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Protein

Piezo-type mechanosensitive ion channel component 2

Gene

PIEZO2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Sensory transduction, Transport

Protein family/group databases

TCDBi1.A.75.1.2. the mechanical nociceptor, piezo (piezo) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Piezo-type mechanosensitive ion channel component 2
Alternative name(s):
Protein FAM38B
Gene namesi
Name:PIEZO2
Synonyms:C18orf30, C18orf58, FAM38B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26270. PIEZO2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei5 – 2521HelicalSequence analysisAdd
BLAST
Transmembranei27 – 4721HelicalSequence analysisAdd
BLAST
Transmembranei62 – 8221HelicalSequence analysisAdd
BLAST
Transmembranei119 – 13921HelicalSequence analysisAdd
BLAST
Transmembranei214 – 23421HelicalSequence analysisAdd
BLAST
Transmembranei237 – 25721HelicalSequence analysisAdd
BLAST
Transmembranei266 – 28621HelicalSequence analysisAdd
BLAST
Transmembranei336 – 35621HelicalSequence analysisAdd
BLAST
Transmembranei505 – 52521HelicalSequence analysisAdd
BLAST
Transmembranei541 – 56121HelicalSequence analysisAdd
BLAST
Transmembranei581 – 59818HelicalSequence analysisAdd
BLAST
Transmembranei678 – 69821HelicalSequence analysisAdd
BLAST
Transmembranei704 – 72421HelicalSequence analysisAdd
BLAST
Transmembranei732 – 75221HelicalSequence analysisAdd
BLAST
Transmembranei782 – 80221HelicalSequence analysisAdd
BLAST
Transmembranei932 – 95221HelicalSequence analysisAdd
BLAST
Transmembranei958 – 97821HelicalSequence analysisAdd
BLAST
Transmembranei985 – 100521HelicalSequence analysisAdd
BLAST
Transmembranei1053 – 107321HelicalSequence analysisAdd
BLAST
Transmembranei1134 – 115421HelicalSequence analysisAdd
BLAST
Transmembranei1170 – 119021HelicalSequence analysisAdd
BLAST
Transmembranei1217 – 123721HelicalSequence analysisAdd
BLAST
Transmembranei1291 – 131121HelicalSequence analysisAdd
BLAST
Transmembranei1315 – 133521HelicalSequence analysisAdd
BLAST
Transmembranei1349 – 137123HelicalSequence analysisAdd
BLAST
Transmembranei1404 – 142421HelicalSequence analysisAdd
BLAST
Transmembranei1900 – 192021HelicalSequence analysisAdd
BLAST
Transmembranei1935 – 195521HelicalSequence analysisAdd
BLAST
Transmembranei1967 – 198721HelicalSequence analysisAdd
BLAST
Transmembranei2191 – 221121HelicalSequence analysisAdd
BLAST
Transmembranei2232 – 225221HelicalSequence analysisAdd
BLAST
Transmembranei2260 – 228021HelicalSequence analysisAdd
BLAST
Transmembranei2290 – 231021HelicalSequence analysisAdd
BLAST
Transmembranei2327 – 234418HelicalSequence analysisAdd
BLAST
Transmembranei2358 – 237821HelicalSequence analysisAdd
BLAST
Transmembranei2406 – 242621HelicalSequence analysisAdd
BLAST
Transmembranei2662 – 268221HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 5 (DA5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease.
See also OMIM:108145
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti712 – 7121M → V in DA5. 1 Publication
Corresponds to variant rs587777453 [ dbSNP | Ensembl ].
VAR_071817
Natural varianti802 – 8021I → F in DA5; recovers faster from inactivation. 1 Publication
Corresponds to variant rs587777076 [ dbSNP | Ensembl ].
VAR_070938
Natural varianti2718 – 27181R → L in DA5. 1 Publication
Corresponds to variant rs587777452 [ dbSNP | Ensembl ].
VAR_071304
Natural varianti2718 – 27181R → P in DA5. 1 Publication
Corresponds to variant rs587777452 [ dbSNP | Ensembl ].
VAR_071305
Natural varianti2727 – 27271Missing in DA5; causes slowing of inactivation of PIEZO2-dependent mechanically activated currents as well as significantly faster recovery from inactivation compared to wild-type. 1 Publication
VAR_071818
Natural varianti2739 – 27391S → P in DA5. 1 Publication
Corresponds to variant rs587777454 [ dbSNP | Ensembl ].
VAR_071306
Arthrogryposis, distal, 3 (DA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate.
See also OMIM:114300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2686 – 26861R → H in DA3. 1 Publication
Corresponds to variant rs587777450 [ dbSNP | Ensembl ].
VAR_071303
Marden-Walker syndrome (MWKS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation.
See also OMIM:248700
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2686 – 26861R → C in MWKS. 1 Publication
Corresponds to variant rs587777451 [ dbSNP | Ensembl ].
VAR_071302

