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Protein

Polycystin-2

Gene

PKD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD1L1 in cilia to facilitate flow detection in left/right patterning (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi763 – 774Add BLAST12

GO - Molecular functioni

  • actinin binding Source: BHF-UCL
  • ATPase binding Source: BHF-UCL
  • calcium-induced calcium release activity Source: BHF-UCL
  • calcium ion binding Source: BHF-UCL
  • cytoskeletal protein binding Source: BHF-UCL
  • HLH domain binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • ion channel binding Source: BHF-UCL
  • phosphoprotein binding Source: UniProtKB
  • potassium channel activity Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL
  • voltage-gated calcium channel activity Source: BHF-UCL
  • voltage-gated cation channel activity Source: BHF-UCL
  • voltage-gated ion channel activity Source: BHF-UCL
  • voltage-gated sodium channel activity Source: BHF-UCL

GO - Biological processi

  • aorta development Source: UniProtKB
  • branching involved in ureteric bud morphogenesis Source: UniProtKB
  • calcium ion transmembrane transport Source: BHF-UCL
  • calcium ion transport Source: BHF-UCL
  • cell cycle arrest Source: BHF-UCL
  • cellular response to fluid shear stress Source: BHF-UCL
  • cellular response to hydrostatic pressure Source: BHF-UCL
  • cellular response to osmotic stress Source: BHF-UCL
  • cellular response to reactive oxygen species Source: BHF-UCL
  • centrosome duplication Source: BHF-UCL
  • cytoplasmic sequestering of transcription factor Source: BHF-UCL
  • detection of mechanical stimulus Source: BHF-UCL
  • detection of nodal flow Source: BHF-UCL
  • determination of left/right symmetry Source: BHF-UCL
  • determination of liver left/right asymmetry Source: BHF-UCL
  • embryonic placenta development Source: BHF-UCL
  • heart development Source: UniProtKB
  • heart looping Source: BHF-UCL
  • JAK-STAT cascade Source: BHF-UCL
  • liver development Source: UniProtKB
  • mesonephric duct development Source: UniProtKB
  • mesonephric tubule development Source: UniProtKB
  • metanephric ascending thin limb development Source: UniProtKB
  • metanephric cortex development Source: UniProtKB
  • metanephric cortical collecting duct development Source: UniProtKB
  • metanephric distal tubule development Source: UniProtKB
  • metanephric mesenchyme development Source: UniProtKB
  • metanephric part of ureteric bud development Source: UniProtKB
  • metanephric smooth muscle tissue development Source: UniProtKB
  • metanephric S-shaped body morphogenesis Source: UniProtKB
  • negative regulation of cell proliferation Source: BHF-UCL
  • negative regulation of G1/S transition of mitotic cell cycle Source: BHF-UCL
  • negative regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
  • neural tube development Source: UniProtKB
  • placenta blood vessel development Source: BHF-UCL
  • positive regulation of cell cycle arrest Source: BHF-UCL
  • positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle Source: BHF-UCL
  • positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: BHF-UCL
  • positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • regulation of calcium ion import Source: BHF-UCL
  • regulation of cAMP metabolic process Source: BHF-UCL
  • regulation of cell proliferation Source: BHF-UCL
  • release of sequestered calcium ion into cytosol Source: BHF-UCL
  • renal artery morphogenesis Source: UniProtKB
  • renal tubule morphogenesis Source: BHF-UCL
  • sodium ion transmembrane transport Source: BHF-UCL
  • spinal cord development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000118762-MONOMER.
ReactomeiR-HSA-5620916. VxPx cargo-targeting to cilium.
SIGNORiQ13563.

