LOCUS       NM_000486               4180 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens aquaporin 2 (AQP2), mRNA.
ACCESSION   NM_000486
VERSION     NM_000486.6
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 4180)
  AUTHORS   Liu,J., Wang,Y., Gao,B., Zhang,K., Li,H., Ren,J., Huo,F., Zhao,B.,
            Zhang,L., Zhang,S. and He,H.
  TITLE     Ionic Liquid Gating Induces Anomalous Permeation through Membrane
            Channel Proteins
  JOURNAL   J Am Chem Soc 146 (19), 13588-13597 (2024)
   PUBMED   38695646
  REMARK    GeneRIF: Ionic Liquid Gating Induces Anomalous Permeation through
            Membrane Channel Proteins.
REFERENCE   2  (bases 1 to 4180)
  AUTHORS   Abdelhamid,N., Almawla,M.A.A., Wahby,A.A., Ismail,M.,
            Elmikaty,H.A., Hamed,H.M., Ashmawy,I., Abdelraoaf,B.M.,
            Abdelhamid,E.M. and Salam,H.M.
  TITLE     Diurnal rhythm of urinary aquaporin-2 in children with primary
            monosymptomatic nocturnal enuresis
  JOURNAL   Turk J Med Sci 54 (1), 194-203 (2023)
   PUBMED   38812639
  REMARK    GeneRIF: Diurnal rhythm of urinary aquaporin-2 in children with
            primary monosymptomatic nocturnal enuresis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4180)
  AUTHORS   Schenk,A.D., Werten,P.J., Scheuring,S., de Groot,B.L., Muller,S.A.,
            Stahlberg,H., Philippsen,A. and Engel,A.
  TITLE     The 4.5 A structure of human AQP2
  JOURNAL   J Mol Biol 350 (2), 278-289 (2005)
   PUBMED   15922355
  REMARK    GeneRIF: crystallization of recombinantly expressed human AQP2 into
            two-dimensional protein-lipid arrays and their structural
            characterization by atomic force microscopy and electron
            crystallography
REFERENCE   4  (bases 1 to 4180)
  AUTHORS   Ma,T., Yang,B., Umenishi,F. and Verkman,A.S.
  TITLE     Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in
            a 27-kilobase segment at chromosome locus 12q13
  JOURNAL   Genomics 43 (3), 387-389 (1997)
   PUBMED   9268644
REFERENCE   5  (bases 1 to 4180)
  AUTHORS   Saito,F., Sasaki,S., Chepelinsky,A.B., Fushimi,K., Marumo,F. and
            Ikeuchi,T.
  TITLE     Human AQP2 and MIP genes, two members of the MIP family, map within
            chromosome band 12q13 on the basis of two-color FISH
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 45-48 (1995)
   PUBMED   7525161
REFERENCE   6  (bases 1 to 4180)
  AUTHORS   Uchida,S., Sasaki,S., Fushimi,K. and Marumo,F.
  TITLE     Isolation of human aquaporin-CD gene
  JOURNAL   J Biol Chem 269 (38), 23451-23455 (1994)
   PUBMED   7522228
REFERENCE   7  (bases 1 to 4180)
  AUTHORS   Sasaki,S., Fushimi,K., Saito,H., Saito,F., Uchida,S., Ishibashi,K.,
            Kuwahara,M., Ikeuchi,T., Inui,K., Nakajima,K. et al.
  TITLE     Cloning, characterization, and chromosomal mapping of human
            aquaporin of collecting duct
  JOURNAL   J Clin Invest 93 (3), 1250-1256 (1994)
   PUBMED   7510718
  REMARK    Erratum:[J Clin Invest 1994 Nov;94(5):following 216]
REFERENCE   8  (bases 1 to 4180)
  AUTHORS   Knoers,N. and Lemmink,H.
  TITLE     Hereditary Nephrogenic Diabetes Insipidus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301356
REFERENCE   9  (bases 1 to 4180)
  AUTHORS   Zeidel,M.L., Ambudkar,S.V., Smith,B.L. and Agre,P.
  TITLE     Reconstitution of functional water channels in liposomes containing
            purified red cell CHIP28 protein
  JOURNAL   Biochemistry 31 (33), 7436-7440 (1992)
   PUBMED   1510932
REFERENCE   10 (bases 1 to 4180)
  AUTHORS   Preston,G.M., Carroll,T.P., Guggino,W.B. and Agre,P.
  TITLE     Appearance of water channels in Xenopus oocytes expressing red cell
            CHIP28 protein
  JOURNAL   Science 256 (5055), 385-387 (1992)
   PUBMED   1373524
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025154.31, AK225940.1,
            AI792401.1 and BC042496.1.
            
            On Dec 27, 2019 this sequence version replaced NM_000486.5.
            
            Summary: This gene encodes a water channel protein located in the
            kidney collecting tubule. It belongs to the MIP/aquaporin family,
            some members of which are clustered together on chromosome 12q13.
