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)
End	88,077,777 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	104,653,685 bp
RNA expression pattern
	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
	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
	5311
	18764
	ENSG00000118762
	ENSMUSG00000034462
	Q13563
	O35245
	NM_000297
	NM_008861
	NP_000288
	NP_032887
	Wikidata
View/Edit Human	View/Edit Mouse

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.^[5]^[6]

Template:PBB Summary

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,^[7] PKD1^[7]^[8] and TNNI3.^[9]

References

^ ^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.
^ 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.
^ "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
^ ^a ^b 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. 96 (7). UNITED STATES: 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)
^ 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. 94 (13). UNITED STATES: 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)
^ Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. 42 (2). United States: 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

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.

Template:PBB Controls

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

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

[refGRCm38Ensembl-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.

[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. (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.

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

[pmid10097141-7] 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. 96 (7). UNITED STATES: 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

[pmid9192675-8] 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. 94 (13). UNITED STATES: 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

[pmid12525172-9] Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. 42 (2). United States: 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

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v t e 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

Polycystin 2

Interactions

See also

References

Further reading

External links