LOCUS       NM_001146151            1890 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript
            variant 2, mRNA.
ACCESSION   NM_001146151
VERSION     NM_001146151.3
KEYWORDS    RefSeq.
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 1890)
  AUTHORS   Sokrat,B., Nguyen,A.H., Thomsen,A.R.B., Huang,L.Y., Kobayashi,H.,
            Kahsai,A.W., Kim,J., Ho,B.X., Ma,S., Little,J. 4th, Ehrhart,C.,
            Pyne,I., Hammond,E. and Bouvier,M.
  TITLE     Role of the V2R-betaarrestin-Gbetagamma complex in promoting G
            protein translocation to endosomes
  JOURNAL   Commun Biol 7 (1), 826 (2024)
   PUBMED   38972875
  REMARK    GeneRIF: Role of the V2R-betaarrestin-Gbetagamma complex in
            promoting G protein translocation to endosomes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1890)
  AUTHORS   Erdem Tuncdemir,B.
  TITLE     Galphas and Galphaq/11 protein coupling bias of two AVPR2 mutants
            (R68W and V162A) that cause nephrogenic diabetes insipidus
  JOURNAL   J Recept Signal Transduct Res 42 (6), 573-579 (2022)
   PUBMED   35901021
  REMARK    GeneRIF: Galphas and Galphaq/11 protein coupling bias of two AVPR2
            mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
REFERENCE   3  (bases 1 to 1890)
  AUTHORS   Heidman,L.M., Peinetti,N., Copello,V.A. and Burnstein,K.L.
  TITLE     Exploiting Dependence of Castration-Resistant Prostate Cancer on
            the Arginine Vasopressin Signaling Axis by Repurposing Vaptans
  JOURNAL   Mol Cancer Res 20 (8), 1295-1304 (2022)
   PUBMED   35503085
  REMARK    GeneRIF: Exploiting Dependence of Castration-Resistant Prostate
            Cancer on the Arginine Vasopressin Signaling Axis by Repurposing
            Vaptans.
REFERENCE   4  (bases 1 to 1890)
  AUTHORS   Li,Q., Tian,D., Cen,J., Duan,L. and Xia,W.
  TITLE     Novel AVPR2 mutations and clinical characteristics in 28 Chinese
            families with congenital nephrogenic diabetes insipidus
  JOURNAL   J Endocrinol Invest 44 (12), 2777-2783 (2021)
   PUBMED   34101133
  REMARK    GeneRIF: Novel AVPR2 mutations and clinical characteristics in 28
            Chinese families with congenital nephrogenic diabetes insipidus.
REFERENCE   5  (bases 1 to 1890)
  AUTHORS   He,Q.T., Xiao,P., Huang,S.M., Jia,Y.L., Zhu,Z.L., Lin,J.Y.,
            Yang,F., Tao,X.N., Zhao,R.J., Gao,F.Y., Niu,X.G., Xiao,K.H.,
            Wang,J., Jin,C., Sun,J.P. and Yu,X.
  TITLE     Structural studies of phosphorylation-dependent interactions
            between the V2R receptor and arrestin-2
  JOURNAL   Nat Commun 12 (1), 2396 (2021)
   PUBMED   33888704
  REMARK    GeneRIF: Structural studies of phosphorylation-dependent
            interactions between the V2R receptor and arrestin-2.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1890)
  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   7  (bases 1 to 1890)
  AUTHORS   van den Ouweland,A.M., Dreesen,J.C., Verdijk,M., Knoers,N.V.,
            Monnens,L.A., Rocchi,M. and van Oost,B.A.
  TITLE     Mutations in the vasopressin type 2 receptor gene (AVPR2)
            associated with nephrogenic diabetes insipidus
  JOURNAL   Nat Genet 2 (2), 99-102 (1992)
   PUBMED   1303271
REFERENCE   8  (bases 1 to 1890)
  AUTHORS   Pan,Y., Metzenberg,A., Das,S., Jing,B. and Gitschier,J.
  TITLE     Mutations in the V2 vasopressin receptor gene are associated with
            X-linked nephrogenic diabetes insipidus
  JOURNAL   Nat Genet 2 (2), 103-106 (1992)
   PUBMED   1303257
REFERENCE   9  (bases 1 to 1890)
  AUTHORS   Rosenthal,W., Seibold,A., Antaramian,A., Lonergan,M., Arthus,M.F.,
            Hendy,G.N., Birnbaumer,M. and Bichet,D.G.
  TITLE     Molecular identification of the gene responsible for congenital
            nephrogenic diabetes insipidus
  JOURNAL   Nature 359 (6392), 233-235 (1992)
   PUBMED   1356229
REFERENCE   10 (bases 1 to 1890)
  AUTHORS   van den Ouweland,A.M., Knoop,M.T., Knoers,V.V., Markslag,P.W.,
            Rocchi,M., Warren,S.T., Ropers,H.H., Fahrenholz,F., Monnens,L.A.
            and van Oost,B.A.
  TITLE     Colocalization of the gene for nephrogenic diabetes insipidus (DIR)
            and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region
  JOURNAL   Genomics 13 (4), 1350-1352 (1992)
   PUBMED   1324225
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52112.2.
            
            On May 2, 2019 this sequence version replaced NM_001146151.2.
            
            Summary: This gene encodes the vasopressin receptor, type 2, also
            known as the V2 receptor, which belongs to the
            seven-transmembrane-domain G protein-coupled receptor (GPCR)
            superfamily, and couples to Gs thus stimulating adenylate cyclase.