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPIEZO2.
MIMi108145. phenotype.
114300. phenotype.
248700. phenotype.
Orphaneti1154. Arthrogryposis with oculomotor limitation and electroretinal anomalies.
376. Gordon syndrome.
2461. Marden-Walker syndrome.
PharmGKBiPA134930761.

Polymorphism and mutation databases

BioMutaiPIEZO2.
DMDMi317373264.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 27522752Piezo-type mechanosensitive ion channel component 2PRO_0000186818Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi95 – 951N-linked (GlcNAc...)Sequence analysis
Modified residuei838 – 8381PhosphoserineBy similarity
Glycosylationi1013 – 10131N-linked (GlcNAc...)Sequence analysis
Glycosylationi1085 – 10851N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9H5I5.
PaxDbiQ9H5I5.
PeptideAtlasiQ9H5I5.
PRIDEiQ9H5I5.

PTM databases

iPTMnetiQ9H5I5.
PhosphoSiteiQ9H5I5.

Expressioni

Gene expression databases

BgeeiENSG00000154864.
CleanExiHS_FAM38B.
ExpressionAtlasiQ9H5I5. baseline and differential.
GenevisibleiQ9H5I5. HS.

Organism-specific databases

HPAiHPA015986.
HPA031974.
HPA040616.

Interactioni

Subunit structurei

Homooligomer, most likely homotetramer. Interacts with STOML3.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000463094.

Structurei

3D structure databases

ProteinModelPortaliQ9H5I5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1458 – 152972Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi453 – 48028Glu-richAdd
BLAST
Compositional biasi609 – 66860Glu-richAdd
BLAST
Compositional biasi852 – 90150Glu-richAdd
BLAST
Compositional biasi2099 – 213537Ser-richAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1893. Eukaryota.
ENOG410YVF6. LUCA.
GeneTreeiENSGT00390000013029.
HOVERGENiHBG060934.
InParanoidiQ9H5I5.
OMAiAENKVPI.
OrthoDBiEOG091G0SD8.
PhylomeDBiQ9H5I5.
TreeFamiTF314295.

