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Q13563

- PKD2_HUMAN

UniProt

Q13563 - PKD2_HUMAN

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Protein

Polycystin-2

Gene
PKD2
Organism
Homo sapiens (Human)
Status
Reviewed - 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. 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 PKD2 in cilia to facilitate flow detection in left/right patterning By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi763 – 774121 PublicationAdd
BLAST

GO - Molecular functioni

  1. actinin binding Source: BHF-UCL
  2. ATPase binding Source: BHF-UCL
  3. calcium-induced calcium release activity Source: BHF-UCL
  4. calcium ion binding Source: BHF-UCL
  5. cytoskeletal protein binding Source: BHF-UCL
  6. HLH domain binding Source: BHF-UCL
  7. identical protein binding Source: IntAct
  8. ion channel binding Source: BHF-UCL
  9. phosphoprotein binding Source: UniProt
  10. potassium channel activity Source: BHF-UCL
  11. protein binding Source: UniProtKB
  12. protein homodimerization activity Source: BHF-UCL
  13. receptor binding Source: BHF-UCL
  14. voltage-gated calcium channel activity Source: BHF-UCL
  15. voltage-gated cation channel activity Source: BHF-UCL
  16. voltage-gated ion channel activity Source: BHF-UCL
  17. voltage-gated sodium channel activity Source: BHF-UCL

GO - Biological processi

  1. aorta development Source: UniProtKB
  2. branching involved in ureteric bud morphogenesis Source: UniProtKB
  3. calcium ion transmembrane transport Source: BHF-UCL
  4. calcium ion transport Source: BHF-UCL
  5. cell cycle arrest Source: BHF-UCL
  6. cellular response to fluid shear stress Source: BHF-UCL
  7. cellular response to hydrostatic pressure Source: BHF-UCL
  8. cellular response to osmotic stress Source: BHF-UCL
  9. cellular response to reactive oxygen species Source: BHF-UCL
  10. centrosome duplication Source: BHF-UCL
  11. cytoplasmic sequestering of transcription factor Source: BHF-UCL
  12. detection of mechanical stimulus Source: BHF-UCL
  13. detection of nodal flow Source: BHF-UCL
  14. determination of left/right symmetry Source: BHF-UCL
  15. determination of liver left/right asymmetry Source: BHF-UCL
  16. embryonic placenta development Source: BHF-UCL
  17. heart development Source: UniProtKB
  18. heart looping Source: BHF-UCL
  19. JAK-STAT cascade Source: BHF-UCL
  20. liver development Source: UniProtKB
  21. mesonephric duct development Source: UniProtKB
  22. mesonephric tubule development Source: UniProtKB
  23. metanephric ascending thin limb development Source: UniProtKB
  24. metanephric cortex development Source: UniProtKB
  25. metanephric cortical collecting duct development Source: UniProtKB
  26. metanephric distal tubule development Source: UniProtKB
  27. metanephric mesenchyme development Source: UniProtKB
  28. metanephric part of ureteric bud development Source: UniProtKB
  29. metanephric smooth muscle tissue development Source: UniProtKB
  30. metanephric S-shaped body morphogenesis Source: UniProtKB
  31. negative regulation of cell proliferation Source: BHF-UCL
  32. negative regulation of G1/S transition of mitotic cell cycle Source: BHF-UCL
  33. negative regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
  34. neural tube development Source: UniProtKB
  35. placenta blood vessel development Source: BHF-UCL
  36. positive regulation of cell cycle arrest Source: BHF-UCL
  37. positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle Source: BHF-UCL
  38. positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: BHF-UCL
  39. positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
  40. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  41. regulation of calcium ion import Source: BHF-UCL
  42. regulation of cAMP metabolic process Source: BHF-UCL
  43. regulation of cell proliferation Source: BHF-UCL
  44. release of sequestered calcium ion into cytosol Source: BHF-UCL
  45. renal artery morphogenesis Source: UniProtKB
  46. renal tubule morphogenesis Source: BHF-UCL
  47. sodium ion transmembrane transport Source: BHF-UCL
  48. spinal cord development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

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
Gene namesi
Name:PKD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:9009. PKD2.