Protein family/group databases

TCDBi1.A.5.2.1. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystin-2
Alternative name(s):
Autosomal dominant polycystic kidney disease type II protein
Polycystic kidney disease 2 protein
Polycystwin
R48321
Transient receptor potential cation channel subfamily P member 2Imported
Gene namesi
Name:PKD2Imported
Synonyms:TRPP2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:9009. PKD2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 223CytoplasmicSequence analysisAdd BLAST223
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 468ExtracellularSequence analysisAdd BLAST224
Transmembranei469 – 489HelicalSequence analysisAdd BLAST21
Topological domaini490 – 505CytoplasmicSequence analysisAdd BLAST16
Transmembranei506 – 526HelicalSequence analysisAdd BLAST21
Topological domaini527 – 550ExtracellularSequence analysisAdd BLAST24
Transmembranei551 – 571HelicalSequence analysisAdd BLAST21
Topological domaini572 – 598CytoplasmicSequence analysisAdd BLAST27
Transmembranei599 – 619HelicalSequence analysisAdd BLAST21
Topological domaini620 – 658ExtracellularSequence analysisAdd BLAST39
Transmembranei659 – 679HelicalSequence analysisAdd BLAST21
Topological domaini680 – 968CytoplasmicSequence analysisAdd BLAST289

GO - Cellular componenti

  • basal cortex Source: BHF-UCL
  • basal plasma membrane Source: BHF-UCL
  • cell-cell junction Source: Ensembl
  • ciliary basal body Source: MGI
  • ciliary membrane Source: UniProtKB-SubCell
  • cilium Source: BHF-UCL
  • cytoplasm Source: BHF-UCL
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: BHF-UCL
  • extracellular exosome Source: UniProtKB
  • integral component of cytoplasmic side of endoplasmic reticulum membrane Source: BHF-UCL
  • integral component of lumenal side of endoplasmic reticulum membrane Source: BHF-UCL
  • integral component of plasma membrane Source: BHF-UCL
  • lamellipodium Source: BHF-UCL
  • mitotic spindle Source: BHF-UCL
  • motile cilium Source: BHF-UCL
  • non-motile cilium Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • polycystin complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Polycystic kidney disease 2 (PKD2)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy.
See also OMIM:613095
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058822306R → Q in PKD2. 1 Publication1
Natural variantiVAR_058823322R → Q in PKD2. 1 PublicationCorresponds to variant rs145877597dbSNPEnsembl.1
Natural variantiVAR_058824322R → W in PKD2. 1 Publication1
Natural variantiVAR_011073356A → P in PKD2. 2 Publications1
Natural variantiVAR_064394384A → P in PKD2. 1 Publication1
Natural variantiVAR_009195414W → G in PKD2. 2 Publications1
Natural variantiVAR_058825420R → G in PKD2. 1 Publication1
Natural variantiVAR_011074479Missing in PKD2; somatic mutation. 1 Publication1
Natural variantiVAR_011075504 – 512Missing in PKD2; somatic mutation. 1 Publication9
Natural variantiVAR_058827511D → V in PKD2. 1 PublicationCorresponds to variant rs121918043dbSNPEnsembl.1
Natural variantiVAR_058828632C → R in PKD2. 1 Publication1
Natural variantiVAR_011076684Missing in PKD2; somatic mutation. 1 Publication1
Natural variantiVAR_058830807R → Q in PKD2. 1 PublicationCorresponds to variant rs147654263dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi771T → A: Loss of calcium-binding site; when associated with A-774. 1 Publication1
Mutagenesisi774E → A: Loss of calcium-binding site; when associated with A-771. 1 Publication1
Mutagenesisi842L → P: Loss of protein solubility. 1 Publication1
Mutagenesisi846V → E: Loss of protein solubility. 1 Publication1
Mutagenesisi849M → K: Loss of protein solubility. 1 Publication1
Mutagenesisi853I → P: Loss of protein solubility. 1 Publication1
Mutagenesisi856I → K: Loss of protein solubility. 1 Publication1
Mutagenesisi863V → E: Loss of protein solubility; when associated with K-849. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi5311.
MalaCardsiPKD2.
MIMi613095. phenotype.
OpenTargetsiENSG00000118762.
Orphaneti730. Autosomal dominant polycystic kidney disease.
PharmGKBiPA33343.

Chemistry databases

ChEMBLiCHEMBL5465.
GuidetoPHARMACOLOGYi504.

