| Nomenclature | Genomic Location |
| Symbol | Pkd2 | Chromosome | 2 |
| Name | Polycystin-2 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr2: 93 Mbp |
| Molecular Function |
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Functions as a calcium permeable cation channel. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis.
Molecular Function Terms:
binding
protein binding
enzyme binding
ATPase binding
receptor binding
transporter activity
substrate-specific transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
cation transmembrane transporter activity
cation channel activity
calcium channel activity
potassium channel activity
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| Human Disease Association |
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Defects in PKD2 are the cause of polycystic kidney disease autosomal dominant type 2
(ADPKD2) [MIM:613095]. ADPKD2 is 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. ADPKD2 is clinically milder than ADPKD1 but it has a
deleterious impact on overall life expectancy.
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1 CTGGCAGGGAGGGAAGAGGCGGGGAGGGGTGCGGCGCCATTCCCGGGCCCACTTCCCAGC
61 ATGGCGGGCGGGCTGGAGCAGCTGGAGCTGGGGCAGCTCCGCGAGTCTCCCTCCTCGCCC
121 TCGTCCTCGCCGCTCTCCTCCTGCTCGAGGCAGGCCTGGAGCCGCGACAACCCGGGCTTC
181 GAGGCCGAGGCGGAGGAGGACGGGGCCAAGGCGGCGGGCAAAGGGCCCGTGCTGCAAATG
241 GAGCCCTCGCAGCTCCCTCAGTCTCCCTCCTCGCCCTCGTCCTCGCCGCTCTCCTCCTGC
301 TCGAGGCAGGCCTGGAGCCGCGACAACCCGGGCTTCGAGGCCGAGGCGGAGGAGGACGGG
361 GCCAAGGCGGCGGGCAAAGGGCCCGTGCTGCAAATGGAGCCCTCGCAGCTCCCTCAGGAA
421 AGCGGGGAGGCCGCAGAGAGCCCCCTTCCTTCTCCTCCGCCTCCGCCTTCTCCTCCTCCG
481 CGCCGCCTGGCCTGGGCCAAGGGATGGGCCAGGCGCCTCAGGGGTCTATGGGGTACAAGA
541 TTAATGGAAGAAACCACAACCAGAGAAAAATACCTGAAAAGTGTTTTGCGAGAATTAATC
601 ACGTATTTGATGTTTCTCCTGGTTCTTTCTATCTTGTCTTATGGGATGGTGAGCTCTAAT
661 ATGTACTACTACACAAAGGCAATGTCACAGGTCTTTCTAGACACACCTATATCAAAAATG
721 GAGAAGATCAACTTCAAAACTTTGTCCACAATGGAAGACTTCTGGAAGTTCACTGAGGGT
781 CCTTTGCTTGATGGATTGTATTGGGACATGTGGTACAACAATAAAACAGTGACAGAGAAT
841 AGAAGTTTCATTTACCACGAGAACCTGCTTTTGGGAATCCCTCGGATGCGGCAGCTGAAA
901 GTGAGAAATGGCTCATGTTTAATACCTGAAGATTTACAGGATGAAATCAAAGACTGTTAC
