Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	63895
Gene name	Piezo type mechanosensitive ion channel component 2
Gene symbol	PIEZO2
Synonyms (NCBI Gene)	C18orf30C18orf58DA3DA5DAIPTFAM38BFAM38B2HsT748HsT771MWKS
Chromosome	18
Chromosome location	18p11.22-p11.21
Summary	The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quic

Show/Hide all (36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199842060	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs202104395	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs375812718	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs587777076	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777450	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777451	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777452	C>A,G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777453	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777454	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs724159993	TCTAGTCC>-	Pathogenic	Stop gained, inframe indel, coding sequence variant, genic downstream transcript variant
rs745895175	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs757200280	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs764171255	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs773449118	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853135	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs878853137	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878853138	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878853139	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878853140	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039821	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886039822	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs886039823	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039824	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057519425	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519426	AGC>TTCG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519626	AAGTTCTCAGG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1377703869	A>C	Likely-pathogenic	Splice donor variant
rs1555621138	TCT>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555627917	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs1555630216	C>T	Pathogenic	Splice acceptor variant
rs1555639568	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555648288	C>T	Likely-pathogenic	Splice acceptor variant
rs1568069621	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1598431052	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1598479779	T>G	Pathogenic	Splice acceptor variant
rs1598482405	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence
GO:0005261	Function	Monoatomic cation channel activity	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	ISS
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IBA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IEA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	ISS
GO:0009612	Process	Response to mechanical stimulus	ISS
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032437	Component	Cuticular plate	ISS
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	ISS
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0071260	Process	Cellular response to mechanical stimulus	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0140135	Function	Mechanosensitive monoatomic cation channel activity	ISS

MIM	HGNC	e!Ensembl
613629	26270	ENSG00000154864

Q9H5I5

Protein name

Piezo-type mechanosensitive ion channel component 2 (Protein FAM38B)

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:37590348). Piezo channels are homotrim

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15917	PIEZO	1366 → 1600	Piezo	Family
PF12166	Piezo_RRas_bdg	2340 → 2749	Piezo non-specific cation channel, R-Ras-binding domain	Family