Polymorphism and mutation databases

BioMutaiPKD2.
DMDMi116242717.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001643561 – 968Polycystin-2Add BLAST968

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei137Omega-N-methylarginineBy similarity1
Glycosylationi299N-linked (GlcNAc...)Sequence analysis1
Glycosylationi305N-linked (GlcNAc...)Sequence analysis1
Glycosylationi328N-linked (GlcNAc...) (complex)1 Publication1
Glycosylationi362N-linked (GlcNAc...)Sequence analysis1
Glycosylationi375N-linked (GlcNAc...)Sequence analysis1
Modified residuei808PhosphoserineBy similarity1
Modified residuei812PhosphoserineCombined sources1
Modified residuei829PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

MaxQBiQ13563.
PaxDbiQ13563.
PeptideAtlasiQ13563.
PRIDEiQ13563.

PTM databases

iPTMnetiQ13563.
PhosphoSitePlusiQ13563.

Expressioni

Tissue specificityi

Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000118762.
CleanExiHS_PKD2.
ExpressionAtlasiQ13563. baseline and differential.
GenevisibleiQ13563. HS.

Organism-specific databases

HPAiCAB004544.
HPA015794.
HPA055297.

Interactioni

Subunit structurei

Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). Interacts with PKD1L1. PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP (PubMed:10913159). Interacts with HAX1 (PubMed:10760273). Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). Interacts (via C-terminus) with TRPV4 (via C-terminus) (PubMed:18695040).By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself8EBI-7813714,EBI-7813714
Hax1O353873EBI-7813714,EBI-642449From a different organism.
ID2Q023637EBI-7813714,EBI-713450
itpr1Q919082EBI-7813714,EBI-9633447From a different organism.
KRT40Q6A1623EBI-7813714,EBI-10171697
KRTAP10-8P604103EBI-7813714,EBI-10171774
MAGEA8P433613EBI-7813714,EBI-10182930
PKD1P981618EBI-7813714,EBI-1752013
PLSCR1O151623EBI-7813714,EBI-740019
TRPC1P489953EBI-7813714,EBI-929665
TRPC1P48995-24EBI-7813714,EBI-9830970

GO - Molecular functioni

  • actinin binding Source: BHF-UCL
  • ATPase binding Source: BHF-UCL
  • cytoskeletal protein binding Source: BHF-UCL
  • HLH domain binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • ion channel binding Source: BHF-UCL
  • phosphoprotein binding Source: UniProtKB
  • protein homodimerization activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi111328. 34 interactors.
DIPiDIP-47455N.
IntActiQ13563. 22 interactors.
MINTiMINT-6618167.
STRINGi9606.ENSP00000237596.

Chemistry databases

BindingDBiQ13563.

Structurei

Secondary structure

1968
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni730 – 734Combined sources5
Helixi738 – 744Combined sources7
Turni745 – 747Combined sources3
Helixi752 – 762Combined sources11
Beta strandi763 – 766Combined sources4
Beta strandi767 – 771Combined sources5
Helixi773 – 777Combined sources5
Turni781 – 783Combined sources3
Beta strandi793 – 795Combined sources3
Helixi836 – 894Combined sources59

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KLDNMR-A680-796[»]
2KLENMR-A680-796[»]
2KQ6NMR-A720-797[»]
2Y4QNMR-A717-792[»]
3HRNX-ray1.90A833-895[»]
3HROX-ray1.90A833-872[»]
5K47electron microscopy4.20A/B/C/D185-723[»]
ProteinModelPortaliQ13563.
SMRiQ13563.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13563.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini750 – 785EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni704 – 794EF-hand domainAdd BLAST91
Regioni803 – 822LinkerAdd BLAST20
Regioni828 – 968C-terminal coiled coil domainAdd BLAST141

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili838 – 926Sequence analysisAdd BLAST89

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi316 – 328Polycystin motifAdd BLAST13

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi95 – 107Poly-GluAdd BLAST13
Compositional biasi153 – 157Poly-Arg5

