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Q13563

- PKD2_HUMAN

UniProt

Q13563 - PKD2_HUMAN

Protein

Polycystin-2

Gene

PKD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi763 – 77412Add
    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

    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

    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

    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.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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...)Sequence Analysis
    Glycosylationi305 – 3051N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi328 – 3281N-linked (GlcNAc...) (complex)1 Publication
    Glycosylationi362 – 3621N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi375 – 3751N-linked (GlcNAc...)Sequence Analysis
    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.By similarity

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ13563.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 223223CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini245 – 468224ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini490 – 50516CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini527 – 55024ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini572 – 59827CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini620 – 65839ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini680 – 968289CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei224 – 24421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei469 – 48921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei506 – 52621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei551 – 57121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei599 – 61921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei659 – 67921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini750 – 78536EF-handPROSITE-ProRule annotationAdd
    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 – 92689Sequence AnalysisAdd
    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.Curated
    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti45 – 451G → R in AAC16004. (PubMed:9286709)Curated
    Sequence conflicti449 – 4491G → V in AAC50933. (PubMed:8954772)Curated

    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. CuratedVSP_042479
    Alternative sequencei484 – 968485Missing in isoform 2. CuratedVSP_042480Add
    BLAST
    Alternative sequencei517 – 57256Missing in isoform 3. CuratedVSP_042481Add
    BLAST
    Alternative sequencei633 – 64614IFTQF…GDINF → IICSWRSSMIRTLK in isoform 4. CuratedVSP_042482Add
    BLAST
    Alternative sequencei647 – 968322Missing in isoform 4. CuratedVSP_042483Add
    BLAST
    Alternative sequencei748 – 84194Missing in isoform 5. CuratedVSP_042484Add
    BLAST

    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

    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: October 1, 2014
    This is version 150 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