 Ensembl dbSUPER 11.6 -89.0 -88992 0.6 MAZ ZBTB11 CEBPB MAFG ZNF398 ZNF316 ZBTB48 ZNF341 IKZF1 NFE2 MRPL24 INSRR PEAR1 LRRC71 RRNAD1 ISG20L2 HDGF MIR765 ARHGEF11 C1orf61
GH01H156805 1.2 Ensembl ENCODE dbSUPER 11.6 -87.3 -87324 1 PKNOX1 FEZF1 TSHZ1 NR2F2 OSR2 ZNF23 ZNF692 GLIS1 FOXP2 MLLT1 INSRR PEAR1 LRRC71 ISG20L2 RRNAD1 HDGF MRPL24 MIR765 ARHGEF11 GC01P156814
GH01H156836 1 FANTOM5 ENCODE 11.5 -57.5 -57459 0.2 PKNOX1 RB1 BACH1 EBF1 BATF RELA EED ZNF143 ATF7 ETV6 NTRK1 INSRR PEAR1 LRRC71 SH2D2A TSACC GC01M156858
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEAR1 on UCSC Golden Path with GeneCards custom track

Promoters for PEAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014273 308 801 HDAC2 POLR2A KDM1A EZH2

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 posLast=152152, posLast=271271, posLast=476476, Asn575, and Asn634
  • Modification sites at PhosphoSitePlus

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

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 (2)
  • 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 1196
Prasugrel Approved Pharma ADP receptor inhibitor 0
Ticagrelor Approved Pharma P2Y12 receptor antagonist 326
Clopidogrel Approved Nutra P2Y12 receptor antagonist 798
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

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 Sequence Context AA Info Type
rs1000162017 -- 156,912,442(+) AGACT(A/G)GAGTT intron-variant
rs1000220482 -- 156,903,869(+) CTCCA(C/G)GCTGC intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1000357122 -- 156,900,941(+) ATGGG(C/T)CAGGC intron-variant, upstream-variant-2KB
rs1000417403 -- 156,896,741(+) GCACA(A/G)GATGA intron-variant
rs1000571263 -- 156,903,144(+) TAGGA(A/C)GAGAT intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

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

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)

Relevant External Links 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

Relevant External Links for PEAR1

Genetic Association Database (GAD)
PEAR1
Human Genome Epidemiology (HuGE) Navigator
PEAR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEAR1
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 60
  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 45 60
  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 45 60
  4. A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. (PMID: 19429868) Jones CI … Bloodomics Consortium (Blood 2009) 3 45 60
  5. PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population. (PMID: 28449647) Yang WY … Staessen JA (BMC medical genetics 2017) 3 60

Products for PEAR1 Gene

Sources for PEAR1 Gene

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