Subcellular locationi

Cell projectioncilium membrane; Multi-pass membrane protein By similarity. Endoplasmic reticulum By similarity 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 223223Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei224 – 24421Helical; Reviewed predictionAdd
BLAST
Topological domaini245 – 468224Extracellular Reviewed predictionAdd
BLAST
Transmembranei469 – 48921Helical; Reviewed predictionAdd
BLAST
Topological domaini490 – 50516Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei506 – 52621Helical; Reviewed predictionAdd
BLAST
Topological domaini527 – 55024Extracellular Reviewed predictionAdd
BLAST
Transmembranei551 – 57121Helical; Reviewed predictionAdd
BLAST
Topological domaini572 – 59827Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei599 – 61921Helical; Reviewed predictionAdd
BLAST
Topological domaini620 – 65839Extracellular Reviewed predictionAdd
BLAST
Transmembranei659 – 67921Helical; Reviewed predictionAdd
BLAST
Topological domaini680 – 968289Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. basal cortex Source: BHF-UCL
  2. basal plasma membrane Source: BHF-UCL
  3. cell-cell junction Source: Ensembl
  4. ciliary basal body Source: MGI
  5. ciliary membrane Source: UniProtKB-SubCell
  6. cilium Source: BHF-UCL
  7. cytoplasm Source: BHF-UCL
  8. endoplasmic reticulum Source: BHF-UCL
  9. endoplasmic reticulum membrane Source: BHF-UCL
  10. extracellular vesicular exosome Source: UniProt
  11. integral component of cytoplasmic side of endoplasmic reticulum membrane Source: BHF-UCL
  12. integral component of lumenal side of endoplasmic reticulum membrane Source: BHF-UCL
  13. integral component of plasma membrane Source: BHF-UCL
  14. lamellipodium Source: BHF-UCL
  15. mitotic spindle Source: BHF-UCL
  16. motile primary cilium Source: BHF-UCL
  17. nonmotile primary cilium Source: BHF-UCL
  18. plasma membrane Source: BHF-UCL
  19. 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) [MIM:613095]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti306 – 3061R → Q in PKD2. 1 Publication
VAR_058822
Natural varianti322 – 3221R → Q in PKD2. 1 Publication
VAR_058823
Natural varianti322 – 3221R → W in PKD2. 1 Publication
VAR_058824
Natural varianti356 – 3561A → P in PKD2. 2 Publications
VAR_011073
Natural varianti384 – 3841A → P in PKD2. 1 Publication
VAR_064394
Natural varianti414 – 4141W → G in PKD2. 2 Publications
VAR_009195
Natural varianti420 – 4201R → G in PKD2. 1 Publication
VAR_058825
Natural varianti479 – 4791Missing in PKD2; somatic mutation. 1 Publication
VAR_011074
Natural varianti504 – 5129Missing in PKD2; somatic mutation.
VAR_011075
Natural varianti511 – 5111D → V in PKD2. 1 Publication
VAR_058827
Natural varianti632 – 6321C → R in PKD2. 1 Publication
VAR_058828
Natural varianti684 – 6841Missing in PKD2; somatic mutation. 1 Publication
VAR_011076
Natural varianti807 – 8071R → Q in PKD2. 1 Publication
Corresponds to variant rs147654263 [ dbSNP | Ensembl ].
VAR_058830

