PKD2 (англ. Polycystin 2, transient receptor potential cation channel) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 4-ї хромосоми. Довжина поліпептидного ланцюга білка становить 968 амінокислот, а молекулярна маса — 109 691.
PKD2 | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | PKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel | ||||||||||||||||
Зовнішні ІД | OMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2 | ||||||||||||||||
Пов'язані генетичні захворювання | |||||||||||||||||
polycystic kidney disease 2, polycystic kidney disease, Полікістоз нирок | |||||||||||||||||
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Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 4: 88.01 – 88.08 Mb | Хр. 5: 104.61 – 104.65 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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MVNSSRVQPQ | QPGDAKRPPA | PRAPDPGRLM | AGCAAVGASL | AAPGGLCEQR | ||||
GLEIEMQRIR | QAAARDPPAG | AAASPSPPLS | SCSRQAWSRD | NPGFEAEEEE | ||||
EEVEGEEGGM | VVEMDVEWRP | GSRRSAASSA | VSSVGARSRG | LGGYHGAGHP | ||||
SGRRRRREDQ | GPPCPSPVGG | GDPLHRHLPL | EGQPPRVAWA | ERLVRGLRGL | ||||
WGTRLMEESS | TNREKYLKSV | LRELVTYLLF | LIVLCILTYG | MMSSNVYYYT | ||||
RMMSQLFLDT | PVSKTEKTNF | KTLSSMEDFW | KFTEGSLLDG | LYWKMQPSNQ | ||||
TEADNRSFIF | YENLLLGVPR | IRQLRVRNGS | CSIPQDLRDE | IKECYDVYSV | ||||
SSEDRAPFGP | RNGTAWIYTS | EKDLNGSSHW | GIIATYSGAG | YYLDLSRTRE | ||||
ETAAQVASLK | KNVWLDRGTR | ATFIDFSVYN | ANINLFCVVR | LLVEFPATGG | ||||
VIPSWQFQPL | KLIRYVTTFD | FFLAACEIIF | CFFIFYYVVE | EILEIRIHKL | ||||
HYFRSFWNCL | DVVIVVLSVV | AIGINIYRTS | NVEVLLQFLE | DQNTFPNFEH | ||||
LAYWQIQFNN | IAAVTVFFVW | IKLFKFINFN | RTMSQLSTTM | SRCAKDLFGF | ||||
AIMFFIIFLA | YAQLAYLVFG | TQVDDFSTFQ | ECIFTQFRII | LGDINFAEIE | ||||
EANRVLGPIY | FTTFVFFMFF | ILLNMFLAII | NDTYSEVKSD | LAQQKAEMEL | ||||
SDLIRKGYHK | ALVKLKLKKN | TVDDISESLR | QGGGKLNFDE | LRQDLKGKGH | ||||
TDAEIEAIFT | KYDQDGDQEL | TEHEHQQMRD | DLEKEREDLD | LDHSSLPRPM | ||||
SSRSFPRSLD | DSEEDDDEDS | GHSSRRRGSI | SSGVSYEEFQ | VLVRRVDRME | ||||
HSIGSIVSKI | DAVIVKLEIM | ERAKLKRREV | LGRLLDGVAE | DERLGRDSEI | ||||
HREQMERLVR | EELERWESDD | AASQISHGLG | TPVGLNGQPR | PRSSRPSSSQ | ||||
STEGMEGAGG | NGSSNVHV |
Кодований геном білок за функціями належить до іонних каналів, потенціалзалежних каналів, фосфопротеїнів. Задіяний у таких біологічних процесах як транспорт іонів, транспорт, транспорт калію, транспорт кальцію, поліморфізм, альтернативний сплайсинг. Білок має сайт для зв'язування з іонами металів, іоном кальцію, калію. Локалізований у клітинній мембрані, мембрані, ендоплазматичному ретикулумі, клітинних відростках, війках, цитоплазматичних везикулах.
