Polycystin 2

Protein and coding gene in humans

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]
Band	4q22.1	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]
Band	5 E5\|5 50.68 cM	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

germinal epithelium

myometrium

right coronary artery

stromal cell of endometrium

popliteal artery

Top expressed in

ciliary body

iris

internal carotid artery

Paneth cell

external carotid artery

calvaria

semi-lunar valve

condyle

fossa

cumulus cell

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.

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]

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.
^ "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.

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.

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

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

TRP channel modulators

TRPA

Activators

4-Hydroxynonenal
4-Oxo-2-nonenal
4,5-EET
12S-HpETE
15-Deoxy-Δ^12,14-prostaglandin J2
α-Sanshool (ginger, Sichuan and melegueta peppers)
Acrolein
Allicin (garlic)
Allyl isothiocyanate (mustard, radish, horseradish, wasabi)
AM404
ASP-7663
Bradykinin
Cannabichromene (cannabis)
Cannabidiol (cannabis)
Cannabigerol (cannabis)
Cinnamaldehyde (cinnamon)
CR gas (dibenzoxazepine; DBO)
CS gas (2-chlorobenzal malononitrile)
Cuminaldehyde (cumin)
Curcumin (turmeric)
Dehydroligustilide (celery)
Diallyl disulfide
Dicentrine (Lindera spp.)
Farnesyl thiosalicylic acid
Formalin
Gingerols (ginger)
Hepoxilin A3
Hepoxilin B3
Hydrogen peroxide
Icilin
Isothiocyanate
JT-010
Ligustilide (celery, Angelica acutiloba)
Linalool (Sichuan pepper, thyme)
Methylglyoxal
Methyl salicylate (wintergreen)
N-Methylmaleimide
Nicotine (tobacco)
Oleocanthal (olive oil)
Paclitaxel (Pacific yew)
Paracetamol (acetaminophen)
PF-4840154
Phenacyl chloride
Polygodial (Dorrigo pepper)
Shogaols (ginger, Sichuan and melegueta peppers)
Tear gases
Tetrahydrocannabinol (cannabis)
Tetrahydrocannabiorcol
Thiopropanal S-oxide (onion)
Umbellulone (Umbellularia californica)
WIN 55,212-2

Blockers

TRPC

Activators	Adhyperforin (St John's wort) Diacyl glycerol GSK1702934A Hyperforin (St John's wort) Substance P
Blockers	DCDPC DHEA-S Flufenamic acid GSK417651A GSK2293017A Meclofenamic acid N-(p-Amylcinnamoyl)anthranilic acid Niflumic acid Pregnenolone sulfate Progesterone Pyr3 Tolfenamic acid