Domaini

The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1.1 Publication

Sequence similaritiesi

Belongs to the polycystin family.Curated
Contains 1 EF-hand domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3599. Eukaryota.
ENOG410XTGE. LUCA.
GeneTreeiENSGT00700000104221.
HOGENOMiHOG000230858.
HOVERGENiHBG014945.
InParanoidiQ13563.
KOiK04986.
OMAiAWSRDNP.
OrthoDBiEOG091G034F.
PhylomeDBiQ13563.
TreeFamiTF316484.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.20.120.350. 1 hit.
InterProiIPR027359. Channel_four-helix_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]
PRINTSiPR01433. POLYCYSTIN2.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13563-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVNSSRVQPQ QPGDAKRPPA PRAPDPGRLM AGCAAVGASL AAPGGLCEQR
60 70 80 90 100
GLEIEMQRIR QAAARDPPAG AAASPSPPLS SCSRQAWSRD NPGFEAEEEE
110 120 130 140 150
EEVEGEEGGM VVEMDVEWRP GSRRSAASSA VSSVGARSRG LGGYHGAGHP
160 170 180 190 200
SGRRRRREDQ GPPCPSPVGG GDPLHRHLPL EGQPPRVAWA ERLVRGLRGL
210 220 230 240 250
WGTRLMEESS TNREKYLKSV LRELVTYLLF LIVLCILTYG MMSSNVYYYT
260 270 280 290 300
RMMSQLFLDT PVSKTEKTNF KTLSSMEDFW KFTEGSLLDG LYWKMQPSNQ
310 320 330 340 350
TEADNRSFIF YENLLLGVPR IRQLRVRNGS CSIPQDLRDE IKECYDVYSV
360 370 380 390 400
SSEDRAPFGP RNGTAWIYTS EKDLNGSSHW GIIATYSGAG YYLDLSRTRE
410 420 430 440 450
ETAAQVASLK KNVWLDRGTR ATFIDFSVYN ANINLFCVVR LLVEFPATGG
460 470 480 490 500
VIPSWQFQPL KLIRYVTTFD FFLAACEIIF CFFIFYYVVE EILEIRIHKL
510 520 530 540 550
HYFRSFWNCL DVVIVVLSVV AIGINIYRTS NVEVLLQFLE DQNTFPNFEH
560 570 580 590 600
LAYWQIQFNN IAAVTVFFVW IKLFKFINFN RTMSQLSTTM SRCAKDLFGF
610 620 630 640 650
AIMFFIIFLA YAQLAYLVFG TQVDDFSTFQ ECIFTQFRII LGDINFAEIE
660 670 680 690 700
EANRVLGPIY FTTFVFFMFF ILLNMFLAII NDTYSEVKSD LAQQKAEMEL
710 720 730 740 750
SDLIRKGYHK ALVKLKLKKN TVDDISESLR QGGGKLNFDE LRQDLKGKGH
760 770 780 790 800
TDAEIEAIFT KYDQDGDQEL TEHEHQQMRD DLEKEREDLD LDHSSLPRPM
810 820 830 840 850
SSRSFPRSLD DSEEDDDEDS GHSSRRRGSI SSGVSYEEFQ VLVRRVDRME
860 870 880 890 900
HSIGSIVSKI DAVIVKLEIM ERAKLKRREV LGRLLDGVAE DERLGRDSEI
910 920 930 940 950
HREQMERLVR EELERWESDD AASQISHGLG TPVGLNGQPR PRSSRPSSSQ
960
STEGMEGAGG NGSSNVHV
Length:968
Mass (Da):109,691
Last modified:October 17, 2006 - v3
Checksum:iF8D2E760EBEA8B47
GO
Isoform 2 (identifier: Q13563-2) [UniParc]FASTAAdd to basket
Also known as: delta6

The sequence of this isoform differs from the canonical sequence as follows:
     476-483: CEIIFCFF → FICSSYGD
     484-968: Missing.

Show »
Length:483
Mass (Da):53,686
Checksum:i6F4CC2DD18EEF56F
GO
Isoform 3 (identifier: Q13563-3) [UniParc]FASTAAdd to basket
Also known as: delta7

The sequence of this isoform differs from the canonical sequence as follows:
     517-572: Missing.

