Gene: PIEZO1

Alternate names for this Gene: DHS|FAM38A|LMPH3|LMPHM6|Mib

Gene Summary: The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: piezo type mechanosensitive ion channel component 1

Type of Gene: protein-coding

rs57258486 in PIEZO1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs10445033 in PIEZO1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs587776991 in PIEZO1 gene and DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PMID 23479567 2013 Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

PMID 23695678 2013 Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.

PMID 23581886 2014 Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

PMID 23487776 2013 Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

PMID 23973043 2014 Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

PMID 22529292 2012 Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

rs4238686 in PIEZO1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2911463 in PIEZO1 gene and Varicosity PMID 30998689 2019 Varicose veins of lower extremities: Insights from the first large-scale genetic study.

PMID 30566020 2018 Clinical and Genetic Determinants of Varicose Veins.

rs78579285 in PIEZO1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.