LOCUS       NM_000297               5089 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens polycystin 2, transient receptor potential cation
            channel (PKD2), transcript variant 1, mRNA.
ACCESSION   NM_000297
VERSION     NM_000297.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5089)
  AUTHORS   Staudner,T., Geiges,L., Khamseekaew,J., Sure,F., Korbmacher,C. and
            Ilyaskin,A.V.
  TITLE     Disease-associated missense mutations in the pore loop of
            polycystin-2 alter its ion channel function in a heterologous
            expression system
  JOURNAL   J Biol Chem 300 (8), 107574 (2024)
   PUBMED   39009345
  REMARK    GeneRIF: Disease-associated missense mutations in the pore loop of
            polycystin-2 alter its ion channel function in a heterologous
            expression system.
REFERENCE   2  (bases 1 to 5089)
  AUTHORS   Xu,D., Mao,A., Chen,L., Wu,L., Ma,Y. and Mei,C.
  TITLE     Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in
            Autosomal Dominant Polycystic Kidney Disease
  JOURNAL   Clin Chem 70 (6), 841-854 (2024)
   PUBMED   38527221
  REMARK    GeneRIF: Comprehensive Analysis of PKD1 and PKD2 by Long-Read
            Sequencing in Autosomal Dominant Polycystic Kidney Disease.
REFERENCE   3  (bases 1 to 5089)
  AUTHORS   Wang,Z., Chen,M., Su,Q., Morais,T.D.C., Wang,Y., Nazginov,E.,
            Pillai,A.R., Qian,F., Shi,Y. and Yu,Y.
  TITLE     Molecular and structural basis of the dual regulation of the
            polycystin-2 ion channel by small-molecule ligands
  JOURNAL   Proc Natl Acad Sci U S A 121 (12), e2316230121 (2024)
   PUBMED   38483987
REFERENCE   4  (bases 1 to 5089)
  AUTHORS   Qian,F., Germino,F.J., Cai,Y., Zhang,X., Somlo,S. and Germino,G.G.
  TITLE     PKD1 interacts with PKD2 through a probable coiled-coil domain
  JOURNAL   Nat Genet 16 (2), 179-183 (1997)
   PUBMED   9171830
REFERENCE   5  (bases 1 to 5089)
  AUTHORS   Schneider,M.C., Rodriguez,A.M., Nomura,H., Zhou,J., Morton,C.C.,
            Reeders,S.T. and Weremowicz,S.
  TITLE     A gene similar to PKD1 maps to chromosome 4q22: a candidate gene
            for PKD2
  JOURNAL   Genomics 38 (1), 1-4 (1996)
   PUBMED   8954772
REFERENCE   6  (bases 1 to 5089)
  AUTHORS   Mochizuki,T., Wu,G., Hayashi,T., Xenophontos,S.L., Veldhuisen,B.,
            Saris,J.J., Reynolds,D.M., Cai,Y., Gabow,P.A., Pierides,A.,
            Kimberling,W.J., Breuning,M.H., Deltas,C.C., Peters,D.J. and
            Somlo,S.
  TITLE     PKD2, a gene for polycystic kidney disease that encodes an integral
            membrane protein
  JOURNAL   Science 272 (5266), 1339-1342 (1996)
   PUBMED   8650545
REFERENCE   7  (bases 1 to 5089)
  AUTHORS   Peters,D.J., Spruit,L., Saris,J.J., Ravine,D., Sandkuijl,L.A.,
            Fossdal,R., Boersma,J., van Eijk,R., Norby,S.,
            Constantinou-Deltas,C.D. et al.
  TITLE     Chromosome 4 localization of a second gene for autosomal dominant
            polycystic kidney disease
  JOURNAL   Nat Genet 5 (4), 359-362 (1993)
   PUBMED   8298643
REFERENCE   8  (bases 1 to 5089)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   9  (bases 1 to 5089)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301424
REFERENCE   10 (bases 1 to 5089)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084732.1, BC112263.1,
            AF054992.1, AF113693.1 and AW600307.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000297.3.