Show »
Length:912
Mass (Da):103,134
Checksum:iEDD0DB1BD7750772
GO
Isoform 4 (identifier: Q13563-4) [UniParc]FASTAAdd to basket
Also known as: delta9

The sequence of this isoform differs from the canonical sequence as follows:
     633-646: IFTQFRIILGDINF → IICSWRSSMIRTLK
     647-968: Missing.

Show »
Length:646
Mass (Da):73,171
Checksum:iC3773DAF9FFDB249
GO
Isoform 5 (identifier: Q13563-5) [UniParc]FASTAAdd to basket
Also known as: delta12/13

The sequence of this isoform differs from the canonical sequence as follows:
     748-841: Missing.

Note: Minor isoform.
Show »
Length:874
Mass (Da):98,838
Checksum:i887260C960F987BE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45G → R in AAC16004 (PubMed:9286709).Curated1
Sequence conflicti449G → V in AAC50933 (PubMed:8954772).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05882024P → L.1 Publication1
Natural variantiVAR_01107228R → P Common polymorphism; possibly damaging. 5 PublicationsCorresponds to variant rs1805044dbSNPEnsembl.1
Natural variantiVAR_058821190A → T.1 PublicationCorresponds to variant rs117078377dbSNPEnsembl.1
Natural variantiVAR_058822306R → Q in PKD2. 1 Publication1
Natural variantiVAR_058823322R → Q in PKD2. 1 PublicationCorresponds to variant rs145877597dbSNPEnsembl.1
Natural variantiVAR_058824322R → W in PKD2. 1 Publication1
Natural variantiVAR_011073356A → P in PKD2. 2 Publications1
Natural variantiVAR_064394384A → P in PKD2. 1 Publication1
Natural variantiVAR_009195414W → G in PKD2. 2 Publications1
Natural variantiVAR_058825420R → G in PKD2. 1 Publication1
Natural variantiVAR_014919452I → V.Corresponds to variant rs1801612dbSNPEnsembl.1
Natural variantiVAR_011074479Missing in PKD2; somatic mutation. 1 Publication1
Natural variantiVAR_058826482F → C.1 PublicationCorresponds to variant rs75762896dbSNPEnsembl.1
Natural variantiVAR_011075504 – 512Missing in PKD2; somatic mutation. 1 Publication9
Natural variantiVAR_058827511D → V in PKD2. 1 PublicationCorresponds to variant rs121918043dbSNPEnsembl.1
Natural variantiVAR_058828632C → R in PKD2. 1 Publication1
Natural variantiVAR_011076684Missing in PKD2; somatic mutation. 1 Publication1
Natural variantiVAR_058829800M → L.1 PublicationCorresponds to variant rs2234917dbSNPEnsembl.1
Natural variantiVAR_058830807R → Q in PKD2. 1 PublicationCorresponds to variant rs147654263dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042479476 – 483CEIIFCFF → FICSSYGD in isoform 2. Curated8
Alternative sequenceiVSP_042480484 – 968Missing in isoform 2. CuratedAdd BLAST485
Alternative sequenceiVSP_042481517 – 572Missing in isoform 3. CuratedAdd BLAST56
Alternative sequenceiVSP_042482633 – 646IFTQF…GDINF → IICSWRSSMIRTLK in isoform 4. CuratedAdd BLAST14
Alternative sequenceiVSP_042483647 – 968Missing in isoform 4. CuratedAdd BLAST322
Alternative sequenceiVSP_042484748 – 841Missing in isoform 5. CuratedAdd BLAST94

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50928 mRNA. Translation: AAC50520.1.
AF004873
, AF004859, AF004860, AF004861, AF004862, AF004863, AF004864, AF004865, AF004866, AF004867, AF004868, AF004869, AF004870, AF004871, AF004872 Genomic DNA. Translation: AAC16004.1.
BC112261 mRNA. Translation: AAI12262.1.
BC112263 mRNA. Translation: AAI12264.1.
U56813 mRNA. Translation: AAC50933.1.
CCDSiCCDS3627.1. [Q13563-1]
PIRiG02640.
RefSeqiNP_000288.1. NM_000297.3. [Q13563-1]
UniGeneiHs.181272.