Література
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
- Gallagher A.R., Cedzich A., Gretz N., Somlo S., Witzgall R. (2000). The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc. Natl. Acad. Sci. U.S.A. 97: 4017—4022. PMID 10760273 DOI:10.1073/pnas.97.8.4017
- Stayner C., Zhou J. (2001). Polycystin channels and kidney disease. Trends Pharmacol. Sci. 22: 543—546. PMID 11698076 DOI:10.1016/S0165-6147(00)01832-0
- Streets A.J., Moon D.J., Kane M.E., Obara T., Ong A.C. (2006). Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro. Hum. Mol. Genet. 15: 1465—1473. PMID 16551655 DOI:10.1093/hmg/ddl070
- Streets A.J., Needham A.J., Gill S.K., Ong A.C. (2010). Protein kinase D-mediated phosphorylation of polycystin-2 (TRPP2) is essential for its effects on cell growth and calcium channel activity. Mol. Biol. Cell. 21: 3853—3865. PMID 20881056 DOI:10.1091/mbc.E10-04-0377
- del Rocio Cantero M., Velazquez I.F., Streets A.J., Ong A.C.M., Cantiello H.F. (2015). The cAMP Signaling Pathway and Direct Protein Kinase A Phosphorylation Regulate Polycystin-2 (TRPP2) Channel Function. J. Biol. Chem. 290: 23888—23896. PMID 26269590 DOI:10.1074/jbc.M115.661082
Примітки
- Захворювання, генетично пов'язані з PKD2 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- (англ.) . Архів оригіналу за 27 березня 2016. Процитовано 30 серпня 2017.
- (англ.) . Архів оригіналу за 25 вересня 2017. Процитовано 30 серпня 2017.
Див. також
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PKD2 angl Polycystin 2 transient receptor potential cation channel bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 4 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 968 aminokislot a molekulyarna masa 109 691 PKD2Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2KLD 2KLE 2KQ6 2Y4Q 3HRN 3HROIdentifikatoriSimvoliPKD2 APC2 PKD4 Pc 2 TRPP2 Polycystic kidney disease 2 polycystin 2 transient receptor potential cation channelZovnishni ID OMIM 173910 MGI 1099818 HomoloGene 20104 GeneCards PKD2Pov yazani genetichni zahvoryuvannyapolycystic kidney disease 2 polycystic kidney disease Polikistoz nirok Ontologiya genaMolekulyarna funkciya transmembrane transporter binding cytoskeletal protein binding signaling receptor binding muscle alpha actinin binding zv yazuvannya z ionom metalu HLH domain binding voltage gated cation channel activity protein homodimerization activity calcium induced calcium release activity channel activity GO 0001948 GO 0016582 protein binding actinin binding voltage gated calcium channel activity calcium channel activity phosphoprotein binding alpha actinin binding identical protein binding ATPase binding calcium ion binding outward rectifier potassium channel activity voltage gated sodium channel activity voltage gated potassium channel activity potassium channel activity voltage gated ion channel activityKlitinna komponenta filamentous actin membrana integral component of cytoplasmic side of endoplasmic reticulum membrane cell projection ekzosoma lamellipodium integral component of membrane basal plasma membrane integral component of lumenal side of endoplasmic reticulum membrane ciliary membrane polycystin complex vijka klitinna membrana cell cell junction ciliary basal body endoplazmatichnij retikulum basal cortex mitotic spindle citoplazma motile cilium non motile cilium integral component of plasma membrane endoplasmic reticulum membrane basolateral plasma membrane cytoplasmic vesicle membrane GO 0016023 cytoplasmic vesicleBiologichnij proces regulation of calcium ion import cellular response to osmotic stress GO 1990376 negative regulation of G1 S transition of mitotic cell cycle heart looping metanephric S shaped body morphogenesis negative regulation of cell population proliferation mesonephric tubule development renal system development metanephric cortex development rozvitok nirki cytoplasmic sequestering of transcription factor ion transport metanephric ascending thin limb development branching involved in ureteric bud morphogenesis neural tube development spinal cord development metanephric distal tubule development centrosome duplication cellular calcium ion homeostasis determination of liver left right asymmetry cellular response to fluid shear stress aorta development cellular response to hydrostatic pressure metanephric mesenchyme development renal artery morphogenesis metanephric cortical collecting duct development