            
            Summary: This gene encodes a member of the polycystin protein
            family. The encoded protein is a multi-pass membrane protein that
            functions as a calcium permeable cation channel, and is involved in
            calcium transport and calcium signaling in renal epithelial cells.
            This protein interacts with polycystin 1, and they may be partners
            in a common signaling cascade involved in tubular morphogenesis.
            Mutations in this gene are associated with autosomal dominant
            polycystic kidney disease type 2. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U50928.1, BC112261.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237596.7/ ENSP00000237596.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC084732.1         171329-171340       c
            13-3066             BC112263.1         1-3054
            3067-4242           AF054992.1         181-1356
            4243-5086           AF113693.1         451-1294
            5087-5089           AW600307.1         188-190
FEATURES             Location/Qualifiers
     source          1..5089
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..5089
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="polycystin 2, transient receptor potential cation
                     channel"
                     /db_xref="GeneID:5311"
                     /db_xref="HGNC:HGNC:9009"
                     /db_xref="MIM:173910"
     exon            1..694
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..3006
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="polycystic kidney disease 2 (autosomal dominant);
                     autosomal dominant polycystic kidney disease type II
                     protein; transient receptor potential cation channel
                     subfamily P member 2"
                     /codon_start=1
                     /product="polycystin-2"
                     /protein_id="NP_000288.1"
                     /db_xref="CCDS:CCDS3627.1"
                     /db_xref="GeneID:5311"
                     /db_xref="HGNC:HGNC:9009"
                     /db_xref="MIM:173910"
                     /translation="MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPG
                     GLCEQRGLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEE
                     VEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQ
                     GPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLK
                     SVLRELVTYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSM
                     EDFWKFTEGSLLDGLYWKMQPSNQTEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIP
                     QDLRDEIKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYY
                     LDLSRTREETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGG
                     VIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKLHYFRSFWN
                     CLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTV
                     FFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGFAIMFFIIFLAYAQLAYLVFGTQVD
                     DFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNMFLAIIND
                     TYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDE
                     LRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPR
                     PMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRMEHSIGSI
                     VSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEIHREQMERLVREELE
                     RWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV"
     exon            695..808
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            809..942
