PIEZO2

The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

Description

Piezo type mechanosensitive ion channel component 2

Tissue specificity

Tissue enriched (brain)

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

18 (10666483 - 11149569)

Ensembl ID

ENSG00000154864  (ver. 103.38)

Orthologs

Mouse Piezo2: ENSMUSG00000041482

UniProt

Q9H5I5

neXtProt

NX_Q9H5I5

Human splice variants
Mouse splice variants

Protein structure