Family and domain databases

InterProiIPR027272. Piezo.
IPR031805. Piezo_dom.
IPR031334. Piezo_RRas-bd_dom.
[Graphical view]
PANTHERiPTHR13167. PTHR13167. 3 hits.
PfamiPF15917. PIEZO. 1 hit.
PF12166. Piezo_RRas_bdg. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H5I5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASEVVCGLI FRLLLPICLA VACAFRYNGL SFVYLIYLLL IPLFSEPTKT
60 70 80 90 100
TMQGHTGRLL KSLCFISLSF LLLHIIFHIT LVSLEAQHRI APGYNCSTWE
110 120 130 140 150
KTFRQIGFES LKGADAGNGI RVFVPDIGMF IASLTIWLLC RNIVQKPVTD
160 170 180 190 200
EAAQSNPEFE NEELAEGEKI DSEEALIYEE DFNGGDGVEG ELEESTKLKM
210 220 230 240 250
FRRLASVASK LKEFIGNMIT TAGKVVVTIL LGSSGMMLPS LTSSVYFFVF
260 270 280 290 300
LGLCTWWSWC RTFDPLLFSC LCVLLAIFTA GHLIGLYLYQ FQFFQEAVPP
310 320 330 340 350
NDYYARLFGI KSVIQTDCSS TWKIIVNPDL SWYHHANPIL LLVMYYTLAT
360 370 380 390 400
LIRIWLQEPL VQDEGTKEED KALACSPIQI TAGRRRSLWY ATHYPTDERK
410 420 430 440 450
LLSMTQDDYK PSDGLLVTVN GNPVDYHTIH PSLPMENGPG KADLYSTPQY
460 470 480 490 500
RWEPSDESSE KREEEEEEKE EFEEERSREE KRSIKVHAMV SVFQFIMKQS
510 520 530 540 550
YICALIAMMA WSITYHSWLT FVLLIWSCTL WMIRNRRKYA MISSPFMVVY
560 570 580 590 600
GNLLLILQYI WSFELPEIKK VPGFLEKKEP GELASKILFT ITFWLLLRQH
610 620 630 640 650
LTEQKALQEK EALLSEVKIG SQENEEKDEE LQDIQVEGEP KEEEEEEAKE
660 670 680 690 700
EKQERKKVEQ EEAEEEDEQD IMKVLGNLVV AMFIKYWIYV CGGMFFFVSF
710 720 730 740 750
EGKIVMYKII YMVLFLFCVA LYQVHYEWWR KILKYFWMSV VIYTMLVLIF
760 770 780 790 800
IYTYQFENFP GLWQNMTGLK KEKLEDLGLK QFTVAELFTR IFIPTSFLLV
810 820 830 840 850
CILHLHYFHD RFLELTDLKS IPSKEDNTIY RLAHPEGSLP DLTMMHLTAS
860 870 880 890 900
LEKPEVRKLA EPGEEKLEGY SEKAQKGDLG KDSEESEEDG EEEEESEEEE
910 920 930 940 950
ETSDLRNKWH LVIDRLTVLF LKFLEYFHKL QVFMWWILEL HIIKIVSSYI
960 970 980 990 1000
IWVSVKEVSL FNYVFLISWA FALPYAKLRR LASSVCTVWT CVIIVCKMLY
1010 1020 1030 1040 1050
QLQTIKPENF SVNCSLPNEN QTNIPFNELN KSLLYSAPID PTEWVGLRKS
1060 1070 1080 1090 1100
SPLLVYLRNN LLMLAILAFE VTIYRHQEYY RGRNNLTAPV SRTIFHDITR
1110 1120 1130 1140 1150
LHLDDGLINC AKYFINYFFY KFGLETCFLM SVNVIGQRMD FYAMIHACWL
1160 1170 1180 1190 1200
IAVLYRRRRK AIAEIWPKYC CFLACIITFQ YFICIGIPPA PCRDYPWRFK
1210 1220 1230 1240 1250
GASFNDNIIK WLYFPDFIVR PNPVFLVYDF MLLLCASLQR QIFEDENKAA
1260 1270 1280 1290 1300
VRIMAGDNVE ICMNLDAASF SQHNPVPDFI HCRSYLDMSK VIIFSYLFWF
1310 1320 1330 1340 1350
