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Polycystin 2

January 01, 1970

Polycystin-2 (PC2)[5] is a protein that in humans is encoded by the PKD2 gene.[6][7][8]

PKD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel
External IDsOMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2
Orthologs
SpeciesHumanMouse
Entrez

5311

18764

Ensembl

ENSG00000118762

ENSMUSG00000034462

UniProt

Q13563

O35245

RefSeq (mRNA)

NM_000297

NM_008861

RefSeq (protein)

NP_000288

NP_032887

Location (UCSC)Chr 4: 88.01 – 88.08 MbChr 5: 104.61 – 104.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and 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 homeostasis 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.

Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance edit

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[8]

Interactions edit

Polycystin 2 has been shown to interact with the proteins TRPC1,[9] PKD1[9][10] and TNNI3.[11]

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118762 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034462 – Ensembl, May 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.
  5. ^ "PKD2 polycystin 2, transient receptor potential cation channel [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 16 November 2022.
  6. ^ Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (December 1993). "Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23". Genomics. 18 (3): 467–472. doi:10.1016/s0888-7543(11)80001-7. PMID 8307555.
  7. ^ Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, et al. (December 1993). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nature Genetics. 5 (4): 359–362. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.
  8. ^ a b "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  9. ^ a b Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proceedings of the National Academy of Sciences of the United States of America. 96 (7): 3934–3939. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.
  10. ^ Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proceedings of the National Academy of Sciences of the United States of America. 94 (13): 6965–6970. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
  11. ^ Li Q, Shen PY, Wu G, Chen XZ (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. 42 (2): 450–457. doi:10.1021/bi0267792. PMID 12525172.

Further reading edit

  • Islam MS (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. Vol. 704. Berlin: Springer. p. 700. ISBN 978-94-007-0264-6.
  • Torres VE (March 1998). "New insights into polycystic kidney disease and its treatment". Current Opinion in Nephrology and Hypertension. 7 (2): 159–169. doi:10.1097/00041552-199803000-00004. PMID 9529618. S2CID 9719193.
  • Deltas CC (2001). "Mutations of the human polycystic kidney disease 2 (PKD2) gene". Human Mutation. 18 (1): 13–24. doi:10.1002/humu.1145. PMID 11438989. S2CID 11511861.
  • Boletta A, Germino GG (September 2003). "Role of polycystins in renal tubulogenesis". Trends in Cell Biology. 13 (9): 484–492. doi:10.1016/S0962-8924(03)00169-7. PMID 12946628.
  • Cantiello HF (June 2004). "Regulation of calcium signaling by polycystin-2". American Journal of Physiology. Renal Physiology. 286 (6): F1012–F1029. doi:10.1152/ajprenal.00181.2003. PMID 15130895. S2CID 6715458.
  • Everson GT, Taylor MR, Doctor RB (October 2004). "Polycystic disease of the liver". Hepatology. 40 (4): 774–782. doi:10.1002/hep.20431. PMID 15382167.
  • Witzgall R (2007). "TRPP2 channel regulation". Transient Receptor Potential (TRP) Channels. Handbook of Experimental Pharmacology. Vol. 179. pp. 363–375. doi:10.1007/978-3-540-34891-7_22. ISBN 978-3-540-34889-4. PMID 17217069.
  • Köttgen M (August 2007). "TRPP2 and autosomal dominant polycystic kidney disease". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 (8): 836–850. doi:10.1016/j.bbadis.2007.01.003. PMID 17292589. S2CID 20063435.
  • Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–113. doi:10.1006/abio.1996.0138. PMID 8619474.
  • Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, et al. (May 1996). "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein". Science. 272 (5266): 1339–1342. Bibcode:1996Sci...272.1339M. doi:10.1126/science.272.5266.1339. PMID 8650545. S2CID 28192819.
  • Schneider MC, Rodriguez AM, Nomura H, Zhou J, Morton CC, Reeders ST, Weremowicz S (November 1996). "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, Muzny DM, Ding Y, Liu W, et al. (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–358. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  • Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG (June 1997). "PKD1 interacts with PKD2 through a probable coiled-coil domain". Nature Genetics. 16 (2): 179–183. doi:10.1038/ng0697-179. PMID 9171830. S2CID 32450405.
  • Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC (June 1997). "A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)". Human Molecular Genetics. 6 (6): 949–952. doi:10.1093/hmg/6.6.949. PMID 9175744.
  • Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proceedings of the National Academy of Sciences of the United States of America. 94 (13): 6965–6970. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
  • Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S (August 1997). "Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)". Genomics. 44 (1): 131–136. doi:10.1006/geno.1997.4851. PMID 9286709.
  • Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, et al. (September 1997). "A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)". American Journal of Human Genetics. 61 (3): 547–555. doi:10.1086/515497. PMC 1715954. PMID 9326320.
  • Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, et al. (December 1997). "Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene". Human Genetics. 101 (2): 229–234. doi:10.1007/s004390050621. PMID 9402976. S2CID 22047464.
  • Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, et al. (May 1998). "A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene". Kidney International. 53 (5): 1127–1132. doi:10.1046/j.1523-1755.1998.00890.x. PMID 9573526.

