LOCUS HSU50928 5057 bp mRNA linear HUM 12-JUN-1996 DEFINITION Human autosomal dominant polycystic kidney disease type II (PKD2) mRNA, complete cds. ACCESSION U50928 VERSION U50928.1 KEYWORDS . 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 5057) 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.M. 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 2 (bases 1 to 5057) AUTHORS Somlo,S., Mochizuki,T., Wu,G.Q., 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. and Peters,D.J.M. TITLE Direct Submission JOURNAL Submitted (07-MAR-1996) Stefan Somlo, Departments of Medicine and Molecular Genetics, The Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461-1602, USA FEATURES Location/Qualifiers source 1..5057 /db_xref="H-InvDB:HIT000220187" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4q21-23" gene 1..5057 /gene="PKD2" CDS 67..2973 /gene="PKD2" /note="autosomal dominant polycystic kidney disease type II" /codon_start=1 /protein_id="AAC50520.1" /translation="MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPG GLCEQRGLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEE VEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQ GPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLK SVLRELVTYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSM EDFWKFTEGSLLDGLYWKMQPSNQTEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIP QDLRDEIKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYY LDLSRTREETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGG VIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKLHYFRSFWN CLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTV FFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGFAIMFFIIFLAYAQLAYLVFGTQVD DFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNMFLAIIND TYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDE LRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPR PMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRMEHSIGSI VSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEIHREQMERLVREELE RWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV" BASE COUNT 1384 a 1071 c 1190 g 1403 t ORIGIN 1 ggctcctgag gcgcacagcg ccgagcgcgg cgccgcgcac ccgcgcgccg gacgccagtg 61 accgcgatgg tgaactccag tcgcgtgcag cctcagcagc ccggggacgc caagcggccg 121 cccgcgcccc gcgcgccgga cccgggccgg ctgatggctg gctgcgcggc cgtgggcgcc 181 agcctcgccg ccccgggcgg cctctgcgag cagcggggcc tggagatcga gatgcagcgc 241 atccggcagg cggccgcgcg ggaccccccg gccggagccg cggcctcccc ttctcctccg 301 ctctcgtcgt gctcccggca ggcgtggagc cgcgataacc ccggcttcga ggccgaggag 361 gaggaggagg aggtggaagg ggaagaaggc ggaatggtgg tggagatgga cgtagagtgg 421 cgcccgggca gccggaggtc ggccgcctcc tcggccgtga gctccgtggg cgcgcggagc 481 cgggggcttg ggggctacca cggcgcgggc cacccgagcg ggaggcggcg ccggcgagag 541 gaccagggcc cgccgtgccc cagcccagtc ggcggcgggg acccgctgca tcgccacctc 601 cccctggaag ggcagccgcc ccgagtggcc tgggcggaga ggctggttcg cgggctgcga 661 ggtctctggg gaacaagact catggaggaa agcagcacta accgagagaa ataccttaaa 721 agtgttttac gggaactggt cacatacctc ctttttctca tagtcttgtg catcttgacc 781 tacggcatga tgagctccaa tgtgtactac tacacccgga tgatgtcaca gctcttccta 841 gacacccccg tgtccaaaac ggagaaaact aactttaaaa ctctgtcttc catggaagac 901 ttctggaagt tcacagaagg ctccttattg gatgggctgt actggaagat gcagcccagc 961 aaccagactg aagctgacaa ccgaagtttc atcttctatg agaacctgct gttaggggtt 1021 ccacgaatac ggcaactccg agtcagaaat ggatcctgct ctatccccca ggacttgaga 1081 gatgaaatta aagagtgcta tgatgtctac tctgtcagta gtgaagatag ggctcccttt 1141 gggccccgaa atggaaccgc ttggatctac acaagtgaaa aagacttgaa tggtagtagc 1201 cactggggaa tcattgcaac ttatagtgga gctggctatt atctggattt gtcaagaaca 1261 agagaggaaa cagctgcaca agttgctagc ctcaagaaaa atgtctggct ggaccgagga 1321 accagggcaa cttttattga cttctcagtg tacaacgcca acattaacct gttctgtgtg 1381 gtcaggttat tggttgaatt cccagcaaca ggtggtgtga ttccatcttg gcaatttcag 1441 cctttaaagc tgatccgata tgtcacaact tttgatttct tcctggcagc ctgtgagatt 1501 atcttttgtt tctttatctt ttactatgtg gtggaagaga tattggaaat tcgcattcac 1561 aaactacact atttcaggag tttctggaat tgtctggatg ttgtgatcgt tgtgctgtca 1621 gtggtagcta taggaattaa