Gene: PLCE1

Alternate names for this Gene: NPHS3|PLCE|PPLC

Gene Summary: This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.33

Description of this Gene: phospholipase C epsilon 1

Type of Gene: protein-coding

rs10509669 in PLCE1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs932764 in PLCE1 gene and Blood Pressure PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

rs11289753 in PLCE1 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs10786156 in PLCE1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117607728 in PLCE1 gene and Chronic Obstructive Airway Disease PMID 21685187 2011 Genome-wide association study of smoking behaviours in patients with COPD.

rs2274223 in PLCE1 gene and Dengue Shock Syndrome PMID 22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

rs932764 in PLCE1 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs932764 in PLCE1 gene and Diastolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs11187842 in PLCE1 gene and Esophageal Neoplasms PMID 22323360 2012 Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies.

PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

PMID 20729853 2010 Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.

PMID 20729852 2010 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.

rs3891783 in PLCE1 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs61886277 in PLCE1 gene and Hepatitis B, Chronic PMID 30715261 2019 Genome-wide Association Study Identifies Genetic Variants Associated With Early and Sustained Response to (Pegylated) Interferon in Chronic Hepatitis B Patients: The GIANT-B Study.

rs932764 in PLCE1 gene and Hypertensive disease PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs11187844 in PLCE1 gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

rs10786156 in PLCE1 gene and Migraine Disorders PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

rs121912605 in PLCE1 gene and NEPHROTIC SYNDROME, TYPE 3 PMID 17086182 2006 Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

rs9419788 in PLCE1 gene and Personality Traits PMID 21368711 2011 Genome-wide association study of personality traits in bipolar patients.

rs10786152 in PLCE1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs3765524 in PLCE1 gene and Severe Dengue PMID 22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

rs2274223 in PLCE1 gene and Squamous cell carcinoma of esophagus PMID 25129146 2014 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.

rs10509671 in PLCE1 gene and Stomach Carcinoma PMID 31383772 2020 Meta-analysis of genome-wide association studies and functional assays decipher susceptibility genes for gastric cancer in Chinese populations.

PMID 20729852 2010 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.

rs11187837 in PLCE1 gene and Sudden Cardiac Arrest PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs11187837 in PLCE1 gene and Sudden Cardiac Death PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs10882397 in PLCE1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

rs932764 in PLCE1 gene and Systolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 19430483 2009 Genome-wide association study identifies eight loci associated with blood pressure.

rs1223585 in PLCE1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2689700 in PLCE1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs7072574 in PLCE1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.