Gene 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 structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways. 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. 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) Source: UniProt

Relationship to CMT

Candidate —
18p11.22-p11.21

First described 2021
Candidate gene

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypePIEZO2	Inheritance—	ClassCandidate	OMIMn/a	Sentinel Publicationnot recorded

Stored Identifiers

No HGNC Aliases

hgnc_idHGNC:26270

ensembl_gene_idENSG00000154864

coords_grch38chr18:10666483-11149591

coords_grch37chr18:10666480-11148587

entrez_id63895

omim_gene613629

uniprot_idsQ9H5I5

refseq_accessionNM_022068

mane_refseqNM_001378183.1

mane_ensemblENST00000674853.1

External recordsHGNC:26270OMIM 613629gnomADUniProt Q9H5I5ClinVar P/LPOrphanetMANE NM_001378183.1

EvidencePanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in PIEZO2, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

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