External links edit

  • 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.

 

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

January 01, 1970
polycystin, polycystin, protein, that, humans, encoded, pkd2, gene, pkd2available, structurespdbortholog, search, pdbe, rcsblist, codes2kld, 2kle, 2kq6, 2y4q, 3hrn, 3hroidentifiersaliasespkd2, apc2, pkd4, trpp2, polycystic, kidney, disease, polycystin, transie. Polycystin 2 PC2 5 is a protein that in humans is encoded by the PKD2 gene 6 7 8 PKD2Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2KLD 2KLE 2KQ6 2Y4Q 3HRN 3HROIdentifiersAliasesPKD2 APC2 PKD4 Pc 2 TRPP2 Polycystic kidney disease 2 polycystin 2 transient receptor potential cation channelExternal IDsOMIM 173910 MGI 1099818 HomoloGene 20104 GeneCards PKD2Gene location Human Chr Chromosome 4 human 1 Band4q22 1Start88 007 635 bp 1 End88 077 777 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 E5 5 50 68 cMStart104 607 316 bp 2 End104 653 685 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inAchilles tendonsaphenous veinrenal medullaascending aortasynovial jointgerminal epitheliummyometriumright coronary arterystromal cell of endometriumpopliteal arteryTop expressed inciliary bodyirisinternal carotid arteryPaneth cellexternal carotid arterycalvariasemi lunar valvecondylefossacumulus cellMore reference expression dataBioGPSn aGene ontologyMolecular functiontransmembrane transporter binding cytoskeletal protein binding signaling 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 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 activityCellular componentfilamentous 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 ciliary membrane polycystin complex cilium plasma membrane cell cell junction ciliary basal body endoplasmic reticulum basal cortex mitotic spindle cytoplasm motile cilium non motile cilium integral component of plasma membrane endoplasmic reticulum membrane basolateral plasma membrane cytoplasmic vesicle membrane cytoplasmic vesicleBiological processregulation 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 population 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 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 cellular response to reactive oxygen species 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 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 transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez531118764EnsemblENSG00000118762ENSMUSG00000034462UniProtQ13563O35245RefSeq mRNA NM 000297NM 008861RefSeq protein NP 000288NP 032887Location UCSC Chr 4 88 01 88 08 MbChr 5 104 61 104 65 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse The gene PKD2 also known as TRPP2 encodes a member of the polycystin protein family called TRPP and 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 homeostasis 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 Illustration of PKD1 and PKD2 proteins at the cell membrane Contents 1 Clinical significance 2 Interactions 3 See also 4 References 5 Further reading 6 External linksClinical significance editMutations in this gene have been associated with autosomal dominant polycystic kidney disease 8 Interactions editPolycystin 2 has been shown to interact with the proteins TRPC1 9 PKD1 9 10 and TNNI3 11 See also editHAX1 TRPPReferences edit a b c GRCh38 Ensembl release 89 ENSG00000118762 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000034462 Ensembl May 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 PKD2 polycystin 2 transient receptor potential cation channel Homo sapiens human Gene NCBI www ncbi nlm nih gov Retrieved 16 November 2022 Kimberling WJ Kumar S Gabow PA Kenyon JB Connolly CJ Somlo S December 1993 Autosomal dominant polycystic kidney disease localization of the second gene to chromosome 4q13 q23 Genomics 18 3 467 472 doi 10 1016 s0888 7543 11 80001 7 PMID 8307555 Peters DJ Spruit L Saris JJ Ravine D Sandkuijl LA Fossdal R et al December 1993 Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease Nature Genetics 5 4 359 362 doi 10 1038 ng1293 359 PMID 8298643 S2CID 5634589 a b Entrez Gene PKD2 polycystic kidney disease 2 autosomal dominant a b Tsiokas L Arnould T Zhu C Kim E Walz G Sukhatme VP March 1999 Specific association of the gene product of PKD2 with the TRPC1 channel Proceedings of the National Academy of Sciences of the United States of America 96 7 3934 3939 Bibcode 1999PNAS 96 3934T doi 10 1073 pnas 96 7 3934 PMC 22398 PMID 10097141 Tsiokas L Kim E Arnould T Sukhatme VP Walz G June 1997 Homo and heterodimeric interactions between the