Sequence

MASEVVCGLIFRLLLPICLAVACAFRYNGLSFVYLIYLLLIPLFSEPTKTTMQGHTGRLL
KSLCFISLSFLLLHIIFHITLVSLEAQHRIAPGYNCSTWEKTFRQIGFESLKGADAGNGI
RVFVPDIGMFIASLTIWLLCRNIVQKPVTDEAAQSNPEFENEELAEGEKIDSEEALIYEE
DFNGGDGVEGELEESTKLKMFRRLASVASKLKEFIGNMITTAGKVVVTILLGSSGMMLPS
LTSSVYFFVFLGLCTWWSWCRTFDPLLFSCLCVLLAIFTAGHLIGLYLYQFQFFQEAVPP
NDYYARLFGIKSVIQTDCSSTWKIIVNPDLSWYHHANPILLLVMYYTLATLIRIWLQEPL
VQDEGTKEEDKALACSPIQITAGRRRSLWYATHYPTDERKLLSMTQDDYKPSDGLLVTVN
GNPVDYHTIHPSLPMENGPGKADLYSTPQYRWEPSDESSEKREEEEEEKEEFEEERSREE
KRSIKVHAMVSVFQFIMKQSYICALIAMMAWSITYHSWLTFVLLIWSCTLWMIRNRRKYA
MISSPFMVVYGNLLLILQYIWSFELPEIKKVPGFLEKKEPGELASKILFTITFWLLLRQH
LTEQKALQEKEALLSEVKIGSQENEEKDEELQDIQVEGEPKEEEEEEAKEEKQERKKVEQ
EEAEEEDEQDIMKVLGNLVVAMFIKYWIYVCGGMFFFVSFEGKIVMYKIIYMVLFLFCVA
LYQVHYEWWRKILKYFWMSVVIYTMLVLIFIYTYQFENFPGLWQNMTGLKKEKLEDLGLK
QFTVAELFTRIFIPTSFLLVCILHLHYFHDRFLELTDLKSIPSKEDNTIYRLAHPEGSLP
DLTMMHLTASLEKPEVRKLAEPGEEKLEGYSEKAQKGDLGKDSEESEEDGEEEEESEEEE
ETSDLRNKWHLVIDRLTVLFLKFLEYFHKLQVFMWWILELHIIKIVSSYIIWVSVKEVSL
FNYVFLISWAFALPYAKLRRLASSVCTVWTCVIIVCKMLYQLQTIKPENFSVNCSLPNEN
QTNIPFNELNKSLLYSAPIDPTEWVGLRKSSPLLVYLRNNLLMLAILAFEVTIYRHQEYY
RGRNNLTAPVSRTIFHDITRLHLDDGLINCAKYFINYFFYKFGLETCFLMSVNVIGQRMD
FYAMIHACWLIAVLYRRRRKAIAEIWPKYCCFLACIITFQYFICIGIPPAPCRDYPWRFK
GASFNDNIIKWLYFPDFIVRPNPVFLVYDFMLLLCASLQRQIFEDENKAAVRIMAGDNVE
ICMNLDAASFSQHNPVPDFIHCRSYLDMSKVIIFSYLFWFVLTIIFITGTTRISIFCMGY
LVACFYFLLFGGDLLLKPIKSILRYWDWLIAYNVFVITMKNILSIGACGYIGTLVHNSCW
LIQAFSLACTVKGYQMPAANSPCTLPSGEAGIIWDSICFAFLLLQRRVFMSYYFLHVVAD
IKASQILASRGAELFQATIVKAVKARIEEEKKSMDQLKRQMDRIKARQQKYKKGKERMLS
LTQEPGEGQDMQKLSEEDDEREADKQKAKGKKKQWWRPWVDHASMVRSGDYYLFETDSEE
EEEEELKKEDEEPPRRSAFQFVYQAWITDPKTALRQRHKEKKRSAREERKRRRKGSKEGP
VEWEDREDEPIKKKSDGPDNIIKRIFNILKFTWVLFLATVDSFTTWLNSISREHIDISTV
LRIERCMLTREIKKGNVPTRESIHMYYQNHIMNLSRESGLDTIDEHPGAASGAQTAHRMD
SLDSHDSISSEPTQCTMLYSRQGTTETIEEVEAEQEEEAGSTAPEPREAKEYEATGYDVG
AMGAEEASLTPEEELTQFSTLDGDVEAPPSYSKAVSFEHLSFGSQDDSAGKNRMAVSPDD
SRTDKLGSSILPPLTHELTASELLLKKMFHDDELEESEKFYVGQPRFLLLFYAMYNTLVA
RSEMVCYFVIILNHMVSASMITLLLPILIFLWAMLSVPRPSRRFWMMAIVYTEVAIVVKY
FFQFGFFPWNKNVEVNKDKPYHPPNIIGVEKKEGYVLYDLIQLLALFFHRSILKCHGLWD
EDDMTESGMAREESDDELSLGHGRRDSSDSLKSINLAASVESVHVTFPEQQTAVRRKRSG
SSSEPSQRSSFSSNRSQRGSTSTRNSSQKGSSVLSIKQKGKRELYMEKLQEHLIKAKAFT
IKKTLEIYVPIKQFFYNLIHPEYSAVTDVYVLMFLADTVDFIIIVFGFWAFGKHSAAADI
TSSLSEDQVPGPFLVMVLIQFGTMVVDRALYLRKTVLGKVIFQVILVFGIHFWMFFILPG
VTERKFSQNLVAQLWYFVKCVYFGLSAYQIRCGYPTRVLGNFLTKSYNYVNLFLFQGFRL
VPFLTELRAVMDWVWTDTTLSLSSWICVEDIYAHIFILKCWRESEKRYPQPRGQKKKKVV
KYGMGGMIIVLLICIVWFPLLFMSLIKSVAGVINQPLDVSVTITLGGYQPIFTMSAQQSQ
LKVMDQQSFNKFIQAFSRDTGAMQFLENYEKEDITVAELEGNSNSLWTISPPSKQKMIHE
LLDPNSSFSVVFSWSIQRNLSLGAKSEIATDKLSFPLKNITRKNIAKMIAGNSTESSKTP
VTIEKIYPYYVKAPSDSNSKPIKQLLSENNFMDITIILSRDNTTKYNSEWWVLNLTGNRI
YNPNSQALELVVFNDKVSPPSLGFLAGYGIMGLYASVVLVIGKFVREFFSGISHSIMFEE
LPNVDRILKLCTDIFLVRETGELELEEDLYAKLIFLYRSPETMIKWTREKTN

