PIEZO2
Function
Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain. Piezo channels are homotrimeric three-blade propeller-shaped structure that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways. In inner ear hair cells, PIEZO1/2 subunits may constitute part of the mechanotransducer (MET) non-selective cation channel complex where they may act as pore-forming ion-conducting component in the complex. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation.
Involvement in disease
Arthrogryposis, distal, 5
DA5
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Arthrogryposis, distal, 3
DA3
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate.
None
The disease is caused by variants affecting the gene represented in this entry.
Marden-Walker syndrome
MWKS
A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation.
None
The disease is caused by variants affecting the gene represented in this entry.
Arthrogryposis, distal, with impaired proprioception and touch
DAIPT
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PIEZO (TC 1.A.75) family.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
C18orf30, C18orf58, FAM38B, PIEZO2, Piezo-type mechanosensitive ion channel component 2, Protein FAM38B