Seroatlas · Human Serome Atlas

PIEZO2

Piezo-type mechanosensitive ion channel component 2

Also known as: C18orf30, C18orf58, FAM38B, FAM38B2, FLJ23144, FLJ23403, FLJ34907, HsT748, HsT771, PIEZ2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H5I5
Gene: PIEZO2
Ensembl: ENSG00000154864
Chromosome: 18
Canonical length: 2752 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Vesicles,Plasma membrane,Cytosol
Quaternary structure: Homotrimer

OverviewNCBI 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 quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

2752 residues, UniProt reviewed canonical sequence.

>Q9H5I5|PIEZO2
     1  MASEVVCGLI FRLLLPICLA VACAFRYNGL SFVYLIYLLL IPLFSEPTKT TMQGHTGRLL
    61  KSLCFISLSF LLLHIIFHIT LVSLEAQHRI APGYNCSTWE KTFRQIGFES LKGADAGNGI
   121  RVFVPDIGMF IASLTIWLLC RNIVQKPVTD EAAQSNPEFE NEELAEGEKI DSEEALIYEE
   181  DFNGGDGVEG ELEESTKLKM FRRLASVASK LKEFIGNMIT TAGKVVVTIL LGSSGMMLPS
   241  LTSSVYFFVF LGLCTWWSWC RTFDPLLFSC LCVLLAIFTA GHLIGLYLYQ FQFFQEAVPP
   301  NDYYARLFGI KSVIQTDCSS TWKIIVNPDL SWYHHANPIL LLVMYYTLAT LIRIWLQEPL
   361  VQDEGTKEED KALACSPIQI TAGRRRSLWY ATHYPTDERK LLSMTQDDYK PSDGLLVTVN
   421  GNPVDYHTIH PSLPMENGPG KADLYSTPQY RWEPSDESSE KREEEEEEKE EFEEERSREE
   481  KRSIKVHAMV SVFQFIMKQS YICALIAMMA WSITYHSWLT FVLLIWSCTL WMIRNRRKYA
   541  MISSPFMVVY GNLLLILQYI WSFELPEIKK VPGFLEKKEP GELASKILFT ITFWLLLRQH
   601  LTEQKALQEK EALLSEVKIG SQENEEKDEE LQDIQVEGEP KEEEEEEAKE EKQERKKVEQ
   661  EEAEEEDEQD IMKVLGNLVV AMFIKYWIYV CGGMFFFVSF EGKIVMYKII YMVLFLFCVA
   721  LYQVHYEWWR KILKYFWMSV VIYTMLVLIF IYTYQFENFP GLWQNMTGLK KEKLEDLGLK
   781  QFTVAELFTR IFIPTSFLLV CILHLHYFHD RFLELTDLKS IPSKEDNTIY RLAHPEGSLP
   841  DLTMMHLTAS LEKPEVRKLA EPGEEKLEGY SEKAQKGDLG KDSEESEEDG EEEEESEEEE
   901  ETSDLRNKWH LVIDRLTVLF LKFLEYFHKL QVFMWWILEL HIIKIVSSYI IWVSVKEVSL
   961  FNYVFLISWA FALPYAKLRR LASSVCTVWT CVIIVCKMLY QLQTIKPENF SVNCSLPNEN
  1021  QTNIPFNELN KSLLYSAPID PTEWVGLRKS SPLLVYLRNN LLMLAILAFE VTIYRHQEYY
  1081  RGRNNLTAPV SRTIFHDITR LHLDDGLINC AKYFINYFFY KFGLETCFLM SVNVIGQRMD
  1141  FYAMIHACWL IAVLYRRRRK AIAEIWPKYC CFLACIITFQ YFICIGIPPA PCRDYPWRFK
  1201  GASFNDNIIK WLYFPDFIVR PNPVFLVYDF MLLLCASLQR QIFEDENKAA VRIMAGDNVE
  1261  ICMNLDAASF SQHNPVPDFI HCRSYLDMSK VIIFSYLFWF VLTIIFITGT TRISIFCMGY
  1321  LVACFYFLLF GGDLLLKPIK SILRYWDWLI AYNVFVITMK NILSIGACGY IGTLVHNSCW
  1381  LIQAFSLACT VKGYQMPAAN SPCTLPSGEA GIIWDSICFA FLLLQRRVFM SYYFLHVVAD
  1441  IKASQILASR GAELFQATIV KAVKARIEEE KKSMDQLKRQ MDRIKARQQK YKKGKERMLS
  1501  LTQEPGEGQD MQKLSEEDDE READKQKAKG KKKQWWRPWV DHASMVRSGD YYLFETDSEE
  1561  EEEEELKKED EEPPRRSAFQ FVYQAWITDP KTALRQRHKE KKRSAREERK RRRKGSKEGP
  1621  VEWEDREDEP IKKKSDGPDN IIKRIFNILK FTWVLFLATV DSFTTWLNSI SREHIDISTV
  1681  LRIERCMLTR EIKKGNVPTR ESIHMYYQNH IMNLSRESGL DTIDEHPGAA SGAQTAHRMD
  1741  SLDSHDSISS EPTQCTMLYS RQGTTETIEE VEAEQEEEAG STAPEPREAK EYEATGYDVG
  1801  AMGAEEASLT PEEELTQFST LDGDVEAPPS YSKAVSFEHL SFGSQDDSAG KNRMAVSPDD
  1861  SRTDKLGSSI LPPLTHELTA SELLLKKMFH DDELEESEKF YVGQPRFLLL FYAMYNTLVA
  1921  RSEMVCYFVI ILNHMVSASM ITLLLPILIF LWAMLSVPRP SRRFWMMAIV YTEVAIVVKY
  1981  FFQFGFFPWN KNVEVNKDKP YHPPNIIGVE KKEGYVLYDL IQLLALFFHR SILKCHGLWD
  2041  EDDMTESGMA REESDDELSL GHGRRDSSDS LKSINLAASV ESVHVTFPEQ QTAVRRKRSG
  2101  SSSEPSQRSS FSSNRSQRGS TSTRNSSQKG SSVLSIKQKG KRELYMEKLQ EHLIKAKAFT
  2161  IKKTLEIYVP IKQFFYNLIH PEYSAVTDVY VLMFLADTVD FIIIVFGFWA FGKHSAAADI
  2221  TSSLSEDQVP GPFLVMVLIQ FGTMVVDRAL YLRKTVLGKV IFQVILVFGI HFWMFFILPG
  2281  VTERKFSQNL VAQLWYFVKC VYFGLSAYQI RCGYPTRVLG NFLTKSYNYV NLFLFQGFRL
  2341  VPFLTELRAV MDWVWTDTTL SLSSWICVED IYAHIFILKC WRESEKRYPQ PRGQKKKKVV
  2401  KYGMGGMIIV LLICIVWFPL LFMSLIKSVA GVINQPLDVS VTITLGGYQP IFTMSAQQSQ
  2461  LKVMDQQSFN KFIQAFSRDT GAMQFLENYE KEDITVAELE GNSNSLWTIS PPSKQKMIHE
  2521  LLDPNSSFSV VFSWSIQRNL SLGAKSEIAT DKLSFPLKNI TRKNIAKMIA GNSTESSKTP
  2581  VTIEKIYPYY VKAPSDSNSK PIKQLLSENN FMDITIILSR DNTTKYNSEW WVLNLTGNRI
  2641  YNPNSQALEL VVFNDKVSPP SLGFLAGYGI MGLYASVVLV IGKFVREFFS GISHSIMFEE
  2701  LPNVDRILKL CTDIFLVRET GELELEEDLY AKLIFLYRSP ETMIKWTREK TN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIEZO2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 38
Mean surface accessibility (rSASA): 0
Highest tissue expression: 5.3 nTPM

