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HPMR

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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


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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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
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name:
type: null mutation
fertility: embryonic lethal
Comment:

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: April 3, 2014, 11:13 a.m. by: hsueh   email:
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last update: May 16, 2021, 9:06 a.m. by: hsueh    email:



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