Sequence length

2752

Interactions

View interactions

412

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Pathogenic	rs2143421042	RCV001814570
Arthrogryposis multiplex congenita	Pathogenic	rs587777450, rs1568069621	RCV000855472 RCV000855470
Arthrogryposis, distal, with impaired proprioception and touch	Pathogenic; Likely pathogenic	rs1567958264, rs2144694433, rs2145486698, rs1276813954, rs587777450, rs2510758244, rs556779970, rs2510748903, rs1176993096, rs771300095, rs985379792, rs2510489205, rs2510758066, rs2035067825, rs886039821 View all (26 more)	RCV001775327 RCV001775328 RCV001824229 RCV001824230 RCV003147342 RCV002289376 RCV002467373 RCV002467374 RCV002790021 RCV003142397 RCV003142485 RCV003142513 RCV003147971 RCV003152965 RCV000256348 RCV000256261 RCV000256311 RCV000256344 RCV003326705 RCV004763644 RCV003314360 RCV003314390 RCV003340969 RCV003337951 RCV003388782 RCV003756642 RCV003756643 RCV003990144 RCV000415567 RCV000415610 RCV000415541 RCV000625965 RCV000625966 RCV000779589 RCV000791052 RCV000985071 RCV000984982 RCV000990072 RCV000990073 RCV005225329 RCV004799399
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	Pathogenic; Likely pathogenic	rs587777076, rs587777450, rs587777452, rs587777453, rs587777454, rs2143913299, rs2144002337, rs2144117079, rs878853135, rs1555621138, rs878853138, rs878853139, rs878853140, rs2510654397, rs587777451, rs1189625999 View all (1 more)	RCV000082866 RCV000224805 RCV000125480 RCV000125482 RCV000125483 RCV002250231 RCV002250232 RCV002250233 RCV000223972 RCV000224433 RCV000224843 RCV000224177 RCV000224516 RCV003388243 RCV005225329 RCV004799399
Congenital ichthyosiform erythroderma	Likely pathogenic	rs2040867555	RCV002244232
Distal arthrogryposis	Pathogenic	rs1555621138	RCV000415170
Exocrine pancreatic insufficiency	Likely pathogenic	rs2040867555	RCV002244232
Failure to thrive	Likely pathogenic	rs2040867555	RCV002244232
FAM38B-related disorder	Likely pathogenic; Pathogenic	rs2510489205	RCV003492822
Familial cancer of breast	Likely pathogenic	rs771300095	RCV005927061
Fetal akinesia deformation sequence 1	Pathogenic	rs587777450, rs1568069621	RCV000855472 RCV000855470
Gordon syndrome	Pathogenic; Likely pathogenic	rs2034210482, rs2035219369, rs724159993, rs587777450, rs587777451, rs1555621138, rs2510766806, rs2511000590, rs587777452, rs990982191, rs1189625999, rs2041679279	RCV001336567 RCV001336566 RCV000125477 RCV000125478 RCV002283456 RCV001007806 RCV004555517 RCV004555518 RCV000778125 RCV005225329 RCV001253560 RCV004799399 RCV001293694
Heterotaxy, visceral, 4, autosomal	Likely pathogenic	rs2510549477	RCV004017186
Hypotonia	Likely pathogenic	rs2144788058	RCV001840950
Marden-Walker syndrome	Likely pathogenic; Pathogenic	rs587777451, rs2510234186, rs2510767400, rs1598479779, rs1189625999	RCV000125479 RCV003225868 RCV003148309 RCV000791051 RCV005225329 RCV004799399
PIEZO2-related disorder	Likely pathogenic; Pathogenic	rs978512526, rs2510697055, rs886039821, rs2510280879, rs2510999732, rs2510473419, rs2510257285, rs2510662499	RCV004542109 RCV002470123 RCV003987482 RCV003230811 RCV003324222 RCV004527871 RCV004539269 RCV004536957
Scoliosis	Likely pathogenic	rs2040867555	RCV002244232

