Recombinant Human Piezo-type mechanosensitive ion channel component 2 (PIEZO2), partial

1. The molecular defects identified through clinical exome sequencing in this study expands the phenotypic spectra of CHD7-associated disorders and implicate PIEZO2 as a candidate gene for major eye developmental defects. PMID: 30181649
2. This study identified Piezo2 mechanosensitive cationic channel as a transducer of environmental physical cues into mechanobiological responses. PMID: 29432180
3. The present results demonstrate the occurrence of Piezo2 in cutaneous sensory nerve formations that functionally work as slowly adapting (Merkel cells) and rapidly adapting (Meissner's corpuscles) low-threshold mechanoreceptors and are related to fine and discriminative touch but not to vibration or hard touch PMID: 28905996
4. Study demonstrate the splicing of Piezo2 to be cell type specific. Biophysical characterization revealed substantial differences in ion permeability, sensitivity to calcium modulation, and inactivation kinetics among Piezo2 splice variants. PMID: 29212024
5. we report the developmental phenotypic spectrum of familial Gordon syndrome in one family due to the previously characterized PIEZO2 mutation c.8057G>A. PMID: 27714920
6. Enterochromaffin cells in the human and mouse small bowel GI epithelium selectively express the mechanosensitive ion channel Piezo2, and also that activation of Piezo2 by force leads to inward currents, 5-HT release and an increase in mucosal secretion PMID: 27392819
7. The Piezo2 convert a variety of mechanical stimuli into channel activation and subsequent inactivation, and what molecules and mechanisms modulate Piezo function. PMID: 27743844
8. we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with domina Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene PMID: 27607563
9. Sensory ataxia and proprioception defect with dorsal column involvement together with arthrogryposis, myopathy, scoliosis and progressive respiratory failure may represent a distinct clinical phenotype, and indicate recessive mutations in PIEZO2 PMID: 27974811
10. We identified homozygous loss of function variants in PIEZO2 as the underlying cause for an autosomal-recessive distal muscular atrophy with arthrogryposis, kyphoscoliosis, and neonatal respiratory insufficiency distinct from previously described dominant PIEZO2 diseases. PMID: 27843126
11. Our results show that PIEZO2 is a determinant of mechanosensation in humans. PMID: 27653382
12. Transgenic mouse lines lacking Piezo2 in proprioceptive neurons showed severely uncoordinated body movements. PMID: 26551544
13. Whole-exome sequencing revealed a novel heterozygous mutation c.4456G>C (p.A1486P) of PIEZO2. PMID: 25712306
14. family of mechanically activated channels that counts only two members in human, piezo1 and 2, has emerged recently. [review] PMID: 25037583
15. we demonstrate that the mechanosensitivity of human embryonic stem cell-derived touch receptors depends on PIEZO2 PMID: 25469543
16. this study used exome sequencing to discover that mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. PMID: 24726473
17. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. PMID: 23487782
18. piezo2 sensitization may contribute to PKA- and PKC-mediated mechanical hyperalgesia. PMID: 22921401

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HGNC: 26270

OMIM: 108145

KEGG: hsa:63895

STRING: 9606.ENSP00000463094

UniGene: Hs.436902