• Gene id: 5311

Gene Summary

• Gene Symbol: PKD2   Gene   UCSC   Ensembl
• Aliases: APKD2, PC2, PKD4, Pc-2, TRPP2
• Gene name: polycystin 2, transient receptor potential cation channel
• Alternate names: polycystin-2, autosomal dominant polycystic kidney disease type II protein, polycystic kidney disease 2 (autosomal dominant), transient receptor potential cation channel subfamily P member 2,
• Gene location: 4q22.1 (88007634: 88077778)     Exons: 16     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. T
• OMIM: 173910

Protein Summary

• Protein general information: Q13563  
  • Name: Polycystin 2 (PC2) (Autosomal dominant polycystic kidney disease type II protein) (Polycystic kidney disease 2 protein) (Polycystwin) (R48321) (Transient receptor potential cation channel subfamily P member 2)
  • Length: 968  
  • Mass: 109691
  • Tissue specificity: Detected in fetal and adult kidney (PubMed
• Sequence:

  MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIRQAAARDPPAGAAASP
  SPPLSSCSRQAWSRDNPGFEAEEEEEEVEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHP
  SGRRRRREDQGPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLRELV
  TYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ
  TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLN
  GSSHWGIIATYSGAGYYLDLSRTREETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGG
  VIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVLSVVAIGIN
  IYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF
  AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNM
  FLAIINDTYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGH
  TDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSR
  RRGSISSGVSYEEFQVLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI
  HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV

• Structural information:
  • Protein Domains: (750..78-)
    (/note="EF-hand-)
    ECO:0000269|PubMed:24990821" (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448,-ECO:0000269|PubMed:18694932,)
  • Interpro: IPR011992  IPR002048  IPR013122  IPR003915  IPR027359  
  • Prosite: PS50222
  • PDB: 2KLD 2KLE 2KQ6 2Y4Q 3HRN 3HRO 5K47 5MKE 5MKF 5T4D 6A70 6D1W 6T9N 6T9O
  • PDBsum: 2KLD 2KLE 2KQ6 2Y4Q 3HRN 3HRO 5K47 5MKE 5MKF 5T4D 6A70 6D1W 6T9N 6T9O
  • DIP: 47455
  • STRING: ENSP00000237596
• Other Databases: GeneCards:  PKD2  Malacards:  PKD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005267	potassium channel activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005267	potassium channel activity	IDA	molecular function
GO:0198738	cell-cell signaling by wnt	IDA	biological process
GO:0005262	calcium channel activity	IDA	contributes to
GO:0034703	cation channel complex	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0051262	protein tetramerization	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0051290	protein heterotetramerization	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IMP	biological process
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0071320	cellular response to cAMP	IMP	biological process
GO:0005261	cation channel activity	IMP	molecular function
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0005248	voltage-gated sodium channel activity	IMP	molecular function
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0071805	potassium ion transmembrane transport	IMP	biological process
GO:0015271	outward rectifier potassium channel activity	ISS	molecular function
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0098662	inorganic cation transmembrane transport	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0044782	cilium organization	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097730	non-motile cilium	IEA	cellular component
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0061333	renal tubule morphogenesis	IEA	biological process
GO:0060674	placenta blood vessel development	IEA	biological process
GO:0050982	detection of mechanical stimulus	IEA	biological process
GO:0045180	basal cortex	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0015267	channel activity	IEA	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007259	receptor signaling pathway via JAK-STAT	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0003127	detection of nodal flow	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0051393	alpha-actinin binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0072686	mitotic spindle	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071498	cellular response to fluid shear stress	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity	IEA	biological process
GO:0060170	ciliary membrane	IEA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051117	ATPase binding	IEA	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0015271	outward rectifier potassium channel activity	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0002133	polycystin complex	IEA	cellular component
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0051371	muscle alpha-actinin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0008092	cytoskeletal protein binding	IDA	molecular function
GO:0022843	voltage-gated cation channel activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042805	actinin binding	IDA	molecular function
GO:0005267	potassium channel activity	ISS	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0048763	calcium-induced calcium release activity	IDA	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0043398	HLH domain binding	IPI	molecular function
GO:0051117	ATPase binding	ISS	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0045180	basal cortex	IDA	cellular component
GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane	IDA	cellular component
GO:0071470	cellular response to osmotic stress	IDA	biological process
GO:0090279	regulation of calcium ion import	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0031941	filamentous actin	IDA	colocalizes with
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IDA	biological process
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0071464	cellular response to hydrostatic pressure	IDA	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0001947	heart looping	IMP	biological process
GO:0003127	detection of nodal flow	ISS	biological process
GO:0005783	endoplasmic reticulum	IMP	cellular component
GO:0005911	cell-cell junction	ISS	colocalizes with
GO:0006816	calcium ion transport	ISS	biological process
GO:0007050	cell cycle arrest	ISS	biological process
GO:0007259	receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	NAS	biological process
GO:0097730	non-motile cilium	ISS	cellular component
GO:0031587	positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IMP	biological process
GO:0034614	cellular response to reactive oxygen species	NAS	biological process
GO:0042127	regulation of cell population proliferation	IMP	biological process
GO:0050982	detection of mechanical stimulus	ISS	biological process
GO:0051298	centrosome duplication	NAS	biological process
GO:0060674	placenta blood vessel development	ISS	biological process
GO:0061333	renal tubule morphogenesis	ISS	biological process
GO:0071910	determination of liver left/right asymmetry	IMP	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IMP	biological process
GO:0001892	embryonic placenta development	ISS	biological process
GO:0002133	polycystin complex	ISS	cellular component
GO:0005737	cytoplasm	IMP	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0031514	motile cilium	ISS	cellular component
GO:0045737	positive regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	IMP	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IMP	biological process
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity	ISS	biological process
GO:0071158	positive regulation of cell cycle arrest	IMP	biological process
GO:0071498	cellular response to fluid shear stress	IMP	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0072219	metanephric cortical collecting duct development	IEP	biological process
GO:0021915	neural tube development	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051219	phosphoprotein binding	IPI	molecular function
GO:0035904	aorta development	IEP	biological process
GO:0035502	metanephric part of ureteric bud development	IEP	biological process
GO:0007507	heart development	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001658	branching involved in ureteric bud morphogenesis	IEP	biological process
GO:0072284	metanephric S-shaped body morphogenesis	IEP	biological process
GO:0072218	metanephric ascending thin limb development	IEP	biological process
GO:0072214	metanephric cortex development	IEP	biological process
GO:0021510	spinal cord development	IEP	biological process
GO:0072235	metanephric distal tubule development	IEP	biological process
GO:0072208	metanephric smooth muscle tissue development	IEP	biological process
GO:0072177	mesonephric duct development	IEP	biological process
GO:0072164	mesonephric tubule development	IEP	biological process
GO:0072075	metanephric mesenchyme development	IEP	biological process
GO:0061441	renal artery morphogenesis	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001889	liver development	IEP	biological process

Diseases

Associated diseases	References
Polycystic kidney disease	KEGG:H00542
Potter syndrome	KEGG:H01728
Polycystic kidney disease	KEGG:H00542
Potter syndrome	KEGG:H01728
Polycystic kidney disease	PMID:16943309
Intracranial aneurysm	PMID:12842373
Retinal degeneration	PMID:16943309
autosomal dominant polycystic kidney disease	PMID:21115670
autosomal dominant polycystic kidney disease	PMID:22863349
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)