Polycystin 2

PKD2

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2KLD, 2KLE, 2KQ6, 2Y4Q, 3HRN, 3HRO

Identifiers

Aliases

PKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel

External IDs

MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2

Gene ontology
Molecular function	• ion channel binding • cytoskeletal protein binding • receptor binding • muscle alpha-actinin binding • metal ion binding • HLH domain binding • voltage-gated cation channel activity • protein homodimerization activity • calcium-induced calcium release activity • channel activity • protein binding • voltage-gated sodium channel activity • actinin binding • voltage-gated calcium channel activity • calcium channel activity • voltage-gated ion channel activity • phosphoprotein binding • alpha-actinin binding • identical protein binding • ATPase binding • calcium ion binding • potassium channel activity
Cellular component	• filamentous actin • membrane • integral component of cytoplasmic side of endoplasmic reticulum membrane • cell projection • extracellular exosome • lamellipodium • integral component of membrane • basal plasma membrane • integral component of lumenal side of endoplasmic reticulum membrane • endoplasmic reticulum membrane • integral component of plasma membrane • ciliary membrane • motile primary cilium • polycystin complex • cilium • plasma membrane • cell-cell junction • ciliary basal body • endoplasmic reticulum • basal cortex • mitotic spindle • nonmotile primary cilium • cytoplasm
Biological process	• positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle • regulation of calcium ion import • cellular response to osmotic stress • negative regulation of G1/S transition of mitotic cell cycle • heart looping • metanephric S-shaped body morphogenesis • negative regulation of cell proliferation • mesonephric tubule development • renal system development • metanephric cortex development • kidney development • cytoplasmic sequestering of transcription factor • ion transport • metanephric ascending thin limb development • branching involved in ureteric bud morphogenesis • calcium ion transmembrane transport • 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 • transport • cellular response to hydrostatic pressure • metanephric mesenchyme development • renal artery morphogenesis • metanephric cortical collecting duct development • sodium ion transmembrane transport • mesonephric duct development • positive regulation of cytosolic calcium ion concentration • positive regulation of nitric oxide biosynthetic process • cellular response to reactive oxygen species • positive regulation of gene expression • metanephric part of ureteric bud development • regulation of cell proliferation • metanephric smooth muscle tissue development • potassium ion transmembrane transport • positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity • positive regulation of transcription from RNA polymerase II promoter • positive regulation of cell cycle arrest • heart development • JAK-STAT cascade • detection of mechanical stimulus • embryonic placenta development • detection of nodal flow • liver development • cell cycle arrest • regulation of cAMP metabolic process • 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
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


5311


18764

Ensembl


ENSG00000118762


ENSMUSG00000034462

UniProt


Q13563


O35245

RefSeq (mRNA)


NM_000297


NM_008861

RefSeq (protein)


NP_000288.1


NP_032887.3

Location (UCSC)

Chr 4: 88.01 – 88.08 Mb

Chr 5: 104.46 – 104.51 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.^[3]^[4]

This gene encodes a member of the polycystin protein family, called TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. This protein interacts with polycystin 1(TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.^[4]

Interactions

Polycystic kidney disease 2 has been shown to interact with TRPC1,^[5] PKD1^[5]^[6] and TNNI3.^[7]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (Mar 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.
1 2 "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
1 2 Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (Mar 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. 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 (Jun 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. 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.

External links

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.

Islam, Md. Shahidul (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. 704. Berlin: Springer. p. 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.
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.
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". 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. doi:10.1126/science.272.5266.1339. PMID 8650545.
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.
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. 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.
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.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3

Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ

Proton-gated	Amiloride-sensitive cation channel 1 2 3 4

Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1

Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1

Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18

Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker gene

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B

H⁺: Proton channel	HVCN1

M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4

M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6

H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family

Cytoplasm: Gap junction	Connexin: A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4) Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

Ciliary proteins

Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L

Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1

Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67

Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1

Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B

Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3

see also: ciliopathy

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Polycystin 2

Clinical significance

Interactions

See also

References

External links

Further reading