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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	63895
Gene name Gene Name - the full gene name approved by the HGNC.	Piezo type mechanosensitive ion channel component 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PIEZO2
Synonyms (NCBI Gene) Gene synonyms aliases	C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18p11.22-p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Arthrogryposis, With Impaired Proprioception And Touch	arthrogryposis, distal, with impaired proprioception and touch	rs886039822, rs1598479779, rs886039823, rs764171255, rs886039824, rs1598431052, rs1057519425, rs1203151992, rs1057519426, rs1598482405, rs1057519626, rs1555630216, rs1555648288, rs1568069621, rs886039821	N/A
Gordon Syndrome	gordon syndrome	rs724159993, rs587777450, rs587777451, rs587777452, rs1555621138	N/A
Marden-Walker Syndrome	marden-walker syndrome	rs587777451, rs1598479779	N/A
distal arthrogryposis	Distal arthrogryposis	rs1555621138	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Androgenetic Alopecia	Androgenetic alopecia	N/A	N/A	GWAS
Arthrogryposis multiplex congenita	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	N/A	N/A	GenCC
Congenital contracture	congenital contracture	N/A	N/A	ClinVar
Connective Tissue Disease	connective tissue disorder	N/A	N/A	GenCC
Dental caries	Dental caries	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Myopathy	myopathy	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)