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1193
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1418
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1419..1647
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1815
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1997
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2118
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2119..2217
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2218..2339
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2340..2457
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2458..2621
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2622..2769
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2770..5089
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5067..5072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="hexamer: AATAAA"
     polyA_site      5089
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="major polyA site"
ORIGIN      
        1 aggcggcggc gggcgccggg aagaaaggaa catggctcct gaggcgcaca gcgccgagcg
       61 cggcgccgcg cacccgcgcg ccggacgcca gtgaccgcga tggtgaactc cagtcgcgtg
      121 cagcctcagc agcccgggga cgccaagcgg ccgcccgcgc cccgcgcgcc ggacccgggc
      181 cggctgatgg ctggctgcgc ggccgtgggc gccagcctcg ccgccccggg cggcctctgc
      241 gagcagcggg gcctggagat cgagatgcag cgcatccggc aggcggccgc gcgggacccc
      301 ccggccggag ccgcggcctc cccttctcct ccgctctcgt cgtgctcccg gcaggcgtgg
      361 agccgcgata accccggctt cgaggccgag gaggaggagg aggaggtgga aggggaagaa
      421 ggcggaatgg tggtggagat ggacgtagag tggcgcccgg gcagccggag gtcggccgcc
      481 tcctcggccg tgagctccgt gggcgcgcgg agccgggggc ttgggggcta ccacggcgcg
      541 ggccacccga gcgggaggcg gcgccggcga gaggaccagg gcccgccgtg ccccagccca
      601 gtcggcggcg gggacccgct gcatcgccac ctccccctgg aagggcagcc gccccgagtg
      661 gcctgggcgg agaggctggt tcgcgggctg cgaggtctct ggggaacaag actcatggag
      721 gaaagcagca ctaaccgaga gaaatacctt aaaagtgttt tacgggaact ggtcacatac
      781 ctcctttttc tcatagtctt gtgcatcttg acctacggca tgatgagctc caatgtgtac
      841 tactacaccc ggatgatgtc acagctcttc ctagacaccc ccgtgtccaa aacggagaaa
      901 actaacttta aaactctgtc ttccatggaa gacttctgga agttcacaga aggctcctta
      961 ttggatgggc tgtactggaa gatgcagccc agcaaccaga ctgaagctga caaccgaagt
     1021 ttcatcttct atgagaacct gctgttaggg gttccacgaa tacggcaact ccgagtcaga
     1081 aatggatcct gctctatccc ccaggacttg agagatgaaa ttaaagagtg ctatgatgtc
     1141 tactctgtca gtagtgaaga tagggctccc tttgggcccc gaaatggaac cgcttggatc
     1201 tacacaagtg aaaaagactt gaatggtagt agccactggg gaatcattgc aacttatagt
     1261 ggagctggct attatctgga tttgtcaaga acaagagagg aaacagctgc acaagttgct
     1321 agcctcaaga aaaatgtctg gctggaccga ggaaccaggg caacttttat tgacttctca
     1381 gtgtacaacg ccaacattaa cctgttctgt gtggtcaggt tattggttga attcccagca
     1441 acaggtggtg tgattccatc ttggcaattt cagcctttaa agctgatccg atatgtcaca
     1501 acttttgatt tcttcctggc agcctgtgag attatctttt gtttctttat cttttactat
     1561 gtggtggaag agatattgga aattcgcatt cacaaactac actatttcag gagtttctgg
     1621 aattgtctgg atgttgtgat cgttgtgctg tcagtggtag ctataggaat taacatatac
     1681 agaacatcaa atgtggaggt gctactacag tttctggaag atcaaaatac tttccccaac
     1741 tttgagcatc tggcatattg gcagatacag ttcaacaata tagctgctgt cacagtattt
     1801 tttgtctgga ttaagctctt caaattcatc aattttaaca ggaccatgag ccagctctcg
     1861 acaaccatgt ctcgatgtgc caaagacctg tttggctttg ctattatgtt cttcattatt
     1921 ttcctagcgt atgctcagtt ggcatacctt gtctttggca ctcaggtcga tgacttcagt
     1981 actttccaag agtgtatctt cactcaattc cgtatcattt tgggcgatat caactttgca
     2041 gagattgagg aagctaatcg agttttggga ccaatttatt tcactacatt tgtgttcttt
     2101 atgttcttca ttcttttgaa tatgtttttg gctatcatca atgatactta ctctgaagtg
