PIEZO2: Mechanosensitive Ion Channel Gene
Key player in touch sensation, proprioception, and genetic disorders
Gene Information Card
| Symbol | PIEZO2 |
|---|---|
| Full Name | piezo-type mechanosensitive ion channel component 2 |
| Gene Type | protein coding |
| Chromosomal Location | 18p11.22-p11.21 |
| NCBI Gene ID | 63895 ncbi.nlm.nih.gov/gene/63895 |
| Ensembl ID | ENSG00000154864 |
| UniProt ID | Q9H5I5 |
| OMIM ID | 613629 |
| HGNC ID | 26270 |
| Aliases | C18orf30, FAM38B, HsT583, MGC16004 |
Description
PIEZO2 encodes a large transmembrane protein that functions as a mechanically activated cation channel. It is essential for sensing touch, proprioception, and bladder filling. Mutations in PIEZO2 cause various genetic disorders, including distal arthrogryposis and Gordon syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal Arthrogryposis Type 3 | Gain-of-function mutations increase channel activity, leading to altered muscle stretch response | ClinVar, OMIM |
| Distal Arthrogryposis Type 5 | Gain-of-function mutations affect proprioception and joint contractures | ClinVar, OMIM |
| Gordon Syndrome | Gain-of-function mutations cause contractures and cleft palate | ClinVar, OMIM |
| Marden-Walker Syndrome | Loss-of-function mutations impair mechanosensation, leading to developmental defects | ClinVar, OMIM |
| PIEZO2-related Arthrogryposis | Various mutations disrupt channel function, causing multiple joint contractures | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | High | Strong expression in sensory neurons and Merkel cells |
| Lung | Medium | Expression in bronchial epithelial cells |
| Bladder | High | Urothelial cells |
| Colon | Medium | Enteric neurons |
| Kidney | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal model |
| A549 (lung carcinoma) | Medium | Epithelial cells |
| HEK293 (embryonic kidney) | Low | Commonly used for heterologous expression |
| MCF7 (breast cancer) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg2686His | Missense | Rare | Gain-of-function, associated with distal arthrogryposis |
| p.Arg2756His | Missense | Rare | Gain-of-function, associated with Gordon syndrome |
| p.Leu1342Pro | Missense | Rare | Loss-of-function, associated with Marden-Walker syndrome |
| p.Glu2727del | Deletion | Rare | Gain-of-function, altered channel kinetics |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce or abolish channel activity, leading to impaired mechanosensation and developmental defects.
Gain of Function (GOF)
Gain-of-function mutations increase channel activity or alter gating, causing hyperexcitability and contractures.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for PIEZO2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • mechanosensitive ion channel activity | • ion transport |
| • response to mechanical stimulus | • detection of mechanical stimulus involved in sensory perception |
| • plasma membrane |
Pathways
• Mechanotransduction
• Sensory perception of touch
• Proprioception
Protein Summary
PIEZO2 is a large (~2800 amino acids) transmembrane protein that forms a trimeric channel. It is activated by mechanical forces, allowing influx of cations (Na+, Ca2+). It plays a critical role in touch sensation, proprioception, and bladder filling. Mutations can lead to a spectrum of musculoskeletal and sensory disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIEZO2 Knockout HEK293 Cell Line | EDJ-KQ2491 | Human | 63895 | Details Get a Quote |
| PIEZO2 Knockout HeLa Cell Line | EDJ-KQ24459 | Human | 63895 | Details Get a Quote |
| Piezo2 Knockout H9c2(2-1) Cell Line | EDJ-KZ396 | Rat | 63895 | Details Get a Quote |
| PIEZO2 Knockout A-549 Cell Line | EDJ-KQ65496 | Human | 63895 | Details Get a Quote |
| PIEZO2 Knockout HCT 116 Cell Line | EDJ-KQ73933 | Human | 63895 | Details Get a Quote |
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