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1.A.5.2.1
Polycystin 2 (PKD2 or PC2) (Anyatonwu and Ehrlich, 2005). Regulated by α-actinin (AAC17470) by direct binding (Li et al., 2007). Regulated by diaphanous-related formin 1 (mDia1) (Bai et al., 2008). Has 6 TMSs with N- and C- termini inside (Hoffmeister et al., 2010).  PC2 interacts with the inositol 1,4,5-trisphosphate receptor (IP(3)R) to modulate Ca2+ signaling (Li et al. 2009). The PKD2 voltage- sensor domain retains two of four gating charges commonly found in voltage-gated ion channels. The PKD2 ion permeation pathway is constricted at the selectivity filter near the cytoplasmic end of S6, suggesting that two gates regulate ion conduction (Shen et al. 2016). 15% of cases of polycystic kidney disease are in this protein, while 85% are in PKD1 (Ghata and Cowley 2017).

Accession Number:Q13563
Protein Name:PKD2
Length:968
Molecular Weight:109691.00
Species:Homo sapiens (Human)   [9606]
Number of TMSs:8
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Ca2+, monovalent cations

Cross database links:

Genevestigator: Q13563
eggNOG: prNOG19057
HEGENOM: HBG358335
RefSeq: NP_000288.1   
Entrez Gene ID: 5311   
Pfam: PF08016   
OMIM: 173900  phenotype
173910  gene+phenotype
KEGG: hsa:5311   

Gene Ontology

GO:0015629 C:actin cytoskeleton
GO:0005783 C:endoplasmic reticulum
GO:0016021 C:integral to membrane
GO:0005932 C:microtubule basal body
GO:0005886 C:plasma membrane
GO:0005509 F:calcium ion binding
GO:0008092 F:cytoskeletal protein binding
GO:0008022 F:protein C-terminus binding
GO:0005247 F:voltage-gated chloride channel activity
GO:0005248 F:voltage-gated sodium channel activity
GO:0007160 P:cell-matrix adhesion
GO:0009887 P:organ morphogenesis

References (19)

[1] “PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.”  Mochizuki T.et.al.   8650545
[2] “Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2).”  Hayashi T.et.al.   9286709
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2.”  Schneider M.C.et.al.   8954772
[5] “In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2.”  Lehtonen S.et.al.   10913159
[6] “The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.”  Gallagher A.R.et.al.   10760273
[7] “Polycystin channels and kidney disease.”  Stayner C.et.al.   11698076
[8] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[9] “Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.”  Molina H.et.al.   17287340
[10] “Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis.”  Celic A.et.al.   18694932
[11] “A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).”  Veldhuisen B.et.al.   9326320
[12] “Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.”  Reynolds D.M.et.al.   10541293
[13] “Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.”  Torra R.et.al.   10411676
[14] “Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.”  Watnick T.J.et.al.   10835625
[15] “Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.”  Reiterova J.et.al.   11968093
[16] “Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.”  Magistroni R.et.al.   12707387
[17] “PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.”  Stekrova J.et.al.   14993477
[18] “Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.”  Peltola P.et.al.   15772804
[19] “Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.”  Tan Y.-C.et.al.   18837007
Structure:
2KLD   2KLE   3HRN   3HRO   2KQ6   2Y4Q   5k47   5t4d     

External Searches:

  • Search: DB with
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  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MVNSSRVQPQ QPGDAKRPPA PRAPDPGRLM AGCAAVGASL AAPGGLCEQR GLEIEMQRIR 
61:	QAAARDPPAG AAASPSPPLS SCSRQAWSRD NPGFEAEEEE EEVEGEEGGM VVEMDVEWRP 
121:	GSRRSAASSA VSSVGARSRG LGGYHGAGHP SGRRRRREDQ GPPCPSPVGG GDPLHRHLPL 
181:	EGQPPRVAWA ERLVRGLRGL WGTRLMEESS TNREKYLKSV LRELVTYLLF LIVLCILTYG 
241:	MMSSNVYYYT RMMSQLFLDT PVSKTEKTNF KTLSSMEDFW KFTEGSLLDG LYWKMQPSNQ 
301:	TEADNRSFIF YENLLLGVPR IRQLRVRNGS CSIPQDLRDE IKECYDVYSV SSEDRAPFGP 
361:	RNGTAWIYTS EKDLNGSSHW GIIATYSGAG YYLDLSRTRE ETAAQVASLK KNVWLDRGTR 
421:	ATFIDFSVYN ANINLFCVVR LLVEFPATGG VIPSWQFQPL KLIRYVTTFD FFLAACEIIF 
481:	CFFIFYYVVE EILEIRIHKL HYFRSFWNCL DVVIVVLSVV AIGINIYRTS NVEVLLQFLE 
541:	DQNTFPNFEH LAYWQIQFNN IAAVTVFFVW IKLFKFINFN RTMSQLSTTM SRCAKDLFGF 
601:	AIMFFIIFLA YAQLAYLVFG TQVDDFSTFQ ECIFTQFRII LGDINFAEIE EANRVLGPIY 
661:	FTTFVFFMFF ILLNMFLAII NDTYSEVKSD LAQQKAEMEL SDLIRKGYHK ALVKLKLKKN 
721:	TVDDISESLR QGGGKLNFDE LRQDLKGKGH TDAEIEAIFT KYDQDGDQEL TEHEHQQMRD 
781:	DLEKEREDLD LDHSSLPRPM SSRSFPRSLD DSEEDDDEDS GHSSRRRGSI SSGVSYEEFQ 
841:	VLVRRVDRME HSIGSIVSKI DAVIVKLEIM ERAKLKRREV LGRLLDGVAE DERLGRDSEI 
901:	HREQMERLVR EELERWESDD AASQISHGLG TPVGLNGQPR PRSSRPSSSQ STEGMEGAGG 
961:	NGSSNVHV