The PIEZO1 gene homepage

General information
Gene symbol PIEZO1
Gene name piezo-type mechanosensitive ion channel component 1
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_001142864.2
Exon/intron information NM_001142864.2 exon/intron table
Associated with diseases DHS, dysplasia, lymphatic, generalised
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 298
Unique public DNA variants reported 243
Individuals with public variants 15
Hidden variants 27
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 13, 2012
Date last updated February 08, 2021
Version PIEZO1:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001142864.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 28993
Entrez Gene 9780
PubMed articles PIEZO1
OMIM - Gene 611184
OMIM - Diseases DHS (stomatocytosis, dehydrated, hereditary, with/without pseudohyperkalemia and/or perinatal edema (DHS, xerocytosis))
GeneCards PIEZO1
GeneTests PIEZO1
Orphanet PIEZO1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001687 16 piezo-type mechanosensitive ion channel component 1 NM_001142864.2 NP_001136336.2 298

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