Gene: PLCB1

Alternate names for this Gene: DEE12|EIEE12|PI-PLC|PLC-154|PLC-I|PLC-beta-1|PLC154|PLCB1A|PLCB1B

Gene Summary: The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.3

Description of this Gene: phospholipase C beta 1

Type of Gene: protein-coding

rs139465532 in PLCB1 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs6039251 in PLCB1 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs984283 in PLCB1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555790846 in PLCB1 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs6077414 in PLCB1 gene and Estradiol level result PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs6077414 in PLCB1 gene and Estradiol measurement PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs1509117 in PLCB1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs7271421 in PLCB1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs6055685 in PLCB1 gene and Major Depressive Disorder PMID 26079190 2015 A genome-wide association study of suicidal behavior.

rs1015092 in PLCB1 gene and Primary biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

rs2743173 in PLCB1 gene and Sleep Apnea, Obstructive PMID 26977737 2016 Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans.

rs115205687 in PLCB1 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs115205687 in PLCB1 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs8121126 in PLCB1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs708915 in PLCB1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.