Gene Symbol | PIEZO2 |
Entrez Gene ID | 63895 |
Full Name | piezo type mechanosensitive ion channel component 2 |
Synonyms | C18orf30,C18orf58,DA3,DA5,DAIPT,FAM38B,FAM38B2,HsT748,HsT771,MWKS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Arthrogryposis, distal, type 5, 108145 (3); Arthrogryposis, distal, type 3, 114300 (3); ?Marden-Walker syndrome, 248700 (3); Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) |