PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group))

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9780
Gene name Piezo type mechanosensitive ion channel component 1 (Er blood group)
Gene symbol PIEZO1
Synonyms (NCBI Gene)
DHSERFAM38ALMPH3LMPHM6Mib
Chromosome 16
Chromosome location 16q24.3
Summary 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 w
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs587776989 C>T Pathogenic Missense variant, coding sequence variant
rs587776990 C>G Pathogenic Missense variant, coding sequence variant
rs587776991 G>A Likely-pathogenic Missense variant, coding sequence variant
rs587777764 G>A Pathogenic Missense variant, coding sequence variant
rs587777765 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
32
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (32)
miRTarBase ID miRNA Experiments Reference
MIRT006294 hsa-miR-10b-5p Luciferase reporter assay 22322955
MIRT006294 hsa-miR-10b-5p Luciferase reporter assay 22322955
MIRT006294 hsa-miR-10b-5p Luciferase reporter assay 22322955
MIRT036601 hsa-miR-940 CLASH 23622248
MIRT490028 hsa-miR-885-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0005261 Function Monoatomic cation channel activity IBA
GO:0005261 Function Monoatomic cation channel activity ISS
GO:0005515 Function Protein binding IPI 24798994, 28514442, 33961781
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 20016066
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611184 28993 ENSG00000103335
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92508
Protein name Piezo-type mechanosensitive ion channel component 1 (Membrane protein induced by beta-amyloid treatment) (Mib) (Protein FAM38A)
Protein function Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (PubMed:23479567, PubMed:23695678, PubMed:2595
PDB 8YEZ , 8YFC , 8YFG , 8ZU3 , 8ZU8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15917 PIEZO 1235 → 1465 Piezo Family
PF12166 Piezo_RRas_bdg 2111 → 2519 Piezo non-specific cation channel, R-Ras-binding domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson
Sequence 
MEPHVLGAVLYWLLLPCALLAACLLRFSGLSLVYLLFLLLLPWFPGPTRCGLQGHTGRLL
RALLGLSLLFLVAHLALQICLHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIR
LVAPDLGILVVSSVCLGICGRLARNTRQSPHPRELDDDERDVDASPTAGLQEAATLAPTR
RSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYLLLFLALCTWWACHFPI
STRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPH
ALVLNTGLDWPVYASPGVLLLLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQ
WPQERESDQHVVPTAPDTEADNCIVHELTGQSSVLRRPVRPKRAEPREASPLHSLGHLIM
DQSYVCALIAMMVWSITYHSWLTFVLLLWACLIWTVRSRHQLAMLCSPCILLYGMTLCCL
RYVWAMDLRPELPTTLGPVSLRQLGLEHTRYPCLDLGAMLLYTLTFWLLLRQFVKEKLLK
WAESPAALTEVTVADTEPTRTQTLLQSLGELVKGVYAKYWIYVCAGMFIVVSFAGRLVVY
KIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLVLIAVYTFQFQDFPAYWRNLT
GFTDEQLGDLGLEQFSVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTR
LPRWAHRQDAVSGTPLLREEQQEHQQQQQEEEEEEEDSRDEGLGVATPHQATQVPEGAAK
WGLVAERLLELAAGFSDVLSRVQVFLRRLLELHVFKLVALYTVWVALKEVSVMNLLLVVL
WAFALPYPRFRPMASCLSTVWTCVIIVCKMLYQLKVVNPQEYSSNCTEPFPNSTNLLPTE
ISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAIVYRRQEHYRRQHQLAP
LPAQAVFASGTRQQLDQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGC
WLVAILTRRHRQAIARLWPNYCLFLALFLLYQYLLCLGMPPALCIDYPWRWSRAVPMNSA
LIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAERTEEWQRMAGVNTDRLEPLRG
EPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFG
TALLQRDTRARLVLWDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTV
KGYYDPKEMMDRDQDCLLPVEEAGIIWDSVCFFFLLLQRRVFLSHYYLHVRADLQATALL
ASRGFALYNAANLKSIDFHRRIEEKSLAQLKRQMERIRAKQEKHRQGRVDRSRPQDTLGP
KDPGLEPGPDSPGGSSPPRRQWWRPWLDHATVIHSGDYFLFESDSEEEEEAVPEDPRPSA
QSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPSQEVEPAEGPEEAAAGR
SHVVQRVLSTAQFLWMLGQALVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEV
HRGVLDQLYTSQAEATLPGPTEAPNAPSTVSSGLGAEEPLSSMTDDMGSPLSTGYHTRSG
SEEAVTDPGEREAGASLYQGLMRTASELLLDRRLRIPELEEAELFAEGQGRALRLLRAVY
QCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRPSKRFWMTAIVFTEIA
VVVKYLFQFGFFPWNSHVVLRRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQL
LCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTEDHIQVEARVGPTDGTPEPQVE
LRPRDTRRISLRFRRRKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRV
RAAGRRLQGFCLSLAQGTYRPLRRFFHDILHTKYRAATDVYALMFLADVVDFIIIIFGFW
AFGKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYLRKTVLGKLAFQVALVLA
IHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQIRCGYPTRILGNFLTKKYNH
LNLFLFQGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYP
QPKGQKKKKIVKYGMGGLIILFLIAIIWFPLLFMSLVRSVVGVVNQPIDVTVTLKLGGYE
PLFTMSAQQPSIIPFTAQAYEELSRQFDPQPLAMQFISQYSPEDIVTAQIEGSSGALWRI
SPPSRAQMKRELYNGTADITLRFTWNFQRDLAKGGTVEYANEKHMLALAPNSTARRQLAS
LLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLGVRIQLRREQGAGATGF
LEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGFFS
EISHSIMFEELPCVDRILKLCQDIFLVRETRELELEEELYAKLIFLYRSPETMIKWTREK
E
Sequence length 2521
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
707
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (9)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Blood group, ER Pathogenic rs587776992, rs587776988 RCV005018795
RCV005016344
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Likely pathogenic; Pathogenic rs72811487, rs759026521, rs776709730, rs1430652756, rs587776988, rs587776992, rs587776987, rs587776989, rs587776990, rs587776991, rs1597457977, rs1904552378, rs1904821405 RCV004820884
RCV001849890
RCV002286446
RCV003444070
RCV004555187
RCV000049237
RCV000049231
RCV000049232
RCV000049233
RCV000049234
RCV000049236
RCV001029751
RCV001257445
RCV001257446
Diffuse lymphatic malformation Likely pathogenic rs2507853082 RCV004018307
ER BLOOD GROUP SYSTEM, ER(a-b-) Likely pathogenic; Pathogenic rs72811487 RCV003152634
Show/Hide Unknown Diseases (23)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs587777766 -
Acute myeloid leukemia Benign; Likely benign; Uncertain significance rs73264770, rs78759106, rs531726443, rs2242164, rs202066744 RCV005924553
RCV005923741
RCV005934828
RCV005900962
RCV005912324
Cervical cancer Benign; Conflicting classifications of pathogenicity rs73264770, rs767465849, rs746901224, rs540049109, rs149858134 RCV005924554
RCV005922582
RCV005934798
RCV005910847
RCV005910912
Cholangiocarcinoma Benign rs79319346 RCV005923445
Show/Hide Text Mining Associations (74)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38494915
Anemia Associate 23972840
Anemia Hemolytic Associate 26387913, 36595486, 39304946
Anemia Hemolytic Congenital Associate 28716860
Anemia Sickle Cell Associate 34014839
Atrial Remodeling Associate 33809739
beta Thalassemia Associate 36882369
Bicuspid Aortic Valve Disease Associate 34489534
Brain Edema Associate 32675337
Breast Neoplasms Associate 33210711, 34979904, 35351580