VLTIIFITGT TRISIFCMGY LVACFYFLLF GGDLLLKPIK SILRYWDWLI
1360 1370 1380 1390 1400
AYNVFVITMK NILSIGACGY IGTLVHNSCW LIQAFSLACT VKGYQMPAAN
1410 1420 1430 1440 1450
SPCTLPSGEA GIIWDSICFA FLLLQRRVFM SYYFLHVVAD IKASQILASR
1460 1470 1480 1490 1500
GAELFQATIV KAVKARIEEE KKSMDQLKRQ MDRIKARQQK YKKGKERMLS
1510 1520 1530 1540 1550
LTQEPGEGQD MQKLSEEDDE READKQKAKG KKKQWWRPWV DHASMVRSGD
1560 1570 1580 1590 1600
YYLFETDSEE EEEEELKKED EEPPRRSAFQ FVYQAWITDP KTALRQRHKE
1610 1620 1630 1640 1650
KKRSAREERK RRRKGSKEGP VEWEDREDEP IKKKSDGPDN IIKRIFNILK
1660 1670 1680 1690 1700
FTWVLFLATV DSFTTWLNSI SREHIDISTV LRIERCMLTR EIKKGNVPTR
1710 1720 1730 1740 1750
ESIHMYYQNH IMNLSRESGL DTIDEHPGAA SGAQTAHRMD SLDSHDSISS
1760 1770 1780 1790 1800
EPTQCTMLYS RQGTTETIEE VEAEQEEEAG STAPEPREAK EYEATGYDVG
1810 1820 1830 1840 1850
AMGAEEASLT PEEELTQFST LDGDVEAPPS YSKAVSFEHL SFGSQDDSAG
1860 1870 1880 1890 1900
KNRMAVSPDD SRTDKLGSSI LPPLTHELTA SELLLKKMFH DDELEESEKF
1910 1920 1930 1940 1950
YVGQPRFLLL FYAMYNTLVA RSEMVCYFVI ILNHMVSASM ITLLLPILIF
1960 1970 1980 1990 2000
LWAMLSVPRP SRRFWMMAIV YTEVAIVVKY FFQFGFFPWN KNVEVNKDKP
2010 2020 2030 2040 2050
YHPPNIIGVE KKEGYVLYDL IQLLALFFHR SILKCHGLWD EDDMTESGMA
2060 2070 2080 2090 2100
REESDDELSL GHGRRDSSDS LKSINLAASV ESVHVTFPEQ QTAVRRKRSG
2110 2120 2130 2140 2150
SSSEPSQRSS FSSNRSQRGS TSTRNSSQKG SSVLSIKQKG KRELYMEKLQ
2160 2170 2180 2190 2200
EHLIKAKAFT IKKTLEIYVP IKQFFYNLIH PEYSAVTDVY VLMFLADTVD
2210 2220 2230 2240 2250
FIIIVFGFWA FGKHSAAADI TSSLSEDQVP GPFLVMVLIQ FGTMVVDRAL
2260 2270 2280 2290 2300
YLRKTVLGKV IFQVILVFGI HFWMFFILPG VTERKFSQNL VAQLWYFVKC
2310 2320 2330 2340 2350
VYFGLSAYQI RCGYPTRVLG NFLTKSYNYV NLFLFQGFRL VPFLTELRAV
2360 2370 2380 2390 2400
MDWVWTDTTL SLSSWICVED IYAHIFILKC WRESEKRYPQ PRGQKKKKVV
2410 2420 2430 2440 2450
KYGMGGMIIV LLICIVWFPL LFMSLIKSVA GVINQPLDVS VTITLGGYQP
2460 2470 2480 2490 2500
IFTMSAQQSQ LKVMDQQSFN KFIQAFSRDT GAMQFLENYE KEDITVAELE
2510 2520 2530 2540 2550
GNSNSLWTIS PPSKQKMIHE LLDPNSSFSV VFSWSIQRNL SLGAKSEIAT
2560 2570 2580 2590 2600
DKLSFPLKNI TRKNIAKMIA GNSTESSKTP VTIEKIYPYY VKAPSDSNSK
2610 2620 2630 2640 2650
PIKQLLSENN FMDITIILSR DNTTKYNSEW WVLNLTGNRI YNPNSQALEL
2660 2670 2680 2690 2700
VVFNDKVSPP SLGFLAGYGI MGLYASVVLV IGKFVREFFS GISHSIMFEE
2710 2720 2730 2740 2750
LPNVDRILKL CTDIFLVRET GELELEEDLY AKLIFLYRSP ETMIKWTREK