            The subfamily that includes the V2 receptor, the V1a and V1b
            vasopressin receptors, the oxytocin receptor, and isotocin and
            mesotocin receptors in non-mammals, is well conserved, though
            several members signal via other G proteins. All bind similar
            cyclic nonapeptide hormones. The V2 receptor is expressed in the
            kidney tubule, predominantly in the distal convoluted tubule and
            collecting ducts, where its primary property is to respond to the
            pituitary hormone arginine vasopressin (AVP) by stimulating
            mechanisms that concentrate the urine and maintain water
            homeostasis in the organism. When the function of this gene is
            lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The
            V2 receptor is also expressed outside the kidney although its
            tissue localization is uncertain. When these 'extrarenal receptors'
            are stimulated by infusion of a V2 selective agonist (dDAVP), a
            variety of clotting factors are released into the bloodstream. The
            physiologic importance of this property is not known - its absence
            does not appear to be detrimental in NDI patients. The gene
            expression has also been described in fetal lung tissue and lung
            cancer associated with alternative splicing. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BI820082.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                U52112.2           57651-57708
            59-255              U52112.2           57911-58107
            256-1890            U52112.2           58469-60103
FEATURES             Location/Qualifiers
     source          1..1890
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1890
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="arginine vasopressin receptor 2"
                     /db_xref="GeneID:554"
                     /db_xref="HGNC:HGNC:897"
                     /db_xref="MIM:300538"
     exon            1..58
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /inference="alignment:Splign:2.1.0"
     exon            59..255
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1160
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="isoform 2 is encoded by transcript variant 2;
                     vasopressin V2 receptor; AVPR V2; antidiuretic hormone
                     receptor; renal-type arginine vasopressin receptor"
                     /codon_start=1
                     /product="vasopressin V2 receptor isoform 2"
                     /protein_id="NP_001139623.1"
                     /db_xref="CCDS:CCDS55539.1"
                     /db_xref="GeneID:554"
                     /db_xref="HGNC:HGNC:897"
                     /db_xref="MIM:300538"
                     /translation="MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALL
                     SIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKAT
                     DRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
                     LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPT
                     LGIAACQVLIFREIHASLVPGPSERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVI
                     VVVYVLCWAPFFLVQLWAAWDPEAPLEGGCSRG"
     exon            256..1890
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1864..1869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="hexamer: AATAAA"
     polyA_site      1890
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="major polyA site"
ORIGIN      
        1 agatctgagc acccagccac cttcacgcca ccgcccagct gcccaggagc ccagccagga
       61 ctggccatac tgccaccgac acgtgcacac acgccaacag gcatctgcca tgctggcatc
      121 tctataaggg ctccagtcca gagaccctgg gccattgaac ttgctcctca ggcagaggct
      181 gagtccgcac atcacctcca ggccctcaga acacctgccc cagccccacc atgctcatgg
      241 cgtccaccac ttccgctgtg cctgggcatc cctctctgcc cagcctgccc agcaacagca
      301 gccaggagag gccactggac acccgggacc cgctgctagc ccgggcggag ctggcgctgc
      361 tctccatagt ctttgtggct gtggccctga gcaatggcct ggtgctggcg gccctagctc
      421 ggcggggccg gcggggccac tgggcaccca tacacgtctt cattggccac ttgtgcctgg
      481 ccgacctggc cgtggctctg ttccaagtgc tgccccagct ggcctggaag gccaccgacc
      541 gcttccgtgg gccagatgcc ctgtgtcggg ccgtgaagta tctgcagatg gtgggcatgt
      601 atgcctcctc ctacatgatc ctggccatga cgctggaccg ccaccgtgcc atctgccgtc
      661 ccatgctggc gtaccgccat ggaagtgggg ctcactggaa ccggccggtg ctagtggctt
      721 gggccttctc gctccttctc agcctgcccc agctcttcat cttcgcccag cgcaacgtgg
      781 aaggtggcag cggggtcact gactgctggg cctgctttgc ggagccctgg ggccgtcgca
      841 cctatgtcac ctggattgcc ctgatggtgt tcgtggcacc taccctgggt atcgccgcct
      901 gccaggtgct catcttccgg gagattcatg ccagtctggt gccagggcca tcagagaggc
      961 ctggggggcg ccgcagggga cgccggacag gcagccccgg tgagggagcc cacgtgtcag
     1021 cagctgtggc caagactgtg aggatgacgc tagtgattgt ggtcgtctat gtgctgtgct
     1081 gggcaccctt cttcctggtg cagctgtggg ccgcgtggga cccggaggca cctctggaag
     1141 gtgggtgtag ccgtggctag ggctgacggg gccacttggg cttggccgca tgcccctgtg
     1201 ccccaccagc catcctgaac ccaacctaga tcctccacct ccacaggggc gccctttgtg
     1261 ctactcatgt tgctggccag cctcaacagc tgcaccaacc cctggatcta tgcatctttc
     1321 agcagcagcg tgtcctcaga gctgcgaagc ttgctctgct gtgcccgggg acgcacccca
     1381 cccagcctgg gtccccaaga tgagtcctgc accaccgcca gctcctccct ggccaaggac
     1441 acttcatcgt gaggagctgt tgggtgtctt gcctctagag gctttgagaa gctcagctgc
     1501 cttcctgggg ctggtcctgg gagccactgg gagggggacc cgtggagaat tggccagagc
     1561 ctgtggcccc gaggctggga cactgtgtgg ccctggacaa gccacagccc ctgcctgggt
     1621 ctccacatcc ccagctgtat gaggagagct tcaggcccca ggactgtggg ggcccctcag
     1681 gtcagctcac tgagctgggt gtaggagggg ctgcagcaga ggcctgagga gtggcaggaa
     1741 agagggagca ggtgccccca ggtgagacag cggtcccagg ggcctgaaaa ggaaggacca
     1801 ggctggggcc aggggacctt cctgtctccg cctttctaat ccctccctcc tcattctctc
     1861 cctaataaaa attggagctc attttccaca
//
