LOCUS       NP_000045                371 aa            linear   PRI 01-MAY-2025
DEFINITION  vasopressin V2 receptor isoform 1 [Homo sapiens].
ACCESSION   NP_000045 XP_006724891
VERSION     NP_000045.1
DBSOURCE    REFSEQ: accession NM_000054.7
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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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  (residues 1 to 371)
  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 (residues 1 to 371)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 2, 2019 this sequence version replaced XP_006724891.1.
            
            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 :: SRR14038191.3697730.1,
                                           DRR138524.255899.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000646375.2/ ENSP00000496396.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..371
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..371
                     /product="vasopressin V2 receptor isoform 1"
                     /note="vasopressin V2 receptor; AVPR V2; antidiuretic
                     hormone receptor; renal-type arginine vasopressin
                     receptor"
                     /calculated_mol_wt=40148
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Site            22
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P30518.1)"
     Site            39..63
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Region          45..326
                     /region_name="7tmA_V2R"
                     /note="vasopressin receptor 2, member of the class A
                     family of seven-transmembrane G protein-coupled receptors;
                     cd15388"
                     /db_xref="CDD:320510"
     Region          74..101
                     /region_name="TM helix 2"
                     /note="TM helix 2 [structural motif]"
                     /db_xref="CDD:320510"
     Site            78..98
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Site            order(97,100..101,112..117,119..120,123,168,170..174,202,
                     205..207,209..211,213..214,284,287..288,290..291,294,
                     303..304,306..308,311,314..315)
                     /site_type="other"
                     /note="putative peptide ligand binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:320510"
     Region          112..142
                     /region_name="TM helix 3"
                     /note="TM helix 3 [structural motif]"
                     /db_xref="CDD:320510"
     Site            114..135
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Region          155..176
                     /region_name="TM helix 4"
                     /note="TM helix 4 [structural motif]"
                     /db_xref="CDD:320510"
     Site            160..180
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Site            201..220
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Region          202..231
                     /region_name="TM helix 5"
                     /note="TM helix 5 [structural motif]"
                     /db_xref="CDD:320510"
     Region          240..259
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Region          264..294
                     /region_name="TM helix 6"
                     /note="TM helix 6 [structural motif]"
                     /db_xref="CDD:320510"
     Site            272..293
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Region          304..326
                     /region_name="TM helix 7"
                     /note="TM helix 7 [structural motif]"
                     /db_xref="CDD:320510"
     Site            309..328
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     Region          349..371
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1)"
     CDS             1..371
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /coded_by="NM_000054.7:272..1387"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14735.1"
                     /db_xref="GeneID:554"
                     /db_xref="HGNC:HGNC:897"
                     /db_xref="MIM:300538"
ORIGIN      
        1 mlmasttsav pghpslpslp snssqerpld trdpllarae lallsivfva valsnglvla
       61 alarrgrrgh wapihvfigh lcladlaval fqvlpqlawk atdrfrgpda lcravkylqm
      121 vgmyassymi lamtldrhra icrpmlayrh gsgahwnrpv lvawafslll slpqlfifaq
      181 rnveggsgvt dcwacfaepw grrtyvtwia lmvfvaptlg iaacqvlifr eihaslvpgp
      241 serpggrrrg rrtgspgega hvsaavaktv rmtlvivvvy vlcwapfflv qlwaawdpea
      301 plegapfvll mllaslnsct npwiyasfss svsselrsll ccargrtpps lgpqdesctt
      361 assslakdts s
//