961 AGTGTTTACTCTGTAGGTAATGAGGACACTGCTCCATTTGGGCTCCGCAATGGAACTGCT
1021 TGGACATACTCCAGTGAAAAAGATCTACATGGGAGCAGCTATTGGGGGCTCATTGCAACG
1081 TACAGCGGAGGTGGCTATTACCAGGATCTTTCTAAAAGCAGAGAAAAGACCTCTGACTTG
1141 ATTGCTGGCCTTAAGAACAACTTGTGGCTTGACAGGGGCACAAGGGCAACATTTATTGAT
1201 TTTTCTGTATACAATGCCAATATCAATCTCTTCTGTATTGTCAGGTTATTAGTGGAGTTC
1261 CCACCAACAGGAGGCCTCCTTACGTCTTGGCAGTTCCAGCCAGTGAAGTTGATACACTAC
1321 ATCTCTACCTTTGACTTCTTCTTAGCTGCCTGTGAAATAATTTTTTGTCTTTTTATTATT
1381 TATTACGTGGTAGAAGAAATCCTAGAAATTCATATTCACAGACTATTCTATTTCAGAAGT
1441 CTTTGGAATTGTCTTGACGTTCTCATTATTCTGCTATCAGTCGCAGCTATCGGAATTAAT
1501 ATATATCAAACATCTGCTGTGGATAGGATGCTGAAGGAGCTCCTGGAAAATCAAAATAGC
1561 TTCCCAAATTTTGAATCTTTATCATACTGGCAAACACAGTTCAACAGTATTGCAGCCATC
1621 ACCATGTTTTTTGTCTGGATGAAGCTTTTTAAATTCATCAACTTCAACCGGACAATGAGC
1681 CAGTTATCTTCCACAATGTCACGATGTGCCAAAGATGTCCTTGGTTTTGCTATTATGTTT
1741 TTCATCATTTTTTTAGCCTATGCACAGCTAGCCTACCTAGTATTTGGCACACAAGTTGAT
1801 GACTTCAGTACCTTCCCGGATAGTATCTTTACACAGTTCCGCATCCTGTTGGGAGATTTT
1861 GACTTTACAGAGGTTGAAGAGACCAACAGAATTTTGGGACCAGTTTATTTCACTACATTT
1921 GTATTCTTTATGTTCTTCATTCTTTTGAACATGTTTTTGGCTATTATCAATGATACATAC
1981 TCAGAGGTCAAGTCGGATATGGCACAACAGAAGTCTGAAATGGAATTGTCAGATCTTATT
2041 AAAAAGGAATACACTAAAGCCATGGTGAAATTAAAATTGAAGAAAACACCAGTTGATGAC
2101 ATTTCAGAGAGTTTACGGCAAAGTGGAGGCAAATTAAACTTTGATGAACTACGGCAGAAC
2161 CTTAAGGGAAAAGGACATACTGATGCTGAGATTGAAGCTATCTTTACAAAGTATGATCAA
2221 GATGGTGATCAGGAATTGACTGAGCTGGAGCATCAACAGATGAGAGATGATTTGGAGAAA
2281 GAGCGAGAGGACTTGGATCTAGACAGAAGCTCTCTGAACCGTCCACTGAGTGGCCGTAGT
2341 TTTCCACGAAGCCTTGATGATTCTGAAGAGGATGATGACGATGACAGCGGGCACAGCTCT
2401 AGGAGGAGAGGCAGCAGCTCAAGTGGAGTATCATATGAAGAGTTTCAAGTATTGGTTCGT
2461 CGTGTGGATCGCATGGAACATTCCATAGGCAGCATTGTTTCAAAGGTCGATGCTGTCATT
2521 ATGAAGCTGGAAATTATGGAGAAAGCAAAACTCAAGAGGAAGGAGGTCTTGGGAAGGCTG
2581 CTGGATGGGGTCACAGAGGATGAAAGATTGGGCCGTGAAAATGAGATGCACAGAGATCAG
2641 ATGGAGAGACTTGTGCGAGAAGAACTGGAGCGCTGGGAATCGGACGATGCCGCTTCTCAA
2701 GTGAGCCACCGCTTGGGGACCCCAATGGGGCTCAATGGCCAAAGCCGGGCAAGGAGCTCC
2761 CGCCCTTCTTCCTCCCAGTCCACAGAAGGCGCTGAGGGCGGGGGGGCCGGGAATGGCGGG
2821 AGCAACGTAAATGTCTAG
| Predicted Protein Product |
