Polycystin 2: Difference between revisions

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{{PBB_Summary
{{PBB_Summary
| section_title =
| section_title =
| summary_text = This gene encodes a member of the polycystin protein family, called '''[[TRPP|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.
| summary_text = This gene encodes a member of the polycystin protein family, called '''[[TRPP|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 homeostasis]] and other [[signal transduction]] pathways. This protein interacts with [[polycystin 1]] (TRPP1) to produce [[Ion channel|cation-permeable current]]s. It was discovered by [[Stefan Somlo]] at [[Yale University]].


[[Image:PKD1PKD2 en.png|center|400px|Illustration of PKD1 and PKD2 proteins at the cell membrane]]
[[Image:PKD1PKD2 en.png|center|400px|Illustration of PKD1 and PKD2 proteins at the cell membrane]]
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==Interactions==
==Interactions==
Polycystic kidney disease 2 has been shown to [[Protein-protein interaction|interact]] with [[TRPC1]],<ref name=pmid10097141>{{cite journal |last=Tsiokas |first=L |authorlink= |author2=Arnould T |author3=Zhu C |author4=Kim E |author5=Walz G |author6=Sukhatme V P  |date=March 1999 |title=Specific association of the gene product of PKD2 with the TRPC1 channel |journal=[[PNAS|Proc. Natl. Acad. Sci. U.S.A.]] |volume=96 |issue=7 |pages=3934–9 |publisher= |location = UNITED STATES| issn = 0027-8424| pmid = 10097141 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1073/pnas.96.7.3934 |pmc=22398 }}</ref> [[PKD1]]<ref name=pmid10097141/><ref name=pmid9192675>{{cite journal |last=Tsiokas |first=L |authorlink= |author2=Kim E |author3=Arnould T |author4=Sukhatme V P |author5=Walz G  |date=June 1997 |title=Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 |journal=[[PNAS|Proc. Natl. Acad. Sci. U.S.A.]] |volume=94 |issue=13 |pages=6965–70 |publisher= |location = UNITED STATES| issn = 0027-8424| pmid = 9192675 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1073/pnas.94.13.6965 |pmc=21268 }}</ref> and [[TNNI3]].<ref name=pmid12525172>{{cite journal |last=Li |first=Qiang |authorlink= |author2=Shen Patrick Y |author3=Wu Guanqing |author4=Chen Xing-Zhen  |date=Jan 2003 |title=Polycystin-2 interacts with troponin I, an angiogenesis inhibitor |journal=Biochemistry |volume=42 |issue=2 |pages=450–7 |publisher= |location = United States| issn = 0006-2960| pmid = 12525172 |doi = 10.1021/bi0267792 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>
Polycystin 2 has been shown to [[Protein-protein interaction|interact]] with the proteins [[TRPC1]],<ref name=pmid10097141>{{cite journal |last=Tsiokas |first=L |authorlink= |author2=Arnould T |author3=Zhu C |author4=Kim E |author5=Walz G |author6=Sukhatme V P  |date=March 1999 |title=Specific association of the gene product of PKD2 with the TRPC1 channel |journal=[[PNAS|Proc. Natl. Acad. Sci. U.S.A.]] |volume=96 |issue=7 |pages=3934–9 |publisher= |location = UNITED STATES| issn = 0027-8424| pmid = 10097141 | bibcode =1999PNAS...96.3934T | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1073/pnas.96.7.3934 |pmc=22398 }}</ref> [[PKD1]]<ref name=pmid10097141/><ref name=pmid9192675>{{cite journal |last=Tsiokas |first=L |authorlink= |author2=Kim E |author3=Arnould T |author4=Sukhatme V P |author5=Walz G  |date=June 1997 |title=Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 |journal=[[PNAS|Proc. Natl. Acad. Sci. U.S.A.]] |volume=94 |issue=13 |pages=6965–70 |publisher= |location = UNITED STATES| issn = 0027-8424| pmid = 9192675 | bibcode =1997PNAS...94.6965T | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1073/pnas.94.13.6965 |pmc=21268 }}</ref> and [[TNNI3]].<ref name=pmid12525172>{{cite journal |last=Li |first=Qiang |authorlink= |author2=Shen Patrick Y |author3=Wu Guanqing |author4=Chen Xing-Zhen  |date=Jan 2003 |title=Polycystin-2 interacts with troponin I, an angiogenesis inhibitor |journal=Biochemistry |volume=42 |issue=2 |pages=450–7 |publisher= |location = United States| issn = 0006-2960| pmid = 12525172 |doi = 10.1021/bi0267792 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>


