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PIEZO1 (piezo type mechanosensitive ion channel component 1)

Identity

Alias (NCBI)DHS
FAM38A
LMPH3
LMPHM6
Mib
HGNC (Hugo) PIEZO1
HGNC Alias symbKIAA0233
HGNC Previous nameFAM38A
HGNC Previous namefamily with sequence similarity 38, member A
 piezo-type mechanosensitive ion channel component 1
LocusID (NCBI) 9780
Atlas_Id 52379
Location 16q24.3  [Link to chromosome band 16q24]
Location_base_pair Starts at 88715338 and ends at 88785220 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PIEZO1 (16q24.3) / APRT (16q24.3)PIEZO1 (16q24.3) / CBFA2T3 (16q24.3)PIEZO1 (16q24.3) / GALNS (16q24.3)
PIEZO1 (16q24.3) / UBE4B (1p36.22)PIEZO1 (16q24.3) / WDR4 (21q22.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PIEZO1   28993
LRG (Locus Reference Genomic)LRG_1137
Cards
Entrez_Gene (NCBI)PIEZO1    piezo type mechanosensitive ion channel component 1
AliasesDHS; FAM38A; LMPH3; LMPHM6; 
Mib
GeneCards (Weizmann)PIEZO1
Ensembl hg19 (Hinxton)ENSG00000103335 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103335 [Gene_View]  ENSG00000103335 [Sequence]  chr16:88715338-88785220 [Contig_View]  PIEZO1 [Vega]
ICGC DataPortalENSG00000103335
TCGA cBioPortalPIEZO1
AceView (NCBI)PIEZO1
Genatlas (Paris)PIEZO1
SOURCE (Princeton)PIEZO1
Genetics Home Reference (NIH)PIEZO1
Genomic and cartography
GoldenPath hg38 (UCSC)PIEZO1  -     chr16:88715338-88785220 -  16q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIEZO1  -     16q24.3   [Description]    (hg19-Feb_2009)
GoldenPathPIEZO1 - 16q24.3 [CytoView hg19]  PIEZO1 - 16q24.3 [CytoView hg38]
ImmunoBaseENSG00000103335
Genome Data Viewer NCBIPIEZO1 [Mapview hg19]  
OMIM194380   611184   616843   
Gene and transcription
Genbank (Entrez)AA682915 AA825468 AB161230 AK092007 AL582912
RefSeq transcript (Entrez)NM_001142864
Consensus coding sequences : CCDS (NCBI)PIEZO1
Gene ExpressionPIEZO1 [ NCBI-GEO ]   PIEZO1 [ EBI - ARRAY_EXPRESS ]   PIEZO1 [ SEEK ]   PIEZO1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIEZO1 [ Firebrowse - Broad ]
GenevisibleExpression of PIEZO1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9780
GTEX Portal (Tissue expression)PIEZO1
Human Protein AtlasENSG00000103335-PIEZO1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92508   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92508  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92508
PhosPhoSitePlusQ92508
Domains : Interpro (EBI)Piezo    Piezo_dom    Piezo_RRas-bd_dom   
Domain families : Pfam (Sanger)PIEZO (PF15917)    Piezo_RRas_bdg (PF12166)   
Domain families : Pfam (NCBI)pfam15917    pfam12166   
Conserved Domain (NCBI)PIEZO1
SuperfamilyQ92508
AlphaFold pdb e-kbQ92508   
Human Protein Atlas [tissue]ENSG00000103335-PIEZO1 [tissue]
HPRD10945
Protein Interaction databases
DIP (DOE-UCLA)Q92508
IntAct (EBI)Q92508
BioGRIDPIEZO1
STRING (EMBL)PIEZO1
ZODIACPIEZO1
Ontologies - Pathways
QuickGOQ92508
Ontology : AmiGOcation channel activity  cation channel activity  protein binding  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cation transport  mechanosensitive ion channel activity  positive regulation of myotube differentiation  membrane  integral component of membrane  lamellipodium membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  positive regulation of integrin activation  positive regulation of cell-cell adhesion mediated by integrin  regulation of membrane potential  detection of mechanical stimulus  cellular response to mechanical stimulus  cation transmembrane transport  
Ontology : EGO-EBIcation channel activity  cation channel activity  protein binding  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cation transport  mechanosensitive ion channel activity  positive regulation of myotube differentiation  membrane  integral component of membrane  lamellipodium membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  positive regulation of integrin activation  positive regulation of cell-cell adhesion mediated by integrin  regulation of membrane potential  detection of mechanical stimulus  cellular response to mechanical stimulus  cation transmembrane transport  
NDEx NetworkPIEZO1
Atlas of Cancer Signalling NetworkPIEZO1
Wikipedia pathwaysPIEZO1
Orthology - Evolution
OrthoDB9780
GeneTree (enSembl)ENSG00000103335
Phylogenetic Trees/Animal Genes : TreeFamPIEZO1
Homologs : HomoloGenePIEZO1
Homology/Alignments : Family Browser (UCSC)PIEZO1
Gene fusions - Rearrangements
Fusion : MitelmanPIEZO1/APRT [16q24.3/16q24.3]  
Fusion : MitelmanPIEZO1/CBFA2T3 [16q24.3/16q24.3]  
Fusion : MitelmanPIEZO1/GALNS [16q24.3/16q24.3]  
Fusion : QuiverPIEZO1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIEZO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIEZO1
dbVarPIEZO1
ClinVarPIEZO1
MonarchPIEZO1
1000_GenomesPIEZO1 
Exome Variant ServerPIEZO1
GNOMAD BrowserENSG00000103335
Varsome BrowserPIEZO1
ACMGPIEZO1 variants
VarityQ92508
Genomic Variants (DGV)PIEZO1 [DGVbeta]
DECIPHERPIEZO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIEZO1 
Mutations
ICGC Data PortalPIEZO1 
TCGA Data PortalPIEZO1 
Broad Tumor PortalPIEZO1
OASIS PortalPIEZO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIEZO1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPIEZO1
Mutations and Diseases : HGMDPIEZO1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPIEZO1
DgiDB (Drug Gene Interaction Database)PIEZO1
DoCM (Curated mutations)PIEZO1
CIViC (Clinical Interpretations of Variants in Cancer)PIEZO1
Cancer3DPIEZO1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194380    611184    616843   
Orphanet3657   
DisGeNETPIEZO1
MedgenPIEZO1
Genetic Testing Registry PIEZO1
NextProtQ92508 [Medical]
GENETestsPIEZO1
Target ValidationPIEZO1
Huge Navigator PIEZO1 [HugePedia]
ClinGenPIEZO1
Clinical trials, drugs, therapy
MyCancerGenomePIEZO1
Protein Interactions : CTDPIEZO1
Pharm GKB GenePA128394558
PharosQ92508
Clinical trialPIEZO1
Miscellaneous
canSAR (ICR)PIEZO1
HarmonizomePIEZO1
DataMed IndexPIEZO1
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPIEZO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:25:15 CEST 2021

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