LAGREEAGRGAAPFPGPLPSMAGGLEQLELGQLRESPSSPSSSPLSSCSRQAWSRDNPGF
EAEAEEDGAKAAGKGPVLQMEPSQLPQSPSSPSSSPLSSCSRQAWSRDNPGFEAEAEEDG
AKAAGKGPVLQMEPSQLPQESGEAAESPLPSPPPPPSPPPRRLAWAKGWARRLRGLWGTR
LMEETTTREKYLKSVLRELITYLMFLLVLSILSYGMVSSNMYYYTKAMSQVFLDTPISKM
EKINFKTLSTMEDFWKFTEGPLLDGLYWDMWYNNKTVTENRSFIYHENLLLGIPRMRQLK
VRNGSCLIPEDLQDEIKDCYSVYSVGNEDTAPFGLRNGTAWTYSSEKDLHGSSYWGLIAT
YSGGGYYQDLSKSREKTSDLIAGLKNNLWLDRGTRATFIDFSVYNANINLFCIVRLLVEF
PPTGGLLTSWQFQPVKLIHYISTFDFFLAACEIIFCLFIIYYVVEEILEIHIHRLFYFRS
LWNCLDVLIILLSVAAIGINIYQTSAVDRMLKELLENQNSFPNFESLSYWQTQFNSIAAI
TMFFVWMKLFKFINFNRTMSQLSSTMSRCAKDVLGFAIMFFIIFLAYAQLAYLVFGTQVD
DFSTFPDSIFTQFRILLGDFDFTEVEETNRILGPVYFTTFVFFMFFILLNMFLAIINDTY
SEVKSDMAQQKSEMELSDLIKKEYTKAMVKLKLKKTPVDDISESLRQSGGKLNFDELRQN
LKGKGHTDAEIEAIFTKYDQDGDQELTELEHQQMRDDLEKEREDLDLDRSSLNRPLSGRS
FPRSLDDSEEDDDDDSGHSSRRRGSSSSGVSYEEFQVLVRRVDRMEHSIGSIVSKVDAVI
MKLEIMEKAKLKRKEVLGRLLDGVTEDERLGRENEMHRDQMERLVREELERWESDDAASQ
VSHRLGTPMGLNGQSRARSSRPSSSQSTEGAEGGGAGNGGSNVNV
| Protein Alignment to Mouse |
sp|O35245|PKD2_MOUSE Polycystin-2 OS=Mus musculus GN=Pkd2 PE=1 SV=1
Length = 966
Score = 2566 (908.3 bits), Expect = 5.8e-272, Sum P(2) = 5.8e-272
Identities = 495/754 (65%), Positives = 579/754 (76%)
Query: 162 RLAWAKGWARRLRGLWGTRLMEETTT-REKYLKSVLRELITYLMFLLVLSILSYGMVSSN 220
R+AWA+ R LRGLWGTRLMEE+ REKYLKSVLREL+TYL FL+VL IL+YGM+SSN
Sbjct: 184 RVAWAERLVRGLRGLWGTRLMEESNANREKYLKSVLRELVTYLFFLVVLCILTYGMMSSN 243
Query: 221 MYYYTKAMSQVFLDTPISKMEKINFKTLSTMEDFWKFTEGPLLDGLYWDMWYNNKTVTEN 280
+YYYT+ +SQ+F+DTP+SK EK NFKTLS+MEDFWKFTEG LDGLYW +N T +N
Sbjct: 244 VYYYTRTLSQLFIDTPVSKTEKTNFKTLSSMEDFWKFTEGSFLDGLYWKAQTSNHTQADN 303
Query: 281 RSFIYHENLLLGIPRMRQLKVRNGSCLIPEDLQDEIKDCYSVYSVGNEDTAPFGLRNGTA 340
RSFI++ENLLLG+PR+RQL+VRNGSC IP+DL+DEIK+CY VYSV +ED APFG RNGTA
Sbjct: 304 RSFIFYENLLLGVPRLRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGPRNGTA 363
Query: 341 WTYSSEKDLHGSSYWGLIATYSGGGYYQDLSKSREKTSDLIAGLKNNLWLDRGTRATFID 400
W Y+SE++L+GSS+WG+IA+YSG GYY DLS++RE+T+ +AGL+ N WLDRGTRA FID
Sbjct: 364 WIYTSERELNGSSHWGIIASYSGAGYYLDLSRTREETAAQLAGLRRNFWLDRGTRAAFID 423
Query: 401 FSVYNANINLFCIVRLLVEFPPTGGLLTSWQFQPVKLIHYISTFDFFLAACEIIFCLFXX 460
