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
//