     2161 aaatctgact tggcacagca gaaagctgaa atggaactct cagatcttat cagaaagggc
     2221 taccataaag ctttggtcaa actaaaactg aaaaaaaata ccgtggatga catttcagag
     2281 agtctgcggc aaggaggagg caagttaaac tttgacgaac ttcgacaaga tctcaaaggg
     2341 aagggccata ctgatgcaga gattgaggca atattcacaa agtacgacca agatggagac
     2401 caagaactga ccgaacatga acatcagcag atgagagacg acttggagaa agagagggag
     2461 gacctggatt tggatcacag ttctttacca cgtcccatga gcagccgaag tttccctcga
     2521 agcctggatg actctgagga ggatgacgat gaagatagcg gacatagctc cagaaggagg
     2581 ggaagcattt ctagtggcgt ttcttacgaa gagtttcaag tcctggtgag acgagtggac
     2641 cggatggagc attccatcgg cagcatagtg tccaagattg acgccgtgat cgtgaagcta
     2701 gagattatgg agcgagccaa actgaagagg agggaggtgc tgggaaggct gttggatggg
     2761 gtggccgagg atgaaaggct gggtcgtgac agtgaaatcc atagggaaca gatggaacgg
     2821 ctagtacgtg aagagttgga acgctgggaa tccgatgatg cagcttccca gatcagtcat
     2881 ggtttaggca cgccagtggg actaaatggt caacctcgcc ccagaagctc ccgcccatct
     2941 tcctcccaat ctacagaagg catggaaggt gcaggtggaa atgggagttc taatgtccac
     3001 gtatgatatg tgtgtttcag tatgtgtgtt tctaataagt gaggaagtgg ctgtcctgaa
     3061 ttgctgtaac aagcacacta tttatatgcc ctgaccacca taggatgcta gtctttgtga
     3121 ccgattgcta atcttctgca ctttaattta ttttatataa actttaccca tggttcaaag
     3181 attttttttt ctttttctca tataagaaat ctaggtgtaa atattgagta cagaaaaaaa
     3241 atcttcatga tgtgtattga gcggtacgcc cagttgccac catgactgag tcttctcagt
     3301 tgacaatgaa gtagcctttt aaagctagaa aactgtcaaa gggcttctga gtttcatttc
     3361 cagtcacaaa aatcagtatt gttatttttt tccaagagtg tgaaggaaaa tggggcattc
     3421 ctttccactc tggcatagtt catgagctta atacatagct ttcttttaag aaaggagcct
     3481 tttttttcaa ctagcttcct ggggtaaact tttctaaaag ataaaatgga aaggaactcc
     3541 aaactatgat agaatctgtg tgaatggtta agatgaatgt taaatactat gcttttttgt
     3601 aagttgatcg tatctgatgt ctgtgggact aactgtatca cttaattttt accttatttt
     3661 ggctctaatt tgaataagct gagtaaaacc accaaagatc agttatagga taaaatggca
     3721 tctctaacca taacacagga gaattggaag gagccctaag ttgtcactca gtttaatttc
     3781 ttttaatggt tagtttagcc taaagattta tctgcatatt ctttttccca tgtggctcta
     3841 ctcatttgca actgaattta atgttataac tcatctagtg agaccaactt actaaatttt
     3901 tagtatgcac tgaaagtttt tatccaacaa ttatgttcat tttaagcaaa attttaagaa
     3961 agttttgaaa ttcataaagc atttggtttt aaactatttt aagaatatag tactcggtca
     4021 ggtatgacgg ctcacgcctg taatcccagc actttgggag gccgaaacag gcgaatcact
     4081 tgagcccagg agttcaagac caacatgggc aatgtggcga aactccatct ctacaaaaaa
     4141 tgcaaaaata aaaaatatag tactcaagta ttcttgatcc tgtgtttcaa aactagaatt
     4201 tgtaatgcaa atggagctca gtctaataaa aaagaggttt tggtattaaa agttcataca
     4261 ttagacagta tcagccaaaa tttgagttag caacactgtt ttctttacga gagggtctca
     4321 cccaaattta tggggagaaa tctatttctc aaaaaaaaaa atcttctttt acagaaatgt
     4381 tgagtaaggt gacattttga gcgctaataa gcaaaagagc atgcagtgct gttgaataac
     4441 cctcacttgg agaaccaaga gaatcctgtc gtttaatgct atattttaat ttcacaagtt
     4501 gttcatttaa ctggtagaat gtcagtccaa tctccaatga gaacatgagc aaatagacct
     4561 ttccaggttg aaagtgaaac atactgggtt tctgtaagtt tttcctcatg gcttcatctc
     4621 tatctttact ttctcttgaa tatgctacac aaagttcttt attactacat actaaagttt
     4681 gcattccagg gatattgact gtacatattt atgtatatgt accatgttgt tacatgtaaa
     4741 caaacttcaa tttgaagtgc agctattatg tggtatccat gtgtatcgac catgtgccat
     4801 atatcaatta tggtcactag aaagtctctt tatgatactt tttattgtac tgtttttcat
     4861 ttcacttgca aaattttgca gaattcctcc tttctaccca taaattacat atatttttct
     4921 tctttagtca tggagaactc cccccctcat ctcttcccta ttatctttcc ctgtgtactg
     4981 gtattattaa aaagacatta catacgcaag tctttctcga caatcaagaa tgttattaat
     5041 gtgtaatact gagcacttta cttcttaata aaaacttgat atagtagca
//