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs5022001, rs62095569, rs34134242	RCV005914766 RCV005919917 RCV005894142
autosomal recessive PIEZO2 associated disease	Conflicting classifications of pathogenicity; Uncertain significance	rs73946020, rs1568013762	RCV000258011 RCV000714677
Cerebral palsy	Conflicting classifications of pathogenicity	rs2144239123	RCV001796584
Cervical cancer	Benign	rs77805105, rs78977374	RCV005918066 RCV005918535
Cholangiocarcinoma	Benign	rs62095569, rs3748429, rs62095567, rs7244687	RCV005919919 RCV005918777 RCV005924577 RCV005922019
Cleft palate	Uncertain significance	rs200626126	RCV005626788
Colon adenocarcinoma	Benign; Likely benign	rs34134242	RCV005894141
Congenital contracture	Likely benign; Uncertain significance	rs149395405, rs1567961103	RCV000678482 RCV000678483
Gastric cancer	Likely benign; Benign	rs140345565, rs7244687, rs147568081	RCV005918900 RCV005922017 RCV005907568
Hepatocellular carcinoma	Benign	rs688714	RCV005921826
Lung cancer	Likely benign; Benign	rs140345565, rs34134242	RCV005918902 RCV005894145
Malignant lymphoma, large B-cell, diffuse	Benign	rs688714	RCV005921827
Malignant tumor of esophagus	Likely benign; Benign	rs111396956, rs140345565, rs77805105, rs371101691	RCV005917462 RCV005918898 RCV005918065 RCV005903059
Myopathy	Uncertain significance	rs1323885459	RCV000850080
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs140345565, rs62095569, rs7244687	RCV005918901 RCV005919918 RCV005922018
Sarcoma	Likely benign; Benign	rs140345565, rs77805105	RCV005918899 RCV005918067
Schizophrenia	Uncertain significance	rs2510317533	RCV002463526
See cases	Uncertain significance	rs753719142, rs2039252074	RCV002252387 RCV002252590
Thymoma	Benign; Likely benign	rs34134242	RCV005894143
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	rs34134242, rs757200280	RCV005894144 RCV005900095
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs77805105, rs34134242	RCV005918068 RCV005894146

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anterior Cruciate Ligament Injuries	Associate	23487782
Anxiety	Associate	35730328
Arthrogryposis	Associate	27843126, 35906671
Arthrogryposis multiplex congenita distal type 1	Associate	23487782, 30285720, 35906671
Bloom Syndrome	Associate	31058608
Breast Neoplasms	Associate	29432180, 31058608, 36077309
Capillary Malformation Arteriovenous Malformation	Associate	23487782
Channelopathies	Associate	23487782
Cleft Palate	Associate	24726473
Contracture	Associate	23487782
Depressive Disorder	Associate	35730328
Distal arthrogryposis type 2B	Associate	30285720
Gordon syndrome	Associate	27843126
Inflammation	Associate	38216574
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	29030909
Lung Diseases	Associate	23487782
Marden Walker syndrome	Associate	24726473, 27843126
Muscular Atrophy	Associate	27843126
Neoplasm Metastasis	Associate	29432180, 36077309, 38216574
Neoplasms	Associate	29432180, 36057880, 38216574
Oculomelic amyoplasia	Associate	23487782, 24726473, 27843126, 35906671
Reinfection	Associate	36012312
Respiratory Distress Syndrome	Associate	27843126
Scoliosis	Associate	27843126
Stomach Neoplasms	Associate	38216574
Triple Negative Breast Neoplasms	Associate	36077309
Wounds and Injuries	Associate	36012312

PIEZO2 (piezo type mechanosensitive ion channel component 2)