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi771 – 7711T → A: Loss of calcium-binding site; when associated with A-774. 1 Publication
Mutagenesisi774 – 7741E → A: Loss of calcium-binding site; when associated with A-771. 1 Publication
Mutagenesisi842 – 8421L → P: Loss of protein solubility. 1 Publication
Mutagenesisi846 – 8461V → E: Loss of protein solubility. 1 Publication
Mutagenesisi849 – 8491M → K: Loss of protein solubility. 1 Publication
Mutagenesisi853 – 8531I → P: Loss of protein solubility. 1 Publication
Mutagenesisi856 – 8561I → K: Loss of protein solubility. 1 Publication
Mutagenesisi863 – 8631V → E: Loss of protein solubility; when associated with K-849. 1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MIMi613095. phenotype.
Orphaneti730. Autosomal dominant polycystic kidney disease.
PharmGKBiPA33343.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 968968Polycystin-2PRO_0000164356Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi299 – 2991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi305 – 3051N-linked (GlcNAc...) Reviewed prediction
Glycosylationi328 – 3281N-linked (GlcNAc...) (complex)1 Publication
Glycosylationi362 – 3621N-linked (GlcNAc...) Reviewed prediction
Glycosylationi375 – 3751N-linked (GlcNAc...) Reviewed prediction
Modified residuei812 – 8121Phosphoserine1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ13563.
PaxDbiQ13563.
PeptideAtlasiQ13563.
PRIDEiQ13563.

PTM databases

PhosphoSiteiQ13563.

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

ArrayExpressiQ13563.
BgeeiQ13563.
CleanExiHS_PKD2.
GenevestigatoriQ13563.

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. Interacts with HAX1. Interacts with NEK8 By similarity. Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C By similarity.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself8EBI-7813714,EBI-7813714
PKD1P981617EBI-7813714,EBI-1752013

Protein-protein interaction databases

BioGridi111328. 8 interactions.
DIPiDIP-47455N.
IntActiQ13563. 3 interactions.
MINTiMINT-6618167.
STRINGi9606.ENSP00000237596.

Structurei

Secondary structure

1
968
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni730 – 7345
Helixi738 – 7447
Turni745 – 7473
Helixi752 – 76211
Beta strandi763 – 7664
Beta strandi767 – 7715
Helixi773 – 7775
Turni781 – 7833
Beta strandi793 – 7953
Helixi836 – 89459

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KLDNMR-A680-796[»]
2KLENMR-A680-796[»]
2KQ6NMR-A720-797[»]
2Y4QNMR-A717-792[»]
3HRNX-ray1.90A833-895[»]
3HROX-ray1.90A833-872[»]
ProteinModelPortaliQ13563.
SMRiQ13563. Positions 720-797, 833-895.

Miscellaneous databases

EvolutionaryTraceiQ13563.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini750 – 78536EF-handAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni704 – 79491EF-hand domainAdd
BLAST
Regioni803 – 82220LinkerAdd
BLAST
Regioni828 – 968141C-terminal coiled coil domainAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili838 – 92689 Reviewed predictionAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi316 – 32813Polycystin motifAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi95 – 10713Poly-GluAdd
BLAST
Compositional biasi153 – 1575Poly-Arg

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.
Contains 1 EF-hand domain.

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG325704.
HOGENOMiHOG000230858.
HOVERGENiHBG014945.
InParanoidiQ13563.
KOiK04986.
OMAiAWSRDNP.
OrthoDBiEOG7N8ZTW.
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.
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

