piezo type mechanosensitive ion channel component 2
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Diagnostic Grade (Green)
Arthrogryposis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCongenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalEhlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownarthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Gordon syndrome
distal arthrogryposis
Arthrogryposis with oculomotor limitation and electroretinal anomalies
Marden-Walker syndrome
hereditary disease
arthrogryposis multiplex congenita
fetal akinesia deformation sequence 1
diverticular disease
neurodegenerative disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Piezo-type mechanosensitive ion channel component 2
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 (PubMed:37590348). Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways (PubMed:37590348). Expressed in sensory neurons, is essential for diverse physiological processes, including respiratory control, systemic metabolism, urinary function, and proprioception (By similarity). Mediates airway stretch sensing, enabling efficient respiration at birth and maintaining normal breathing in adults (By similarity). It regulates brown and beige adipose tissue morphology and function, preventing systemic hypermetabolism (By similarity). In the lower urinary tract, acts as a sensor in both the bladder urothelium and innervating sensory neurons being required for bladder-stretch sensing and urethral micturition reflexes, ensuring proper urinary function (PubMed:33057202). Additionally, PIEZO2 serves as the principal mechanotransducer in proprioceptors, facilitating proprioception and coordinated body movements (By similarity). 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 (By similarity). Required for Merkel-cell mechanotransduction (By similarity). Plays a major role in light-touch mechanosensation (By similarity). In kidney, during blood volume challenges, regulates calcium dynamics and maintains renin production, thereby serving as an essential regulator of the renin-angiotensin-aldosterone system (RAAS) and systemic blood volume control (By similarity)
PIEZO2 · Q9H5I5-2isoform
No predicted structure exists for the canonical Q9H5I5 sequence; metrics below describe this isoform.
Mean pLDDT
68.4/ 100
Low
2,689 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