Genome annotation databases

EnsembliENST00000237596; ENSP00000237596; ENSG00000118762. [Q13563-1]
GeneIDi5311.
KEGGihsa:5311.
UCSCiuc003hre.4. human. [Q13563-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - Glycan Binding

Polycystin 2 - Not a C-type lectin

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50928 mRNA. Translation: AAC50520.1.
AF004873
, AF004859, AF004860, AF004861, AF004862, AF004863, AF004864, AF004865, AF004866, AF004867, AF004868, AF004869, AF004870, AF004871, AF004872 Genomic DNA. Translation: AAC16004.1.
BC112261 mRNA. Translation: AAI12262.1.
BC112263 mRNA. Translation: AAI12264.1.
U56813 mRNA. Translation: AAC50933.1.
CCDSiCCDS3627.1. [Q13563-1]
PIRiG02640.
RefSeqiNP_000288.1. NM_000297.3. [Q13563-1]
UniGeneiHs.181272.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KLDNMR-A680-796[»]
2KLENMR-A680-796[»]
2KQ6NMR-A720-797[»]
2Y4QNMR-A717-792[»]
3HRNX-ray1.90A833-895[»]
3HROX-ray1.90A833-872[»]
5K47electron microscopy4.20A/B/C/D185-723[»]
ProteinModelPortaliQ13563.
SMRiQ13563.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111328. 34 interactors.
DIPiDIP-47455N.
IntActiQ13563. 22 interactors.
MINTiMINT-6618167.
STRINGi9606.ENSP00000237596.

Chemistry databases

BindingDBiQ13563.
ChEMBLiCHEMBL5465.
GuidetoPHARMACOLOGYi504.

Protein family/group databases

TCDBi1.A.5.2.1. the polycystin cation channel (pcc) family.

PTM databases

iPTMnetiQ13563.
PhosphoSitePlusiQ13563.

Polymorphism and mutation databases

BioMutaiPKD2.
DMDMi116242717.

Proteomic databases

MaxQBiQ13563.
PaxDbiQ13563.
PeptideAtlasiQ13563.
PRIDEiQ13563.

Protocols and materials databases

DNASUi5311.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000237596; ENSP00000237596; ENSG00000118762. [Q13563-1]
GeneIDi5311.
KEGGihsa:5311.
UCSCiuc003hre.4. human. [Q13563-1]

Organism-specific databases

CTDi5311.
DisGeNETi5311.
GeneCardsiPKD2.
GeneReviewsiPKD2.
HGNCiHGNC:9009. PKD2.
HPAiCAB004544.
HPA015794.
HPA055297.
MalaCardsiPKD2.
MIMi173910. gene.
613095. phenotype.
neXtProtiNX_Q13563.
OpenTargetsiENSG00000118762.
Orphaneti730. Autosomal dominant polycystic kidney disease.
PharmGKBiPA33343.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3599. Eukaryota.
ENOG410XTGE. LUCA.
GeneTreeiENSGT00700000104221.
HOGENOMiHOG000230858.
HOVERGENiHBG014945.
InParanoidiQ13563.
KOiK04986.
OMAiAWSRDNP.
OrthoDBiEOG091G034F.
PhylomeDBiQ13563.
TreeFamiTF316484.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000118762-MONOMER.
ReactomeiR-HSA-5620916. VxPx cargo-targeting to cilium.
SIGNORiQ13563.

Miscellaneous databases

ChiTaRSiPKD2. human.
EvolutionaryTraceiQ13563.
GeneWikiiPolycystic_kidney_disease_2.
GenomeRNAii5311.
PROiQ13563.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118762.
CleanExiHS_PKD2.
ExpressionAtlasiQ13563. baseline and differential.
GenevisibleiQ13563. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.20.120.350. 1 hit.
InterProiIPR027359. Channel_four-helix_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]
PRINTSiPR01433. POLYCYSTIN2.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPKD2_HUMAN
AccessioniPrimary (citable) accession number: Q13563
Secondary accession number(s): O60441
, Q15764, Q2M1Q3, Q2M1Q5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 174 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.