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

MVNSSRVQPQ QPGDAKRPPA PRAPDPGRLM AGCAAVGASL AAPGGLCEQR    50
GLEIEMQRIR QAAARDPPAG AAASPSPPLS SCSRQAWSRD NPGFEAEEEE 100
EEVEGEEGGM VVEMDVEWRP GSRRSAASSA VSSVGARSRG LGGYHGAGHP 150
SGRRRRREDQ GPPCPSPVGG GDPLHRHLPL EGQPPRVAWA ERLVRGLRGL 200
WGTRLMEESS TNREKYLKSV LRELVTYLLF LIVLCILTYG MMSSNVYYYT 250
RMMSQLFLDT PVSKTEKTNF KTLSSMEDFW KFTEGSLLDG LYWKMQPSNQ 300
TEADNRSFIF YENLLLGVPR IRQLRVRNGS CSIPQDLRDE IKECYDVYSV 350
SSEDRAPFGP RNGTAWIYTS EKDLNGSSHW GIIATYSGAG YYLDLSRTRE 400
ETAAQVASLK KNVWLDRGTR ATFIDFSVYN ANINLFCVVR LLVEFPATGG 450
VIPSWQFQPL KLIRYVTTFD FFLAACEIIF CFFIFYYVVE EILEIRIHKL 500
HYFRSFWNCL DVVIVVLSVV AIGINIYRTS NVEVLLQFLE DQNTFPNFEH 550
LAYWQIQFNN IAAVTVFFVW IKLFKFINFN RTMSQLSTTM SRCAKDLFGF 600
AIMFFIIFLA YAQLAYLVFG TQVDDFSTFQ ECIFTQFRII LGDINFAEIE 650
EANRVLGPIY FTTFVFFMFF ILLNMFLAII NDTYSEVKSD LAQQKAEMEL 700
SDLIRKGYHK ALVKLKLKKN TVDDISESLR QGGGKLNFDE LRQDLKGKGH 750
TDAEIEAIFT KYDQDGDQEL TEHEHQQMRD DLEKEREDLD LDHSSLPRPM 800
SSRSFPRSLD DSEEDDDEDS GHSSRRRGSI SSGVSYEEFQ VLVRRVDRME 850
HSIGSIVSKI DAVIVKLEIM ERAKLKRREV LGRLLDGVAE DERLGRDSEI 900
HREQMERLVR EELERWESDD AASQISHGLG TPVGLNGQPR PRSSRPSSSQ 950
STEGMEGAGG NGSSNVHV 968
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241P → L.1 Publication
VAR_058820
Natural varianti28 – 281R → P Common polymorphism; possibly damaging. 5 Publications
Corresponds to variant rs1805044 [ dbSNP | Ensembl ].
VAR_011072
Natural varianti190 – 1901A → T.1 Publication
Corresponds to variant rs117078377 [ dbSNP | Ensembl ].
VAR_058821
Natural varianti306 – 3061R → Q in PKD2. 1 Publication
VAR_058822
Natural varianti322 – 3221R → Q in PKD2. 1 Publication
VAR_058823
Natural varianti322 – 3221R → W in PKD2. 1 Publication
VAR_058824
Natural varianti356 – 3561A → P in PKD2. 2 Publications
VAR_011073
Natural varianti384 – 3841A → P in PKD2. 1 Publication
VAR_064394
Natural varianti414 – 4141W → G in PKD2. 2 Publications
VAR_009195
Natural varianti420 – 4201R → G in PKD2. 1 Publication
VAR_058825
Natural varianti452 – 4521I → V.
Corresponds to variant rs1801612 [ dbSNP | Ensembl ].
VAR_014919
Natural varianti479 – 4791Missing in PKD2; somatic mutation. 1 Publication
VAR_011074
Natural varianti482 – 4821F → C.1 Publication
Corresponds to variant rs75762896 [ dbSNP | Ensembl ].
VAR_058826
Natural varianti504 – 5129Missing in PKD2; somatic mutation.
VAR_011075
Natural varianti511 – 5111D → V in PKD2. 1 Publication
VAR_058827
Natural varianti632 – 6321C → R in PKD2. 1 Publication
VAR_058828
Natural varianti684 – 6841Missing in PKD2; somatic mutation. 1 Publication
VAR_011076
Natural varianti800 – 8001M → L.1 Publication
Corresponds to variant rs2234917 [ dbSNP | Ensembl ].
VAR_058829
Natural varianti807 – 8071R → Q in PKD2. 1 Publication
Corresponds to variant rs147654263 [ dbSNP | Ensembl ].
VAR_058830

