Gene "P2RY2"
Found 4 records
Gene information
Gene symbol:
P2RY2
See related:
Ensembl: ENSG00000175591, Gene ID: 5029
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
4 
Disorder:
2 
Vriant:
4 
Reference:
2 
Effect type:
Expressivity(3) ,Penetrance(1)  
Modifier effect:
Altered Ca2+-influx(3) ,Altered incidence(1)  
Details：
  • Variant 1:
    P2RY2:rs755037985
    Gene:
    P2RY2
    Genomic location:
    dbSNP ID:
    rs755037985
    Target disease:
    Sepsis(HP:0100806)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Identified by leave-one-out cross-validation (LOOCV)experiments 
    Effect:
    the putative protein damaging alleles may be protective in case of sepsis
    Reference:
    PMID27639823
    Title:
    Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive
    Species studied:
    Human
    Abstract:
    Sepsis is a life-threatening organ dysfunction caused by dysregulated host response to infection. For its clinical course, host genetic factors are important and rare genomic variants are suspected to contribute. We sequenced the exomes of 59 Greek and 15 German patients with bacterial sepsis divided into two groups with extremely different disease courses. Variant analysis was focusing on rare deleterious single nucleotide variants (SNVs). We identified significant differences in the number of rare deleterious SNVs per patient between the ethnic groups. Classification experiments based on the data of the Greek patients allowed discrimination between the disease courses with estimated sensitivity and specificity>75%. By application of the trained model to the German patients we observed comparable discriminatory properties despite lower population-specific rare SNV load. Furthermore, rare SNVs in genes of cell signaling and innate immunity related pathways were identified as classifiers discriminating between the sepsis courses. Sepsis patients with favorable disease course after sepsis, even in the case of unfavorable preconditions, seem to be affected more often by rare deleterious SNVs in cell signaling and innate immunity related pathways, suggesting a protective role of impairments in these processes against a poor disease course.
  • Variant 2:
    P2RY2:c.936G>C(p.Arg312Ser)
    Gene:
    P2RY2
    Genomic location:
    chr11:72946140
    dbSNP ID:
    rs3741156
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered Ca2+-influx 
    Evidence:
    Gene activity study 
    Effect:
    Such genetic variants might influence intracellular Ca2+-release therefore represent modifiers of Cl- secretion or of response to P2Y2 agonist therapy in CF.
    Reference:
    PMID16495779
    Title:
    P2Y2 receptor polymorphisms and haplotypes in cystic fibrosis and their impact on Ca2+ influx.
    Species studied:
    Human
    Abstract:
    Activation of P2Y2 receptors in airway epithelia by ATP and UTP stimulates a Ca2+-regulated Cl- channel, which regulates Cl- secretion in cystic fibrosis (CF). We hypothesized that genetic alterations in the P2Y2 receptor may act as disease modifiers in CF and thus analyzed the coding region of this gene for polymorphisms in 146 CF patients and 64 healthy controls. We also assessed the impact of the genetic variants on Ca2+-influx of P2Y2-null cells transfected with several P2Y2 receptor haplotypes.
  • Variant 3:
    P2RY2:c.137C>T(p.Pro46Leu)
    Gene:
    P2RY2
    Genomic location:
    chr11:72945341
    dbSNP ID:
    rs2511241
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered Ca2+-influx 
    Evidence:
    Gene activity study 
    Effect:
    Such genetic variants might influence intracellular Ca2+-release therefore represent modifiers of Cl- secretion or of response to P2Y2 agonist therapy in CF.
    Reference:
    PMID16495779
    Title:
    P2Y2 receptor polymorphisms and haplotypes in cystic fibrosis and their impact on Ca2+ influx.
    Species studied:
    Human
    Abstract:
    Activation of P2Y2 receptors in airway epithelia by ATP and UTP stimulates a Ca2+-regulated Cl- channel, which regulates Cl- secretion in cystic fibrosis (CF). We hypothesized that genetic alterations in the P2Y2 receptor may act as disease modifiers in CF and thus analyzed the coding region of this gene for polymorphisms in 146 CF patients and 64 healthy controls. We also assessed the impact of the genetic variants on Ca2+-influx of P2Y2-null cells transfected with several P2Y2 receptor haplotypes.
  • Variant 4:
    P2RY2:c.1000C>G(p.Arg334Gly)
    Gene:
    P2RY2
    Genomic location:
    chr11:72946204
    dbSNP ID:
    rs1626154
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered Ca2+-influx 
    Evidence:
    Gene activity study 
    Effect:
    Such genetic variants might influence intracellular Ca2+-release therefore represent modifiers of Cl- secretion or of response to P2Y2 agonist therapy in CF.
    Reference:
    PMID16495779
    Title:
    P2Y2 receptor polymorphisms and haplotypes in cystic fibrosis and their impact on Ca2+ influx.
    Species studied:
    Human
    Abstract:
    Activation of P2Y2 receptors in airway epithelia by ATP and UTP stimulates a Ca2+-regulated Cl- channel, which regulates Cl- secretion in cystic fibrosis (CF). We hypothesized that genetic alterations in the P2Y2 receptor may act as disease modifiers in CF and thus analyzed the coding region of this gene for polymorphisms in 146 CF patients and 64 healthy controls. We also assessed the impact of the genetic variants on Ca2+-influx of P2Y2-null cells transfected with several P2Y2 receptor haplotypes.