TN
Length:2,752
Mass (Da):318,064
Last modified:January 11, 2011 - v2
Checksum:iAD11A1FCEB6D0079
GO
Isoform 2 (identifier: Q9H5I5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2387-2449: Missing.

Note: No experimental confirmation available.
Show »
Length:2,689
Mass (Da):311,074
Checksum:iAABB4B9D00BD9A7B
GO
Isoform 3 (identifier: Q9H5I5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2043: Missing.

Note: No experimental confirmation available.
Show »
Length:709
Mass (Da):80,795
Checksum:iDBD498DC75245E19
GO
Isoform 4 (identifier: Q9H5I5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     831-831: R → SHAKVNGRVYLIINSIKKKLPIHQNE

Note: No experimental confirmation available.
Show »
Length:2,777
Mass (Da):320,890
Checksum:i466021E614EDCFFC
GO

Sequence cautioni

The sequence BAB15556 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15556 differs from that shown. Reason: Erroneous termination at position 2718. Translated as Arg.Curated
The sequence BAB15641 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC03832 differs from that shown.Unlikely isoform. Aberrant splice sites.Curated
The sequence BAC05412 differs from that shown.Contaminating sequence at the 3'end. Probable cloning artifact.Curated
The sequence BAC05412 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti455 – 4551S → F in BAC03832 (PubMed:14702039).Curated
Sequence conflicti758 – 7581N → D in BAC05412 (PubMed:14702039).Curated
Sequence conflicti980 – 9801R → C in BAC87063 (PubMed:14702039).Curated
Sequence conflicti999 – 9991L → S in BAC05412 (PubMed:14702039).Curated
Sequence conflicti1175 – 11751C → G in BAC87063 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti712 – 7121M → V in DA5. 1 Publication
Corresponds to variant rs587777453 [ dbSNP | Ensembl ].
VAR_071817
Natural varianti802 – 8021I → F in DA5; recovers faster from inactivation. 1 Publication
Corresponds to variant rs587777076 [ dbSNP | Ensembl ].
VAR_070938
Natural varianti1354 – 13541V → I.2 Publications
Corresponds to variant rs7234309 [ dbSNP | Ensembl ].
VAR_071039
Natural varianti2463 – 24631V → I.1 Publication
Corresponds to variant rs3748428 [ dbSNP | Ensembl ].
VAR_033925
Natural varianti2686 – 26861R → C in MWKS. 1 Publication
Corresponds to variant rs587777451 [ dbSNP | Ensembl ].
VAR_071302
Natural varianti2686 – 26861R → H in DA3. 1 Publication
Corresponds to variant rs587777450 [ dbSNP | Ensembl ].
VAR_071303
Natural varianti2718 – 27181R → L in DA5. 1 Publication
Corresponds to variant rs587777452 [ dbSNP | Ensembl ].
VAR_071304
Natural varianti2718 – 27181R → P in DA5. 1 Publication
Corresponds to variant rs587777452 [ dbSNP | Ensembl ].
VAR_071305
Natural varianti2727 – 27271Missing in DA5; causes slowing of inactivation of PIEZO2-dependent mechanically activated currents as well as significantly faster recovery from inactivation compared to wild-type. 1 Publication
VAR_071818
Natural varianti2739 – 27391S → P in DA5. 1 Publication
Corresponds to variant rs587777454 [ dbSNP | Ensembl ].
VAR_071306

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 20432043Missing in isoform 3. 1 PublicationVSP_040471Add
BLAST
Alternative sequencei831 – 8311R → SHAKVNGRVYLIINSIKKKL PIHQNE in isoform 4. 1 PublicationVSP_040630
Alternative sequencei2387 – 244963Missing in isoform 2. 1 PublicationVSP_040472Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JN790819 mRNA. Translation: AFC88283.1.
AK026797 mRNA. Translation: BAB15556.1. Sequence problems.
AK027056 mRNA. Translation: BAB15641.1. Different initiation.
AK092226 mRNA. Translation: BAC03832.1. Sequence problems.
AK098782 mRNA. Translation: BAC05412.1. Sequence problems.
AK127627 mRNA. Translation: BAC87063.1.
AK302764 mRNA. Translation: BAH13798.1.
AP001180 Genomic DNA. No translation available.
AP005117 Genomic DNA. No translation available.
AP005120 Genomic DNA. No translation available.
AP005404 Genomic DNA. No translation available.
AP005793 Genomic DNA. No translation available.
CCDSiCCDS11850.2. [Q9H5I5-1]
RefSeqiNP_071351.2. NM_022068.3. [Q9H5I5-1]
XP_011524026.1. XM_011525724.2. [Q9H5I5-4]
UniGeneiHs.436902.