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei476 – 4838CEIIFCFF → FICSSYGD in isoform 2. VSP_042479
Alternative sequencei484 – 968485Missing in isoform 2. VSP_042480Add
BLAST
Alternative sequencei517 – 57256Missing in isoform 3. VSP_042481Add
BLAST
Alternative sequencei633 – 64614IFTQF…GDINF → IICSWRSSMIRTLK in isoform 4. VSP_042482Add
BLAST
Alternative sequencei647 – 968322Missing in isoform 4. VSP_042483Add
BLAST
Alternative sequencei748 – 84194Missing in isoform 5. VSP_042484Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti45 – 451G → R in AAC16004. 1 Publication
Sequence conflicti449 – 4491G → V in AAC50933. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q13563-1]

Polymorphism databases

DMDMi116242717.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3627.1. [Q13563-1 ]
PIRi G02640.
RefSeqi NP_000288.1. NM_000297.3. [Q13563-1 ]
UniGenei Hs.181272.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KLD NMR - A 680-796 [» ]
2KLE NMR - A 680-796 [» ]
2KQ6 NMR - A 720-797 [» ]
2Y4Q NMR - A 717-792 [» ]
3HRN X-ray 1.90 A 833-895 [» ]
3HRO X-ray 1.90 A 833-872 [» ]
ProteinModelPortali Q13563.
SMRi Q13563. Positions 720-797, 833-895.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111328. 8 interactions.
DIPi DIP-47455N.
IntActi Q13563. 3 interactions.
MINTi MINT-6618167.
STRINGi 9606.ENSP00000237596.

Chemistry

BindingDBi Q13563.
ChEMBLi CHEMBL5465.
GuidetoPHARMACOLOGYi 504.

Protein family/group databases

TCDBi 1.A.5.2.1. the polycystin cation channel (pcc) family.

PTM databases

PhosphoSitei Q13563.

Polymorphism databases

DMDMi 116242717.

Proteomic databases

MaxQBi Q13563.
PaxDbi Q13563.
PeptideAtlasi Q13563.
PRIDEi Q13563.

Protocols and materials databases

DNASUi 5311.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000237596 ; ENSP00000237596 ; ENSG00000118762 . [Q13563-1 ]
GeneIDi 5311.
KEGGi hsa:5311.
UCSCi uc003hre.3. human. [Q13563-1 ]

Organism-specific databases

CTDi 5311.
GeneCardsi GC04P088929.
GeneReviewsi PKD2.
HGNCi HGNC:9009. PKD2.
HPAi CAB004544.
HPA015794.
HPA055297.
MIMi 173910. gene.
613095. phenotype.
neXtProti NX_Q13563.
Orphaneti 730. Autosomal dominant polycystic kidney disease.
PharmGKBi PA33343.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG325704.
HOGENOMi HOG000230858.
HOVERGENi HBG014945.
InParanoidi Q13563.
KOi K04986.
OMAi AWSRDNP.
OrthoDBi EOG7N8ZTW.
PhylomeDBi Q13563.
TreeFami TF316484.