FSVYNANINLFC+VRLL EFP TGG++ SWQFQPVKLI Y++ FDFFLAACEIIFC F
Sbjct: 424 FSVYNANINLFCVVRLLAEFPATGGVVPSWQFQPVKLIRYVTAFDFFLAACEIIFCFFII 483
Query: 461 XXXXXXXXXXXXXRLFYFRSLWNCLDVLIILLSVAAIGINIYQTSAVDRMLKELLENQNS 520
RL YFRS WNCLDV+I++LSV A+ INIY+ S + +L + LE+QNS
Sbjct: 484 YYVVEEILEIRIHRLSYFRSFWNCLDVVIVVLSVVAMVINIYRMSNAEGLL-QFLEDQNS 542
Query: 521 FPNFESLSYWQTQFNSIAAITMFFVWMKLFKFINFNRTMSQLSSTMSRCAKDVLGFAIMF 580
FPNFE ++YWQ QFN+IAA+ +F VW+KLFKFINFNRTMSQLS+TMSRCAKD+ GF IMF
Sbjct: 543 FPNFEHVAYWQIQFNNIAAVMVFLVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGFTIMF 602
Query: 581 FIIFLAYAQLAYLVFGTQVDDFSTFPDSIFTQFRILLGDFDFTEVEETNRILGPVYXXXX 640
IIFLAYAQLAYLVFGTQVDDFSTF + IFTQFRI+LGD +F E+EE NR+LGP+Y
Sbjct: 603 SIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPLYFTTF 662
Query: 641 XXXXXXXXXXXXXXXXXDTYSEVKSDMAQQKSEMELSDLIKKEYTKAMVKLKLKKTPVDD 700
D+YSEVKSD+AQQK+EMELSDLI+K KA+VKLKLK+ VD
Sbjct: 663 VFFMFFILLNMFLAIINDSYSEVKSDLAQQKAEMELSDLIRKGCQKALVKLKLKRNTVDA 722
Query: 701 ISESLRQSGGKLNFDELRQNLKGKGHTDAEIEAIFTKYDQDGDQELTELEHQQMXXXXXX 760
ISESLRQ GGKLNFDELRQ+LKGKGHTDAEIEAIFTKYDQDGDQELTE EHQQM
Sbjct: 723 ISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEREHQQMRDDLEK 782
Query: 761 XXXXXXXXXSSLNRPLSGRSFPXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXFQVLVR 820
SSL RP+S RSFP FQVLVR
Sbjct: 783 EREDLDLEHSSLPRPMSSRSFPRSLDDSEEEDDEDSGHSSRRRGSISSGVSYEEFQVLVR 842
Query: 821 RVDRMEHSIGSIVSKVDAVIMKLEIMEKAKLKRKEVLGRLLDGVTEDERLGRENEMHRDQ 880
RVDRMEHSIGSIVSK+DAVI+KLEIME+AKLKR+EVLGRLLDGV ED RLGR++E+HR+Q
Sbjct: 843 RVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDARLGRDSEIHREQ 902
Query: 881 MXXXXXXXXXXXXSDDAASQVSHRLGTPMGLNGQ 914
M SDDAASQ H + T +GL GQ
Sbjct: 903 MERLVREELERWESDDAASQTGHGVSTQVGLGGQ 936
Score = 66 (28.3 bits), Expect = 5.8e-272, Sum P(2) = 5.8e-272
Identities = 11/11 (100%), Positives = 11/11 (100%)
Query: 100 CSRQAWSRDNP 110
CSRQAWSRDNP
Sbjct: 78 CSRQAWSRDNP 88
Score = 53 (23.7 bits), Expect = 1.4e-270, Sum P(2) = 1.4e-270
Identities = 9/9 (100%), Positives = 9/9 (100%)
Query: 50 RQAWSRDNP 58
RQAWSRDNP
Sbjct: 80 RQAWSRDNP 88
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