            Mutations in this gene have been linked to autosomal dominant and
            recessive forms of nephrogenic diabetes insipidus. [provided by
            RefSeq, Oct 2008].
            
            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 :: BC042496.1, S73196.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000199280.4/ ENSP00000199280.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC025154.31        3127-3130
            5-594               AK225940.1         1-590
            595-595             AC025154.31        6685-6685
            596-723             AK225940.1         592-719
            724-929             AI792401.1         44-249
            930-930             AC025154.31        8018-8018
            931-1070            AI792401.1         251-390
            1071-2471           BC042496.1         1062-2462
            2472-3912           AC025154.31        9560-11000
            3913-4180           BC042496.1         3904-4171
FEATURES             Location/Qualifiers
     source          1..4180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..4180
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="aquaporin 2"
                     /db_xref="GeneID:359"
                     /db_xref="HGNC:HGNC:634"
                     /db_xref="MIM:107777"
     exon            1..454
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..910
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="water-channel aquaporin 2; collecting duct water
                     channel protein; aquaporin-CD; AQP-2; ADH water channel;
                     water channel protein for renal collecting duct; aquaporin
                     2 (collecting duct)"
                     /codon_start=1
                     /product="aquaporin-2"
                     /protein_id="NP_000477.1"
                     /db_xref="CCDS:CCDS8792.1"
                     /db_xref="GeneID:359"
                     /db_xref="HGNC:HGNC:634"
                     /db_xref="MIM:107777"
                     /translation="MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQI
                     AMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAA
                     LLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTP
                     ALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLL
                     YNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA"
     exon            455..619
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /inference="alignment:Splign:2.1.0"
     exon            620..700
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /inference="alignment:Splign:2.1.0"
     exon            701..4180
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="hexamer: AATAAA"
     polyA_site      1482
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
     regulatory      4161..4166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="hexamer: AATAAA"
     polyA_site      4180
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="major polyA site"
ORIGIN      
        1 aggccttgag aaagagagcg atagagtgcg agagcgagtg cccggagcat cctggccctg
       61 agacagctgg gccagccccg cagggctctg cagcatgtgg gagctccgct ccatagcctt
      121 ctccagggct gtgttcgcag agttcctggc cacactcctc ttcgtcttct ttggcctcgg
      181 ctctgccctc aactggccac aggccctgcc ctctgtgcta cagattgcca tggcgtttgg
      241 cttgggtatt ggcaccctgg tacaggctct gggccacata agcggggccc acatcaaccc
      301 tgccgtgact gtggcctgcc tggtgggctg ccacgtctcc gttctccgag ccgccttcta
      361 cgtggctgcc cagctgctgg gggctgtggc cggagccgct ctgctccatg agatcacgcc
      421 agcagacatc cgcggggacc tggctgtcaa tgctctcagc aacagcacga cggctggcca
      481 ggcggtgact gtggagctct tcctgacact gcagctggtg ctctgcatct tcgcctccac
      541 cgatgagcgc cgcggagaga acccgggcac ccctgctctc tccataggct tctctgtggc
      601 cctgggccac ctccttggga tccattacac cggctgctct atgaatcctg cccgctccct
      661 ggctccagct gtcgtcactg gcaaatttga tgaccactgg gtcttctgga tcggacccct
      721 ggtgggcgcc atcctgggct ccctcctcta caactacgtg ctgtttccgc cagccaagag
      781 cctgtcggag cgcctggcag tgctgaaggg cctggagccg gacaccgatt gggaggagcg
      841 cgaggtgcga cggcggcagt cggtggagct gcactcgccg cagagcctgc cacggggtac
