The PIEZO2 gene homepage

General information
Gene symbol PIEZO2
Gene name piezo-type mechanosensitive ion channel component 2
Chromosome 18
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NG_034005.1
Transcript reference NM_001378183.1
Exon/intron information NM_001378183.1 exon/intron table
Associated with diseases DA3, DA5, DAIPT, MWKS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 69
Unique public DNA variants reported 37
Individuals with public variants 181
Hidden variants 22
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 May 23, 2014
Date last updated July 07, 2023
Version PIEZO2:230707

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_001378183.1.
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
External URL
HGNC 26270
Entrez Gene 63895
PubMed articles PIEZO2
OMIM - Gene 613629
OMIM - Diseases DA3 (arthrogryposis, distal, type 3 (DA-3, Gordon syndrome))
DA5 (arthrogryposis, distal, type 5 (DA-5))
DAIPT (Arthrogryposis, distal, with impaired proprioception and touch)
MWKS (Marden Walker syndrome (MWKS))
GeneCards PIEZO2
GeneTests PIEZO2
Orphanet PIEZO2

Active transcripts




NCBI ID     

NCBI Protein ID     

00025780 18 transcript variant 1 NM_001378183.1 NP_001365112.1 69

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