PKD2

PKD2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2KLD, 2KLE, 2KQ6, 2Y4Q, 3HRN, 3HRO
Identifikatori
Aliasi	PKD2
Vanjski ID-jevi	OMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	88,077,777 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	104,653,685 bp
Ontologija gena
Molekularna funkcija	• transmembrane transporter binding; • cytoskeletal protein binding; • signaling receptor binding; • muscle alpha-actinin binding; • vezivanje iona metala; • HLH domain binding; • voltage-gated cation channel activity; • protein homodimerization activity; • calcium-induced calcium release activity; • channel activity; • GO:0001948, GO:0016582 vezivanje za proteine; • actinin binding; • voltage-gated calcium channel activity; • calcium channel activity; • phosphoprotein binding; • alpha-actinin binding; • vezivanje identičnih proteina; • 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 activity;
Ćelijska komponenta	• filamentous actin; • membrana; • integral component of cytoplasmic side of endoplasmic reticulum membrane; • projekcija ćelije; • Egzosom; • lamellipodium; • integral component of membrane; • basal plasma membrane; • integral component of lumenal side of endoplasmic reticulum membrane; • ciliary membrane; • polycystin complex; • Treplja; • ćelijska membrana; • cell-cell junction; • ciliary basal body; • Endoplazmatski 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 citoplazmatska vezikula;
Biološki 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; • Nefrogeneza; • 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 transport;
	Izvori:Amigo / QuickGO
Ortolozi
	5311
	18764
	ENSG00000118762
	ENSMUSG00000034462
	Q13563
	O35245
	NM_000297
	NM_008861
	NP_000288
	NP_032887
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Policistin-2 jest protein koji je kod ljudi kodiran genom PKD2 sa hromosoma 4.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 968 aminokiselina, а molekulska težina 109 691 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
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

Funkcija

Ovaj gen kodira člana porodice proteina policistina, zvanog TRPP2, ranije poznatog kao policistin-2, PC2 ili APKD2. TRPP2 sadrži višestruke transmembranske domene i citoplazmatske – i C-krajeve. Protein može biti integralni membranski protein uključen u interakcije ćelija–ćelija/matriks. TRPP2 može funkcionirati u razvoju morfologiji i funkciji bubrežne cijevi i može modulirati međućelijsku homeostazu kalcija i druge puteve transdukcije signala. Ovaj protein stupa u interakciju sa policistinom 1 (TRPP1), kako bi proizveo kation-permeabilne struje. Otkrioga je Stefan Somlo na Yale University.

Proteini PKD1 i PKD2 na ćelijskoj membrani

Klinički značaj

Mutacije ovog gena su povezane sa autosomno dominantnom bolešću policistastih bubrega.^[6]

Interakcije

Pokazalo se da policistin 2 ima interakcije sa proteinima:
TRPC1,^[8]
PKD1^[8]^[9] i
TNNI3.^[10]

Također pogledajte

HAX1
TRPP

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034462 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (mart 1994). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nat Genet. 5 (4): 359–62. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.
^ ^a ^b "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
^ "UniProt, Q13563" (jezik: engleski). Pristupljeno 30. 10. 2021.
^ ^a ^b Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (mart 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141.
^ Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (juni 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 94 (13): 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675.
^ Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (Jan 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. United States. 42 (2): 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172.

Dopundska literatura

Islam, Md. Shahidul (januar 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. 704. Berlin: Springer. str. 700. ISBN 978-94-007-0264-6.
Torres VE (1998). "New insights into polycystic kidney disease and its treatment". Curr. Opin. Nephrol. Hypertens. 7 (2): 159–69. doi:10.1097/00041552-199803000-00004. PMID 9529618. S2CID 9719193.
Deltas CC (2001). "Mutations of the human polycystic kidney disease 2 (PKD2) gene". Hum. Mutat. 18 (1): 13–24. doi:10.1002/humu.1145. PMID 11438989. S2CID 11511861.
Boletta A, Germino GG (2004). "Role of polycystins in renal tubulogenesis". Trends Cell Biol. 13 (9): 484–92. doi:10.1016/S0962-8924(03)00169-7. PMID 12946628.
Cantiello HF (2004). "Regulation of calcium signaling by polycystin-2". Am. J. Physiol. Renal Physiol. 286 (6): F1012–29. doi:10.1152/ajprenal.00181.2003. PMID 15130895.
Everson GT, Taylor MR, Doctor RB (2004). "Polycystic disease of the liver". Hepatology. 40 (4): 774–82. doi:10.1002/hep.20431. PMID 15382167.
Witzgall R (2007). "TRPP2 channel regulation". Handb Exp Pharmacol. Handbook of Experimental Pharmacology. 179 (179): 363–75. doi:10.1007/978-3-540-34891-7_22. ISBN 978-3-540-34889-4. PMID 17217069.
Köttgen M (2007). "TRPP2 and autosomal dominant polycystic kidney disease" (PDF). Biochim. Biophys. Acta. 1772 (8): 836–50. doi:10.1016/j.bbadis.2007.01.003. PMID 17292589.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Mochizuki T, Wu G, Hayashi T, et al. (1996). "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein". Science. 272 (5266): 1339–42. Bibcode:1996Sci...272.1339M. doi:10.1126/science.272.5266.1339. PMID 8650545. S2CID 28192819.
Schneider MC, Rodriguez AM, Nomura H, et al. (1997). "A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2". Genomics. 38 (1): 1–4. doi:10.1006/geno.1996.0584. PMID 8954772.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Qian F, Germino FJ, Cai Y, et al. (1997). "PKD1 interacts with PKD2 through a probable coiled-coil domain". Nat. Genet. 16 (2): 179–83. doi:10.1038/ng0697-179. PMID 9171830. S2CID 32450405.
Xenophontos S, Constantinides R, Hayashi T, et al. (1997). "A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)". Hum. Mol. Genet. 6 (6): 949–52. doi:10.1093/hmg/6.6.949. PMID 9175744.
Tsiokas L, Kim E, Arnould T, et al. (1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. 94 (13): 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
Hayashi T, Mochizuki T, Reynolds DM, et al. (1997). "Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)". Genomics. 44 (1): 131–6. doi:10.1006/geno.1997.4851. PMID 9286709.
Veldhuisen B, Saris JJ, de Haij S, et al. (1997). "A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)". Am. J. Hum. Genet. 61 (3): 547–55. doi:10.1086/515497. PMC 1715954. PMID 9326320.
Viribay M, Hayashi T, Tellería D, et al. (1998). "Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene". Hum. Genet. 101 (2): 229–34. doi:10.1007/s004390050621. PMID 9402976. S2CID 22047464.
Pei Y, Wang K, Kasenda M, et al. (1998). "A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene". Kidney Int. 53 (5): 1127–32. doi:10.1046/j.1523-1755.1998.00890.x. PMID 9573526.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant
"Transient Receptor Potential Channels: TRPP1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano s originala, 4. 11. 2021. Pristupljeno 30. 10. 2021.

Šablon:Trepljasti proteini Šablon:Modulatori tranzitnih receptora potencijalnih kanala

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034462 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8298643-5] Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (mart 1994). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nat Genet. 5 (4): 359–62. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.

[entrez-6] "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".

[UniProt-7] "UniProt, Q13563" (jezik: engleski). Pristupljeno 30. 10. 2021.

[pmid10097141-8] Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (mart 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141.

[pmid9192675-9] Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (juni 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 94 (13): 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675.

[pmid12525172-10] Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (Jan 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. United States. 42 (2): 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172.

[5]

[6]

[1]

[2]

[3]

[4]

[7]

[8]

[9]

[10]