==See also==
==See also==
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*{{Cite journal  | author=Köttgen M |title=TRPP2 and autosomal dominant polycystic kidney disease |journal=Biochim. Biophys. Acta |volume=1772 |issue= 8 |pages= 836–50 |year= 2007 |pmid= 17292589 |doi= 10.1016/j.bbadis.2007.01.003 }}
*{{Cite journal  | author=Köttgen M |title=TRPP2 and autosomal dominant polycystic kidney disease |journal=Biochim. Biophys. Acta |volume=1772 |issue= 8 |pages= 836–50 |year= 2007 |pmid= 17292589 |doi= 10.1016/j.bbadis.2007.01.003 }}
*{{Cite journal  |vauthors=Andersson B, Wentland MA, Ricafrente JY, etal |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{Cite journal  |vauthors=Andersson B, Wentland MA, Ricafrente JY, etal |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{Cite journal  |vauthors=Mochizuki T, Wu G, Hayashi T, etal |title=PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein |journal=Science |volume=272 |issue= 5266 |pages= 1339–42 |year= 1996 |pmid= 8650545 |doi=10.1126/science.272.5266.1339  }}
*{{Cite journal  |vauthors=Mochizuki T, Wu G, Hayashi T, etal |title=PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein |journal=Science |volume=272 |issue= 5266 |pages= 1339–42 |year= 1996 |pmid= 8650545 |doi=10.1126/science.272.5266.1339  |bibcode=1996Sci...272.1339M }}
*{{Cite journal  |vauthors=Schneider MC, Rodriguez AM, Nomura H, etal |title=A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2 |journal=Genomics |volume=38 |issue= 1 |pages= 1–4 |year= 1997 |pmid= 8954772 |doi= 10.1006/geno.1996.0584 }}
*{{Cite journal  |vauthors=Schneider MC, Rodriguez AM, Nomura H, etal |title=A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2 |journal=Genomics |volume=38 |issue= 1 |pages= 1–4 |year= 1997 |pmid= 8954772 |doi= 10.1006/geno.1996.0584 }}
*{{Cite journal  |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-Scale Concatenation cDNA Sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=  10.1101/gr.7.4.353| pmc=139146  }}
*{{Cite journal  |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-Scale Concatenation cDNA Sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=  10.1101/gr.7.4.353| pmc=139146  }}
*{{Cite journal  |vauthors=Qian F, Germino FJ, Cai Y, etal |title=PKD1 interacts with PKD2 through a probable coiled-coil domain |journal=Nat. Genet. |volume=16 |issue= 2 |pages= 179–83 |year= 1997 |pmid= 9171830 |doi= 10.1038/ng0697-179 }}
*{{Cite journal  |vauthors=Qian F, Germino FJ, Cai Y, etal |title=PKD1 interacts with PKD2 through a probable coiled-coil domain |journal=Nat. Genet. |volume=16 |issue= 2 |pages= 179–83 |year= 1997 |pmid= 9171830 |doi= 10.1038/ng0697-179 }}
*{{Cite journal  |vauthors=Xenophontos S, Constantinides R, Hayashi T, etal |title=A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2) |journal=Hum. Mol. Genet. |volume=6 |issue= 6 |pages= 949–52 |year= 1997 |pmid= 9175744 |doi=10.1093/hmg/6.6.949  }}
*{{Cite journal  |vauthors=Xenophontos S, Constantinides R, Hayashi T, etal |title=A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2) |journal=Hum. Mol. Genet. |volume=6 |issue= 6 |pages= 949–52 |year= 1997 |pmid= 9175744 |doi=10.1093/hmg/6.6.949  }}
*{{Cite journal  |vauthors=Tsiokas L, Kim E, Arnould T, etal |title=Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 13 |pages= 6965–70 |year= 1997 |pmid= 9192675 |doi=10.1073/pnas.94.13.6965  | pmc=21268  }}
*{{Cite journal  |vauthors=Tsiokas L, Kim E, Arnould T, etal |title=Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 13 |pages= 6965–70 |year= 1997 |pmid= 9192675 |doi=10.1073/pnas.94.13.6965  | pmc=21268  |bibcode=1997PNAS...94.6965T }}
*{{Cite journal  |vauthors=Hayashi T, Mochizuki T, Reynolds DM, etal |title=Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2) |journal=Genomics |volume=44 |issue= 1 |pages= 131–6 |year= 1997 |pmid= 9286709 |doi= 10.1006/geno.1997.4851 }}
*{{Cite journal  |vauthors=Hayashi T, Mochizuki T, Reynolds DM, etal |title=Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2) |journal=Genomics |volume=44 |issue= 1 |pages= 131–6 |year= 1997 |pmid= 9286709 |doi= 10.1006/geno.1997.4851 }}
*{{Cite journal  |vauthors=Veldhuisen B, Saris JJ, de Haij S, etal |title=A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2) |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 547–55 |year= 1997 |pmid= 9326320 |doi=10.1086/515497  | pmc=1715954  }}
*{{Cite journal  |vauthors=Veldhuisen B, Saris JJ, de Haij S, etal |title=A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2) |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 547–55 |year= 1997 |pmid= 9326320 |doi=10.1086/515497  | pmc=1715954  }}
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| require_manual_inspection = no
| require_manual_inspection = no
| update_protein_box = yes
| update_protein_box = yes
| update_summary = yes
| update_summary = no
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| update_citations = yes
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Revision as of 10:21, 6 July 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.[1][2]

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 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
Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[2]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,[3] PKD1[3][4] and TNNI3.[5]

See also

References

  1. ↑ Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (March 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.
  2. ↑ 2.0 2.1 "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  3. ↑ 3.0 3.1 Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (March 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.
  4. ↑ Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (June 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.
  5. ↑ 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.

Further reading

External links



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