      901 caaggcctga gggccgccag cggcctctac ggccccgacg gacgcttgtg aggcccgagg
      961 cagaagggcc caccccgtcc ctcctctccc gcaggtctga agttggcccc ccagcgcaga
     1021 gtagctgctt cctggacgtg cgcgcccagg ccagtgctgt gagcaggcgg ggaggaggct
     1081 gccggaggga gccctgagcc tggcaggtcc cctgccctga ggctgtgagc agctagtggt
     1141 ggcttctcca gcctttttca gggaactggg aacttagggg actgagctgg ggagggaggc
     1201 aggtgggtgg taagagggaa actctggaga gcctgcaccc aggtactgag tggggagtgt
     1261 acagacccct gccttggggg ttccgggaat gatgcaactg gttttactag tgtgcaagtg
     1321 tgttcatccc caagttctct tttgtcctca catgcagagt tgtgcatgcc cctgagtgtg
     1381 aacaggtttg cctacgttgg tgcaagtgtg catggctggg gacttctcac ttccccttgc
     1441 accccttcct ccccaacctg caataaatcc gcttctcctg cagtggatga gtgtgggtgc
     1501 cagtcctcct caggagaagg ggaagggaag gaggccactt tgagagggct gaagggaggg
     1561 ccttgatttc cagccgcaat ctggctcctc ctggaaaatt tcccccacct gcagcgctgg
     1621 gccccaaggc ttgccaagac tcattgctgg aggtagagag gtgtcaacca gagaacagct
     1681 cccctagaca tggcctctgg aaaaaggaaa tctttggtgg ccaaagattt cctttctgtg
     1741 gtgagggaga acctctccaa agaggaagca ggcatatgag tgcgcacgcc ttcacgtgtg
     1801 tgtatgctgt gtgtgcccgg gacccccgtc tccaggggtg ccccagaccc agagattagc
     1861 ctcccacttc ggcgcagaaa acaaaagccc tttgtgggac ccgggccttt gtcttgggtg
     1921 aggggagatt tgcacctaga cacttcttga aaggagacac tcagtttcac aagtgagccc
     1981 tcttgcccag cacacaccta tggctggctg ggcaaggcgc tcaggcatgc aaccatgggc
     2041 accaggcaat acccatccat cacccatctc actctcccca gtcctcaggc agcagctttt
     2101 ccaccccagg aatctctgtt ccttctctgt ctgcctctcc acagcccgtg atcccctgct
     2161 tctggctcct accactggac agtcattgtg gatagagcag cctgctgctc tcaggaccag
     2221 agaagggaaa tgacttctcc aggcagaggc agatctgagt ctagaaccca ggcttctaaa
     2281 tttctaggcc agtactactg ctctcaaaag agattaactg ggattaagtg agatgacgca
     2341 tgtaaagatg ctgtgtaaac tgtaattctt aataccatta tcacgcatta ctagaatcat
     2401 ttcattattt ctgcttcctg ggggaaggat gcagaaggag tctgatgctc aacatccctt
     2461 acctcctttc gttgatggcc aaagcaaagg agagtcctgg gagcccacaa gatccaggca
     2521 gaaggagatg ggtttggggc tggccccatc ctggcccagc ctcttaacct cttcttaccc
     2581 tgaatgtgtg ccctatcttt tctcccacct ccttcctcct accacccagc cctatccatt
     2641 ctctccttcc ctctccagcc tgctgtataa gtaacatgtg ggtcatacct tgaacccccc
     2701 tccgccccca tgctctctgt ggcctccatg ccttcaagac ttctgtctgt atctatctca
     2761 cactgcacca agcacccact gtgcaccagg cactaagtct ctagcctctt tctcccttct
     2821 gctcccatcc aagaaagaca gtgtataagg aacatctctg taattgtgtc ccctctcatc
     2881 tatgctcttt cctgtcttcc ttgaccaaag ctctctttga ggtccaaaaa aggctgccct
     2941 gggccatatg tgctatggag aggactctcc caaaccccca atagctagtg acagccactt
     3001 ggcctcacta ccagaagaag ggtggagtca gaaaccaaag tgacctccag agctgtcctc
     3061 ctggcacctg agtgtccttg ctctagaggt tcaaaggcag caaggcagtg agctatgagc
     3121 ccagcatgga tgtgtctcag gcacctcatc cccaccccac ctcaccccaa caaactcctc
     3181 tagaagaagc caagaatttc tctctatgtc tgtttcactt tttggattgc atctccccaa
     3241 aaactaaatg tgaaatccct accatttcta gcctctattg cccagattgg agtcagaggt
     3301 caaaaaagga ttccaagtga tggaactcca ggggtggagg gaaattggca gttcctggca
     3361 tctcttgtgt accagctgct gtgctgggtg ccttgcatgc acggacttat ctgatcttcc
     3421 tcaaacttca gataggttag ggaaggacaa aggcccccag ccatgaaggg ttttgctatt
     3481 tccaaagctt ccccttatcg tcccctgtga ttatctccca accccgtgac aaaggtagag
     3541 caaatattgt tcttcccatt ttacagattc agaaaccaag gctaagggac tggtctaaag
     3601 tctcacaggt agtatatggt ggagccaaca cttgaactca gaccttttta cacaaaatcc
     3661 catgattttt ccactgagac aaatcctagg ctcctgggag gccctggcag aagccagaac
     3721 acatggctgg gcctttccag cccaacccac tgtcttgcag tggacggaga gccttggcga
     3781 gggcagcagg gtagagagga caaagaatgt ggggctggtt tctgcccttt aagagcaccc
     3841 ggtcagtcag agaacagaga tcacacacac caaaccagac agaggcaggg cagcatggag
     3901 acaggtagac agacctccag gtccctaagc tggggacaga gaaggttctg agctgtccca
     3961 tactcccact ttgtgccaaa tgactttgca cctgcaaatg gtgcttcaat gtcgttttgt
     4021 atctttaagc tgtgatgttg tatatataca atgcctccca gctagactgt aagccctttg
     4081 gggacaaggg ctgcttccag ttcttggatg gcgttctcct atctaccttc cttcaactgc
     4141 tctgcatata ataagcactc aataaatgct catttgccaa
//
