Human Gene PIEZO1 (uc002flo.5) Description and Page Index
  Description: Homo sapiens piezo-type mechanosensitive ion channel component 1 (PIEZO1), mRNA.
RefSeq Summary (NM_001142864): The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000301015.14/ ENSP00000301015.9 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:88,781,746-88,782,698 Size: 953 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr16:88,782,013-88,782,399 Size: 387 Coding Exon Count: 2 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,781,746-88,782,698)mRNA (may differ from genome)Protein (102 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMGIPubMedStanford SOURCEWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: PIEZO1
Diseases sorted by gene-association score: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema* (1300), lymphedema, hereditary, iii* (900), immune hydrops fetalis (29), hydrops fetalis (11), lymphedema (10), splenic infarction (8), hemolytic anemia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.28 RPKM in Colon - Sigmoid
Total median expression: 796.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -85.60221-0.387 Picture PostScript Text
3' UTR -108.80267-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF384490 - JP 2014500723-A/191993: Polycomb-Associated Non-Coding RNAs.
AK092007 - Homo sapiens cDNA FLJ34688 fis, clone MESAN2000711.
AX747306 - Sequence 831 from Patent EP1308459.
BC016983 - Homo sapiens family with sequence similarity 38, member A, mRNA (cDNA clone IMAGE:4186028), with apparent retained intron.
BC008073 - Homo sapiens family with sequence similarity 38, member A, mRNA (cDNA clone IMAGE:3029644), complete cds.
BC150271 - Homo sapiens family with sequence similarity 38, member A, mRNA (cDNA clone MGC:166873 IMAGE:9007243), complete cds.
D87071 - Homo sapiens mRNA for KIAA0233 gene, complete cds.
JD336225 - Sequence 317249 from Patent EP1572962.
JD125392 - Sequence 106416 from Patent EP1572962.
BC141877 - Homo sapiens cDNA clone IMAGE:40112012, containing frame-shift errors.
JD339830 - Sequence 320854 from Patent EP1572962.
AB161230 - Homo sapiens mRNA for Mib, complete cds.
KC602455 - Homo sapiens PIEZO1 (PIEZO1) mRNA, complete cds.
AB384448 - Synthetic construct DNA, clone: pF1KA0233, Homo sapiens FAM38A gene for FAM38A protein, complete cds, without stop codon, in Flexi system.
KJ902019 - Synthetic construct Homo sapiens clone ccsbBroadEn_11413 PIEZO1 gene, encodes complete protein.
LF375083 - JP 2014500723-A/182586: Polycomb-Associated Non-Coding RNAs.
CU675919 - Synthetic construct Homo sapiens gateway clone IMAGE:100019131 5' read FAM38A mRNA.
LF375084 - JP 2014500723-A/182587: Polycomb-Associated Non-Coding RNAs.
LF375085 - JP 2014500723-A/182588: Polycomb-Associated Non-Coding RNAs.
FR773001 - Homo sapiens microRNA hsa-miR-4722-3p.
HW799041 - WO 2014192907-A/147: Method for detecting miRNA used for differentiating disorders causing motor neuropathy.
HZ481877 - JP 2015535430-A/2383: TERMINALLY MODIFIED RNA.
HZ791808 - JP 2016504050-A/3553: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC514540 - Sequence 4793 from Patent WO2014113089.
LF160485 - JP 2016513950-A/551: Oligomers with improved off-target profile.
LQ072128 - Sequence 2452 from Patent EP2964234.
LZ208060 - WO 2017131208-A/14: Pharmaceutical composition for treatment and/or prevention of cancer.
HZ409526 - JP 2015528002-A/2123: CHIRAL CONTROL.
LG052860 - KR 1020150036642-A/2126: CHIRAL CONTROL.
MA645629 - JP 2017113010-A/3553: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733513 - JP 2017140048-A/2383: TERMINALLY MODIFIED RNA.
MA405639 - WO 2018155427-A/413: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA620067 - JP 2018138019-A/191993: Polycomb-Associated Non-Coding RNAs.
MA610660 - JP 2018138019-A/182586: Polycomb-Associated Non-Coding RNAs.
MA610661 - JP 2018138019-A/182587: Polycomb-Associated Non-Coding RNAs.
MA610662 - JP 2018138019-A/182588: Polycomb-Associated Non-Coding RNAs.
MP025569 - Sequence 14 from Patent EP3409281.
MA802682 - JP 2018183181-A/3553: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA806196 - WO 2018199275-A/456: Kit, device and method for detection of ovary tumor.
MA822594 - WO 2019004436-A/407: Kit, device, and method for detection of lung cancer.
MB406844 - WO 2019159884-A/334: Kit, device, and method for detection of dementia.
MB407237 - WO 2019159884-A/727: Kit, device, and method for detection of dementia.

-  Other Names for This Gene
  Alternate Gene Symbols: AX747306, uc002flo.4
UCSC ID: uc002flo.5
RefSeq Accession: NM_001142864

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AX747306.1
exon count: 3CDS single in 3' UTR: no RNA size: 2535
ORF size: 309CDS single in intron: no Alignment % ID: 99.57
txCdsPredict score: 728.00frame shift in genome: no % Coverage: 31.16
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 13# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.