| piezo type mechanosensitive ion channel component 2 | OKDB#: 5003 |
| Symbols: | PIEZO2 | Species: | human | ||
| Synonyms: | DA3, DA5, MWKS, DAIPT, FAM38B, HsT748, HsT771, FAM38B2, C18orf30, C18orf58 | Locus: | 18p11.22-p11.21 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | Channel/transport protein | ||||
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| Cellular localization | Plasma membrane | ||||
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| Mutations |
1 mutations
Species: mouse
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| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | April 3, 2014, 11:13 a.m. | by: |
hsueh email:
home page: |
| last update: | May 16, 2021, 9:06 a.m. | by: | hsueh email: |
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