Miscellaneous databases

ChiTaRSi PKD2. human.
EvolutionaryTracei Q13563.
GeneWikii Polycystic_kidney_disease_2.
GenomeRNAii 5311.
NextBioi 20536.
PROi Q13563.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q13563.
Bgeei Q13563.
CleanExi HS_PKD2.
Genevestigatori Q13563.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
1.20.120.350. 1 hit.
InterProi IPR027359. Channel_four-helix_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view ]
Pfami PF08016. PKD_channel. 1 hit.
[Graphical view ]
PRINTSi PR01433. POLYCYSTIN2.
PROSITEi PS50222. EF_HAND_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  2. "Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)."
    Hayashi T., Mochizuki T., Reynolds D.M., Wu G., Cai Y., Somlo S.
    Genomics 44:131-136(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-28.
  4. "A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2."
    Schneider M.C., Rodriguez A., Nomura H., Zhou J., Morton C.C., Reeders S.T., Weremowicz S.
    Genomics 38:1-4(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 361-968 (ISOFORM 1).
    Tissue: Mammary gland.
  5. "In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2."
    Lehtonen S., Ora A., Olkkonen V.M., Geng L., Zerial M., Somlo S., Lehtonen E.
    J. Biol. Chem. 275:32888-32893(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CD2AP.
  6. "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton."
    Gallagher A.R., Cedzich A., Gretz N., Somlo S., Witzgall R.
    Proc. Natl. Acad. Sci. U.S.A. 97:4017-4022(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HAX1, SUBCELLULAR LOCATION.
  7. Cited for: REVIEW.
  8. "A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1."
    Hackmann K., Markoff A., Qian F., Bogdanova N., Germino G.G., Pennekamp P., Dworniczak B., Horst J., Gerke V.
    Hum. Mol. Genet. 14:3249-3262(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS 2; 3; 4 AND 5).
  9. Cited for: GLYCOSYLATION AT ASN-328.
  10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-812, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis."
    Celic A., Petri E.T., Demeler B., Ehrlich B.E., Boggon T.J.
    J. Biol. Chem. 283:28305-28312(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: 3D-STRUCTURE MODELING, PROTEIN SEQUENCE OF 711-715; 720-724; 804-808 AND 823-827, IDENTIFICATION BY MASS SPECTROMETRY, DOMAIN, CALCIUM-BINDING, CIRCULAR DICHROISM, SUBUNIT, MUTAGENESIS OF THR-771; GLU-774; LEU-842; VAL-846; MET-849; ILE-853; ILE-856 AND VAL-863.
  12. Cited for: VARIANT PKD2 GLY-414.
  13. "Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease."
    Reynolds D.M., Hayashi T., Cai Y., Veldhuisen B., Watnick T.J., Lens X.M., Mochizuki T., Qian F., Maeda Y., Li L., Fossdal R., Coto E., Wu G., Breuning M.H., Germino G.G., Peters D.J.M., Somlo S.
    J. Am. Soc. Nephrol. 10:2342-2351(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PKD2 VAL-511.
  14. "Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease."
    Torra R., Viribay M., Telleria D., Badenas C., Watson M., Harris P.C., Darnell A., San Millan J.L.
    Kidney Int. 56:28-33(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PKD2 PRO-356, VARIANT PRO-28.
  15. "Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations."
    Watnick T.J., He N., Wang K., Liang Y., Parfrey P., Hefferton D., St George-Hyslop P.H., Germino G.G., Pei Y.
    Nat. Genet. 25:143-144(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PKD2 ILE-479 DEL; 504-ARG--VAL-512 DEL AND TYR-684 DEL.
  16. "Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease."
    Reiterova J., Stekrova J., Peters D.J.M., Kapras J., Kohoutova M., Merta M., Zidovska J.
    Hum. Mutat. 19:573-573(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PKD2 TRP-322, VARIANTS LEU-24; PRO-28 AND LEU-800.
  17. Cited for: VARIANTS PKD2 PRO-356; GLY-414; ARG-632 AND GLN-807.
  18. "PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease."
    Stekrova J., Reiterova J., Merta M., Damborsky J., Zidovska J., Kebrdlova V., Kohoutova M.
    Nephrol. Dial. Transplant. 19:1116-1122(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PKD2 GLN-306 AND GLY-420, VARIANT PRO-28.
  19. "Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns."
    Peltola P., Lumiaho A., Miettinen R., Pihlajamaeki J., Sandford R., Laakso M.
    J. Mol. Med. 83:638-646(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PKD2 GLN-322.
  20. "Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease."
    Tan Y.-C., Blumenfeld J.D., Anghel R., Donahue S., Belenkaya R., Balina M., Parker T., Levine D., Leonard D.G.B., Rennert H.
    Hum. Mutat. 30:264-273(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PRO-28; THR-190 AND CYS-482.
  21. "Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)."
    Hoefele J., Mayer K., Scholz M., Klein H.G.
    Nephrol. Dial. Transplant. 26:2181-2188(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PKD2 PRO-384.

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: July 9, 2014
This is version 149 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

External Data

Dasty 3

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