catatacaga acatcaaatg tggaggtgct actacagttt 1681 ctggaagatc aaaatacttt ccccaacttt gagcatctgg catattggca gatacagttc 1741 aacaatatag ctgctgtcac agtatttttt gtctggatta agctcttcaa attcatcaat 1801 tttaacagga ccatgagcca gctctcgaca accatgtctc gatgtgccaa agacctgttt 1861 ggctttgcta ttatgttctt cattattttc ctagcgtatg ctcagttggc ataccttgtc 1921 tttggcactc aggtcgatga cttcagtact ttccaagagt gtatcttcac tcaattccgt 1981 atcattttgg gcgatatcaa ctttgcagag attgaggaag ctaatcgagt tttgggacca 2041 atttatttca ctacatttgt gttctttatg ttcttcattc ttttgaatat gtttttggct 2101 atcatcaatg atacttactc tgaagtgaaa tctgacttgg cacagcagaa agctgaaatg 2161 gaactctcag atcttatcag aaagggctac cataaagctt tggtcaaact aaaactgaaa 2221 aaaaataccg tggatgacat ttcagagagt ctgcggcaag gaggaggcaa gttaaacttt 2281 gacgaacttc gacaagatct caaagggaag ggccatactg atgcagagat tgaggcaata 2341 ttcacaaagt acgaccaaga tggagaccaa gaactgaccg aacatgaaca tcagcagatg 2401 agagacgact tggagaaaga gagggaggac ctggatttgg atcacagttc tttaccacgt 2461 cccatgagca gccgaagttt ccctcgaagc ctggatgact ctgaggagga tgacgatgaa 2521 gatagcggac atagctccag aaggagggga agcatttcta gtggcgtttc ttacgaagag 2581 tttcaagtcc tggtgagacg agtggaccgg atggagcatt ccatcggcag catagtgtcc 2641 aagattgacg ccgtgatcgt gaagctagag attatggagc gagccaaact gaagaggagg 2701 gaggtgctgg gaaggctgtt ggatggggtg gccgaggatg aaaggctggg tcgtgacagt 2761 gaaatccata gggaacagat ggaacggcta gtacgtgaag agttggaacg ctgggaatcc 2821 gatgatgcag cttcccagat cagtcatggt ttaggcacgc cagtgggact aaatggtcaa 2881 cctcgcccca gaagctcccg cccatcttcc tcccaatcta cagaaggcat ggaaggtgca 2941 ggtggaaatg ggagttctaa tgtccacgta tgatatgtgt gtttcagtat gtgtgtttct 3001 aataagtgag gaagtggctg tcctgaattg ctgtaacaag cacactattt atatgccctg 3061 accaccatag gatgctagtc tttgtgaccg attgctaatc ttctgcactt taatttattt 3121 tatataaact ttacccatgg ttcaaagatt tttttttctt tttctcatat aagaaatcta 3181 ggtgtaaata ttgagtacag aaaaaaaatc ttcatgatgt gtattgagcg gtacgcccag 3241 ttgccaccat gactgagtct tctcagttga caatgaagta gccttttaaa gctagaaaac 3301 tgtcaaaggg cttctgagtt tcatttccag tcacaaaaat cagtattgtt atttttttcc 3361 aagagtgtga aggaaaatgg ggcaattcct ttccactctg gcatagttca tgagcttaat 3421 acatagcttt cttttaagaa aggagccttt tttttcaact agcttcctgg ggtaaacttt 3481 tctaaaagat aaaatgggaa ggaactccaa actatgatag aatctgtgtg aatggttaag 3541 atgaatgtta aatactatgc ttttttgtaa gttgatcgta tctgatgtct gtgggactaa 3601 ctgtatcact taatttttac cttattttgg ctctaatttg aataagctga gtaaaaccac 3661 caaagatcag ttataggata aaatggcatc tctaaccata acacaggaga attggaagga 3721 gccctaagtt gtcactcagt ttaatttctt ttaatggtta gtttagccta aagatttatc 3781 tgcatattct ttttcccatg tggctctact catttgcaac tgaatttaat gttataactc 3841 atctagtgag accaacttac taaattttta gtatgcactg aaagttttta tccaacaatt 3901 atgttcattt taagcaaaat tttaagaaag ttttgaaatt cataaagcat ttggttttaa 3961 actattttaa gaatatagta ctcggtcagg tatgnnncac gcctgtaatc ccagcacttt 4021 gggaggccga aacaggcgaa tcacttgagc ccaggagttc aagaccaaca tgggcaatgt 4081 ggcgaaactc catctctaca aaaaatgcaa aaataaaaaa tatagtactc aagtattctt 4141 gatcctgtgt ttcaaaacta gaatttgtaa tgcaaatgga gctcagtcta ataaaaaaga 4201 ggttttggta ttaaaagttc atacattaga cagtatcagc caaaatttga gttagcaaca 4261 ctgttttctt tacgagaggg tctcacccaa atttatgggg agaaatctat ttctcaaaaa 4321 aaaaaaatct tcttttacag aaatgttgag taaggtgaca ttttgagcgc taataagcaa 4381 aagagcatgc agtgctgttg aataaccctc acttggagaa ccaagagaat cctgtcgttt 4441 aatgctatat tttaatttca caagttgttc atttaactgg tagaatgtca gtccaatctc 4501 caatgagaac atgagcaaat agacctttcc aggttgaaag tgaaacatac tgggtttctg 4561 taagtttttc ctcatggctt catctctatc tttactttct cttgaatatg ctacacaaag 4621 ttctttatta ctacatacta aagtttgcat tccagggata ttgactgtac atatttatgt 4681 atatgtacca tgttgttaca tgtaaacaaa cttcaatttg aagtgcagct attatgtggt 4741 atccatgtgt atcgaccatg tgccatatat caattatggt cactagaaag tctctttatg 4801 atacttttta ttgtactgtt tttcatttca cttgcaaaat tttgcagaat tcctcctttc 4861 tacccataaa ttacatataa tttttcttct ttagtcatgg agaacncccc cccatcatct 4921 canccctatt anctttccca tgtgtactgg tattattaaa aagacattta catacgcaag 4981 tttttcactg acaancaaga atgttattaa tgtgtaatac tgagcacntt tacttcttaa 5041 taaaaacttg atatant //