Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PIEZO1 (piezo type mechanosensitive ion channel component 1)

Identity

Alias_namesFAM38A
family with sequence similarity 38, member A
piezo-type mechanosensitive ion channel component 1
Alias_symbol (synonym)KIAA0233
Other aliasDHS
LMPH3
Mib
HGNC (Hugo) PIEZO1
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 2016)
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
Cards
Entrez_Gene (NCBI)PIEZO1  9780  piezo type mechanosensitive ion channel component 1
AliasesDHS; FAM38A; LMPH3; Mib
GeneCards (Weizmann)PIEZO1
Ensembl hg19 (Hinxton)ENSG00000103335 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103335 [Gene_View]  chr16:88715338-88785220 [Contig_View]  PIEZO1 [Vega]
ICGC DataPortalENSG00000103335
TCGA cBioPortalPIEZO1
AceView (NCBI)PIEZO1
Genatlas (Paris)PIEZO1
WikiGenes9780
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)
EnsemblPIEZO1 - 16q24.3 [CytoView hg19]  PIEZO1 - 16q24.3 [CytoView hg38]
Mapping of homologs : NCBIPIEZO1 [Mapview hg19]  PIEZO1 [Mapview hg38]
OMIM194380   611184   616843   
Gene and transcription
Genbank (Entrez)AA682915 AA825468 AB161230 AB384448 AK092007
RefSeq transcript (Entrez)NM_001142864
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIEZO1
Cluster EST : UnigeneHs.592074 [ NCBI ]
CGAP (NCI)Hs.592074
Alternative Splicing GalleryENSG00000103335
Gene ExpressionPIEZO1 [ NCBI-GEO ]   PIEZO1 [ EBI - ARRAY_EXPRESS ]   PIEZO1 [ SEEK ]   PIEZO1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIEZO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9780
GTEX Portal (Tissue expression)PIEZO1
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
Splice isoforms : SwissVarQ92508
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
DMDM Disease mutations9780
Blocks (Seattle)PIEZO1
SuperfamilyQ92508
Human Protein AtlasENSG00000103335
Peptide AtlasQ92508
HPRD10945
IPIIPI00917650   IPI00186307   IPI00927149   IPI00980022   
Protein Interaction databases
DIP (DOE-UCLA)Q92508
IntAct (EBI)Q92508
FunCoupENSG00000103335
BioGRIDPIEZO1
STRING (EMBL)PIEZO1
ZODIACPIEZO1
Ontologies - Pathways
QuickGOQ92508
Ontology : AmiGOcation channel activity  cation channel activity  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cation transport  mechanically-gated ion channel activity  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  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cation transport  mechanically-gated ion channel activity  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
HOVERGENQ92508
HOGENOMQ92508
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]  [t(16;16)(q24;q24)]  
Fusion : MitelmanPIEZO1/GALNS [16q24.3/16q24.3]  [t(16;16)(q24;q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIEZO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIEZO1
dbVarPIEZO1
ClinVarPIEZO1
1000_GenomesPIEZO1 
Exome Variant ServerPIEZO1
ExAC (Exome Aggregation Consortium)PIEZO1 (select the gene name)
Genetic variants : HAPMAP9780
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]  
Mutations and Diseases : HGMDPIEZO1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PIEZO1
DgiDB (Drug Gene Interaction Database)PIEZO1
DoCM (Curated mutations)PIEZO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIEZO1 (select a term)
intoGenPIEZO1
Cancer3DPIEZO1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194380    611184    616843   
Orphanet3657   
MedgenPIEZO1
Genetic Testing Registry PIEZO1
NextProtQ92508 [Medical]
TSGene9780
GENETestsPIEZO1
Target ValidationPIEZO1
Huge Navigator PIEZO1 [HugePedia]
snp3D : Map Gene to Disease9780
BioCentury BCIQPIEZO1
ClinGenPIEZO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9780
Chemical/Pharm GKB GenePA128394558
Clinical trialPIEZO1
Miscellaneous
canSAR (ICR)PIEZO1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIEZO1
EVEXPIEZO1
GoPubMedPIEZO1
iHOPPIEZO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:24:44 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.