gene products of PKD1 and PKD2 Proceedings of the National Academy of Sciences of the United States of America 94 13 6965 6970 Bibcode 1997PNAS 94 6965T doi 10 1073 pnas 94 13 6965 PMC 21268 PMID 9192675 Li Q Shen PY Wu G Chen XZ January 2003 Polycystin 2 interacts with troponin I an angiogenesis inhibitor Biochemistry 42 2 450 457 doi 10 1021 bi0267792 PMID 12525172 Further reading editIslam MS January 2011 Transient Receptor Potential Channels Advances in Experimental Medicine and Biology Vol 704 Berlin Springer p 700 ISBN 978 94 007 0264 6 Torres VE March 1998 New insights into polycystic kidney disease and its treatment Current Opinion in Nephrology and Hypertension 7 2 159 169 doi 10 1097 00041552 199803000 00004 PMID 9529618 S2CID 9719193 Deltas CC 2001 Mutations of the human polycystic kidney disease 2 PKD2 gene Human Mutation 18 1 13 24 doi 10 1002 humu 1145 PMID 11438989 S2CID 11511861 Boletta A Germino GG September 2003 Role of polycystins in renal tubulogenesis Trends in Cell Biology 13 9 484 492 doi 10 1016 S0962 8924 03 00169 7 PMID 12946628 Cantiello HF June 2004 Regulation of calcium signaling by polycystin 2 American Journal of Physiology Renal Physiology 286 6 F1012 F1029 doi 10 1152 ajprenal 00181 2003 PMID 15130895 S2CID 6715458 Everson GT Taylor MR Doctor RB October 2004 Polycystic disease of the liver Hepatology 40 4 774 782 doi 10 1002 hep 20431 PMID 15382167 Witzgall R 2007 TRPP2 channel regulation Transient Receptor Potential TRP Channels Handbook of Experimental Pharmacology Vol 179 pp 363 375 doi 10 1007 978 3 540 34891 7 22 ISBN 978 3 540 34889 4 PMID 17217069 Kottgen M August 2007 TRPP2 and autosomal dominant polycystic kidney disease Biochimica et Biophysica Acta BBA Molecular Basis of Disease 1772 8 836 850 doi 10 1016 j bbadis 2007 01 003 PMID 17292589 S2CID 20063435 Andersson B Wentland MA Ricafrente JY Liu W Gibbs RA April 1996 A double adaptor method for improved shotgun library construction Analytical Biochemistry 236 1 107 113 doi 10 1006 abio 1996 0138 PMID 8619474 Mochizuki T Wu G Hayashi T Xenophontos SL Veldhuisen B Saris JJ et al May 1996 PKD2 a gene for polycystic kidney disease that encodes an integral membrane protein Science 272 5266 1339 1342 Bibcode 1996Sci 272 1339M doi 10 1126 science 272 5266 1339 PMID 8650545 S2CID 28192819 Schneider MC Rodriguez AM Nomura H Zhou J Morton CC Reeders ST Weremowicz S November 1996 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 Muzny DM Ding Y Liu W et al April 1997 Large scale concatenation cDNA sequencing Genome Research 7 4 353 358 doi 10 1101 gr 7 4 353 PMC 139146 PMID 9110174 Qian F Germino FJ Cai Y Zhang X Somlo S Germino GG June 1997 PKD1 interacts with PKD2 through a probable coiled coil domain Nature Genetics 16 2 179 183 doi 10 1038 ng0697 179 PMID 9171830 S2CID 32450405 Xenophontos S Constantinides R Hayashi T Mochizuki T Somlo S Pierides A Deltas CC June 1997 A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene PDK2 Human Molecular Genetics 6 6 949 952 doi 10 1093 hmg 6 6 949 PMID 9175744 Tsiokas L Kim E Arnould T Sukhatme VP Walz G June 1997 Homo and heterodimeric interactions between the gene products of PKD1 and PKD2 Proceedings of the National Academy of Sciences of the United States of America 94 13 6965 6970 Bibcode 1997PNAS 94 6965T doi 10 1073 pnas 94 13 6965 PMC 21268 PMID 9192675 Hayashi T Mochizuki T Reynolds DM Wu G Cai Y Somlo S August 1997 Characterization of the exon structure of the polycystic kidney disease 2 gene PKD2 Genomics 44 1 131 136 doi 10 1006 geno 1997 4851 PMID 9286709 Veldhuisen B Saris JJ de Haij S Hayashi T Reynolds DM Mochizuki T et al September 1997 A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease PKD2 American Journal of Human Genetics 61 3 547 555 doi 10 1086 515497 PMC 1715954 PMID 9326320 Viribay M Hayashi T Telleria D Mochizuki T Reynolds DM Alonso R et al December 1997 Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 PKD2 gene Human Genetics 101 2 229 234 doi 10 1007 s004390050621 PMID 9402976 S2CID 22047464 Pei Y Wang K Kasenda M Paterson AD Liang Y Huang E et al May 1998 A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 PKD2 gene Kidney International 53 5 1127 1132 doi 10 1046 j 1523 1755 1998 00890 x PMID 9573526 External links editGeneReviews 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 nbsp This article on a gene on human chromosome 4 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Polycystin 2 amp oldid 1168262199, wikipedia, wiki, book, books, library,

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