Genome annotation databases

EnsembliENST00000302079; ENSP00000303316; ENSG00000154864. [Q9H5I5-2]
ENST00000503781; ENSP00000421377; ENSG00000154864. [Q9H5I5-1]
ENST00000538948; ENSP00000443129; ENSG00000154864. [Q9H5I5-3]
ENST00000580640; ENSP00000463094; ENSG00000154864. [Q9H5I5-4]
GeneIDi63895.
KEGGihsa:63895.
UCSCiuc002koq.4. human. [Q9H5I5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JN790819 mRNA. Translation: AFC88283.1.
AK026797 mRNA. Translation: BAB15556.1. Sequence problems.
AK027056 mRNA. Translation: BAB15641.1. Different initiation.
AK092226 mRNA. Translation: BAC03832.1. Sequence problems.
AK098782 mRNA. Translation: BAC05412.1. Sequence problems.
AK127627 mRNA. Translation: BAC87063.1.
AK302764 mRNA. Translation: BAH13798.1.
AP001180 Genomic DNA. No translation available.
AP005117 Genomic DNA. No translation available.
AP005120 Genomic DNA. No translation available.
AP005404 Genomic DNA. No translation available.
AP005793 Genomic DNA. No translation available.
CCDSiCCDS11850.2. [Q9H5I5-1]
RefSeqiNP_071351.2. NM_022068.3. [Q9H5I5-1]
XP_011524026.1. XM_011525724.2. [Q9H5I5-4]
UniGeneiHs.436902.

3D structure databases

ProteinModelPortaliQ9H5I5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000463094.

Protein family/group databases

TCDBi1.A.75.1.2. the mechanical nociceptor, piezo (piezo) family.

PTM databases

iPTMnetiQ9H5I5.
PhosphoSiteiQ9H5I5.

Polymorphism and mutation databases

BioMutaiPIEZO2.
DMDMi317373264.

Proteomic databases

MaxQBiQ9H5I5.
PaxDbiQ9H5I5.
PeptideAtlasiQ9H5I5.
PRIDEiQ9H5I5.

Protocols and materials databases

DNASUi63895.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302079; ENSP00000303316; ENSG00000154864. [Q9H5I5-2]
ENST00000503781; ENSP00000421377; ENSG00000154864. [Q9H5I5-1]
ENST00000538948; ENSP00000443129; ENSG00000154864. [Q9H5I5-3]
ENST00000580640; ENSP00000463094; ENSG00000154864. [Q9H5I5-4]
GeneIDi63895.
KEGGihsa:63895.
UCSCiuc002koq.4. human. [Q9H5I5-1]

Organism-specific databases

CTDi63895.
GeneCardsiPIEZO2.
HGNCiHGNC:26270. PIEZO2.
HPAiHPA015986.
HPA031974.
HPA040616.
MalaCardsiPIEZO2.
MIMi108145. phenotype.
114300. phenotype.
248700. phenotype.
613629. gene.
neXtProtiNX_Q9H5I5.
Orphaneti1154. Arthrogryposis with oculomotor limitation and electroretinal anomalies.
376. Gordon syndrome.
2461. Marden-Walker syndrome.
PharmGKBiPA134930761.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1893. Eukaryota.
ENOG410YVF6. LUCA.
GeneTreeiENSGT00390000013029.
HOVERGENiHBG060934.
InParanoidiQ9H5I5.
OMAiAENKVPI.
OrthoDBiEOG091G0SD8.
PhylomeDBiQ9H5I5.
TreeFamiTF314295.

Miscellaneous databases

ChiTaRSiPIEZO2. human.
GenomeRNAii63895.
PROiQ9H5I5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154864.
CleanExiHS_FAM38B.
ExpressionAtlasiQ9H5I5. baseline and differential.
GenevisibleiQ9H5I5. HS.

Family and domain databases

InterProiIPR027272. Piezo.
IPR031805. Piezo_dom.
IPR031334. Piezo_RRas-bd_dom.
[Graphical view]
PANTHERiPTHR13167. PTHR13167. 3 hits.
PfamiPF15917. PIEZO. 1 hit.
PF12166. Piezo_RRas_bdg. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIEZ2_HUMAN
AccessioniPrimary (citable) accession number: Q9H5I5
Secondary accession number(s): B7Z812
, M4GPJ9, Q6ZS91, Q8N787, Q8NAR6, Q9H5R4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: January 11, 2011
Last modified: September 7, 2016
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Piezo comes from the Greek 'piesi' meaning pressure.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.