Expression across tissuesHPA

Tissue

lung: 5.3 nTPM
gallbladder: 4.4 nTPM
spinal cord: 4.3 nTPM
esophagus: 4.1 nTPM
urinary bladder: 4.1 nTPM
liver: 2.3 nTPM

Single-cell type

oligodendrocytes: 400 nCPM
lymphatic endothelial cells: 344 nCPM
megakaryocyte progenitors: 220 nCPM
gonadotrophs: 161 nCPM
mesothelial cells: 157 nCPM
pancreatic acinar cells: 72 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

white matter: 112 nTPM
basal ganglia: 43 nTPM
medulla oblongata: 40 nTPM
pons: 39 nTPM
cerebral cortex: 38 nTPM
thalamus: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIEZO2.

Disease | AllUniProt

Conditions PIEZO2 is implicated in, by any mechanism.

Arthrogryposis, distal, 5 (DA5) MIM:108145
Arthrogryposis, distal, 3 (DA3) MIM:114300
Marden-Walker syndrome (MWKS) MIM:248700
Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) MIM:617146

Disease | GeneticClinVar

136 pathogenic / likely-pathogenic of 1,458 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Arthrogryposis, distal, with impaired proprioception and touch
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Gordon syndrome
PIEZO2-related disorder
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.37
gnomAD pLI: 0
gnomAD missense Z: 3.44

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PIEZO2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PIEZO2 as an antibody target. Whether an autoantibody or antibody against PIEZO2 could matter depends on whether native PIEZO2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PIEZO2 is annotated at the cell surface, where native PIEZO2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PIEZO2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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