mesonephric duct development positive regulation of cytosolic calcium ion concentration positive regulation of nitric oxide biosynthetic process GO 0072353 cellular response to reactive oxygen species GO 1901313 positive regulation of gene expression metanephric part of ureteric bud development regulation of cell population proliferation metanephric smooth muscle tissue development positive regulation of inositol 1 4 5 trisphosphate sensitive calcium release channel activity GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II heart development receptor signaling pathway via JAK STAT detection of mechanical stimulus embryonic placenta development detection of nodal flow liver development placenta blood vessel development renal tubule morphogenesis determination of left right symmetry regulation of postsynaptic membrane potential negative regulation of ryanodine sensitive calcium release channel activity calcium ion transport release of sequestered calcium ion into cytosol calcium ion transmembrane transport cellular response to calcium ion sodium ion transmembrane transport protein homotetramerization cellular response to cAMP potassium ion transmembrane transport potassium ion transport regulation of ion transmembrane transport GO 0015915 transportDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez5311 18764Ensembl ENSG00000118762 ENSMUSG00000034462UniProt Q13563 O35245RefSeq mRNK NM 000297NM 008861RefSeq bilok NP 000288NP 032887Lokus UCSC Hr 4 88 01 88 08 MbHr 5 104 61 104 65 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQR GLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEE EEVEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHP SGRRRRREDQGPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGL WGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYGMMSSNVYYYT RMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSV SSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTRE ETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGG VIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKL HYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEH LAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIE EANRVLGPIYFTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMEL SDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGH TDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPM SSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRME HSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQ STEGMEGAGGNGSSNVHV A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do ionnih kanaliv potencialzalezhnih kanaliv fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transport ioniv transport transport kaliyu transport kalciyu polimorfizm alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom kalciyu kaliyu Lokalizovanij u klitinnij membrani membrani endoplazmatichnomu retikulumi klitinnih vidrostkah vijkah citoplazmatichnih vezikulah LiteraturaThe status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Gallagher A R Cedzich A Gretz N Somlo S Witzgall R 2000 The polycystic kidney disease protein PKD2 interacts with Hax 1 a protein associated with the actin cytoskeleton Proc Natl Acad Sci U S A 97 4017 4022 PMID 10760273 DOI 10 1073 pnas 97 8 4017 Stayner C Zhou J 2001 Polycystin channels and kidney disease Trends Pharmacol Sci 22 543 546 PMID 11698076 DOI 10 1016 S0165 6147 00 01832 0 Streets A J Moon D J Kane M E Obara T Ong A C 2006 Identification of an N terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin 2 in vivo and in vitro Hum Mol Genet 15 1465 1473 PMID 16551655 DOI 10 1093 hmg ddl070 Streets A J Needham A J Gill S K Ong A C 2010 Protein kinase D mediated phosphorylation of polycystin 2 TRPP2 is essential for its effects on cell growth and calcium channel activity Mol Biol Cell 21 3853 3865 PMID 20881056 DOI 10 1091 mbc E10 04 0377 del Rocio Cantero M Velazquez I F Streets A J Ong A C M Cantiello H F 2015 The cAMP Signaling Pathway and Direct Protein Kinase A Phosphorylation Regulate Polycystin 2 TRPP2 Channel Function J Biol Chem 290 23888 23896 PMID 26269590 DOI 10 1074 jbc M115 661082PrimitkiZahvoryuvannya genetichno pov yazani z PKD2 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 27 bereznya 2016 Procitovano 30 serpnya 2017 angl Arhiv originalu za 25 veresnya 2017 Procitovano 30 serpnya 2017 Div takozhHromosoma 4 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi