PIEZO2

Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene.^[5] It has a homotrimeric structure, with three blades curving into a nano-dome, with a diameter of 28 nanometers.^[6]

PIEZO2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 6KG7
Identifiers
Aliases	PIEZO2, C18orf30, C18orf58, DA3, DA5, FAM38B, FAM38B2, HsT748, HsT771, MWKS, piezo type mechanosensitive ion channel component 2, DAIPT
External IDs	OMIM: 613629; MGI: 1918781; HomoloGene: 49695; GeneCards: PIEZO2; OMA:PIEZO2 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18p11.22-p11.21 Start 10,666,483 bp[1] End 11,149,569 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E1 Start 63,143,284 bp[2] End 63,520,254 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve corpus callosum spinal ganglia visceral pleura inferior ganglion of vagus nerve trigeminal ganglion parietal pleura optic nerve C1 segment Achilles tendon Top expressed in lumbar spinal ganglion prostate lobe of prostate cumulus cell trigeminal ganglion genital tubercle hand aortic valve ascending aorta gastrula More reference expression data BioGPS n/a
Gene ontology Molecular function cation channel activity mechanosensitive ion channel activity Cellular component membrane integral component of membrane plasma membrane Biological process ion transmembrane transport response to mechanical stimulus ion transport response to stimulus cation transport detection of mechanical stimulus involved in sensory perception regulation of membrane potential detection of mechanical stimulus cellular response to mechanical stimulus cation transmembrane transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 63895 667742 Ensembl ENSG00000154864 ENSMUSG00000041482 UniProt Q9H5I5 Q8CD54 RefSeq (mRNA) NM_022068 NM_173817 NM_001378183 NM_001039485 NM_172629 RefSeq (protein) NP_071351 NP_001365112 NP_001034574 Location (UCSC) Chr 18: 10.67 – 11.15 Mb Chr 18: 63.14 – 63.52 Mb PubMed search [3] [4]
Wikidata
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Function

See also: Mechanosensitive channels and Somatosensory system

Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The PIEZO2 protein has a role in rapidly adapting mechanically activated (MA) currents in somatosensory neurons.^[7] Its structure is resolved via a mouse version in 2019, showing the predicted homotrimeric propeller.^[8]

PIEZO2 is typically found in cell types that respond to physical touch, such as Merkel cells,^[9] and is thought to regulate light touch response.^[10]

Pathology

• Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.^[11]
• Mice without PIEZO2 in their proprioceptive neurons show uncoordinated body movements, indicating that PIEZO2 plays a role in mammalian proprioception.^[12]
• PIEZO2 mutations link Gordon syndrome (distal arthrogryposis type 3), Marden-Walker syndrome and Arthrogryposis (Distal Arthrogryposis Type 5).^[13]

See also

• PIEZO1