Gene: PIEZO2

Alternate names for this Gene: C18orf30|C18orf58|DA3|DA5|DAIPT|FAM38B|FAM38B2|HsT748|HsT771|MWKS

Gene Summary: The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known.

Gene is located in Chromosome: 18

Location in Chromosome : 18p11.22-p11.21

Description of this Gene: piezo type mechanosensitive ion channel component 2

Type of Gene: protein-coding

rs587777450 in PIEZO2 gene and ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

rs1568069621 in PIEZO2 gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

PMID 27974811 2017 Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

rs8093481 in PIEZO2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 26169365 2015 Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.

rs11665020 in PIEZO2 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs1555639568 in PIEZO2 gene and Dysmorphic features PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.

PMID 19571066 2009 Arthrogryposis: a review and update.

PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.

PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

rs1568069621 in PIEZO2 gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

PMID 27974811 2017 Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

rs587777451 in PIEZO2 gene and MARDEN-WALKER SYNDROME PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

rs587777450 in PIEZO2 gene and Multiple congenital anomalies PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

PMID 19571066 2009 Arthrogryposis: a review and update.

PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.

PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.

PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

rs11080466 in PIEZO2 gene and Non-Small Cell Lung Carcinoma PMID 21866343 2012 The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations.

rs1555621138 in PIEZO2 gene and Oculomelic amyoplasia PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

rs12455924 in PIEZO2 gene and Triglycerides measurement PMID 23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.