Polycystin 2

PKD2
Available structures PDB 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	OMIM: 173910; MGI: 1099818; HomoloGene: 20104; GeneCards: PKD2; OMA:PKD2 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q22.1 Start 88,007,635 bp [1] End 88,077,777 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 E5|5 50.68 cM Start 104,607,316 bp [2] End 104,653,685 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon saphenous vein renal medulla ascending aorta synovial joint Descending thoracic aorta germinal epithelium myometrium right coronary artery stromal cell of endometrium Top expressed in ciliary body iris internal carotid artery Paneth cell vestibular membrane of cochlear duct external carotid artery calvaria semi-lunar valve condyle Epithelium of choroid plexus More reference expression data BioGPS n/a
Gene ontology Molecular function transmembrane 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 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 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 vesicle Biological process 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 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 transport 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 NP_032887 Location (UCSC) Chr 4: 88.01 – 88.08 Mb Chr 5: 104.61 – 104.65 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

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

Interactions

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

See also

• HAX1
• TRPP

References

1. GRCh38: Ensembl release 89: ENSG00000118762 – Ensembl, May 2017
2. 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. "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
9. 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

• 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

• 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.