Suvarna Garge (Editor)

PIEZO2

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Species
  
Human

Entrez
  
63895

Human
  
Mouse

Ensembl
  
ENSG00000154864


Aliases
  
PIEZO2, C18orf30, C18orf58, DA3, DA5, FAM38B, FAM38B2, HsT748, HsT771, MWKS, piezo type mechanosensitive ion channel component 2

External IDs
  
MGI: 1918781 HomoloGene: 49695 GeneCards: PIEZO2

Gene music using protein sequence of piezo2 piezo type mechanosensitive ion channel component 2


Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene.

Contents

A critical role for piezo2 channels in the mechanotransduction of mouse proprioceptive neurons


Function

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.

Pathology


  • Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
  • Recent studies show that the congenital atrophy in PIEZO2 leads to not having self perception of extremities, and so the distortion in the response to touch (where the response was linked to an emotional response rather than a physical one). It was performed with two pacients who would not be able to attempt to coordinate their movements without visually doing it, nor could they know where their extremities were at.
  • PIEZO2 mutations link Gordon syndrome (distal arthrogryposis type 3), Marden-Walker syndrome and Arthrogryposis (Distal Arthrogryposis Type 5).

    • PIEZO2 Piezo2 is the principal mechanotransduction channel for

    PIEZO2 PIEZO2 Antibody NBP178624 Novus Biologicals

    References

    PIEZO2 Wikipedia
    (Text) CC BY-SA


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