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    AVPR2 arginine vasopressin receptor 2 [ Homo sapiens ]

    Gene ID: 554, updated on 11-May-2012
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    Summary

    Official Symbol
    AVPR2provided by HGNC
    Official Full Name
    arginine vasopressin receptor 2provided by HGNC
    Primary source
    HGNC:897
    See related
    Ensembl:ENSG00000126895; HPRD:02368; MIM:300538; Vega:OTTHUMG00000024227
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DI1; DIR; NDI; V2R; ADHR; DIR3; MGC126533; MGC138386
    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]
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    Genomic context

    Location :
    Xq28
    Sequence :
    Chromosome: X; NC_000023.10 (153167985..153172620)
    See AVPR2 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene cytochrome c, somatic pseudogene 45 Neighboring gene L1 cell adhesion molecule Neighboring gene Rho GTPase activating protein 4 Neighboring gene N(alpha)-acetyltransferase 10, NatA catalytic subunit

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus. Huang L, et al. J Pediatr Endocrinol Metab, 2011. PMID 22145481.
    2. V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists. Takahashi K, et al. J Biol Chem, 2012 Jan 13. PMID 22144672.
    3. AVPR2 gene and weight changes during triathlons. de Milander L, et al. Int J Sports Med, 2012 Jan. PMID 22052024.
    4. Expression, purification and NMR characterization of the cyclic recombinant form of the third intracellular loop of the vasopressin type 2 receptor. Bellot G, et al. Protein Expr Purif, 2011 Aug. PMID 21575724.
    5. Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. Kitahara T, et al. Acta Otolaryngol, 2011 Sep. PMID 21574774.

    See all (109) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the minor haplotype constructs of AVPR2 SNPs were associated with larger body weight losses during the Ironman Triathlons.
      Title: AVPR2 gene and weight changes during triathlons.
    2. V2R antagonists can act as protean agonists, serving as pharmacological chaperones for inactivating V2R mutants and also as inverse agonists of wild-type receptors.
      Title: V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.
    3. It is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops.
      Title: Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops.
    4. A novel missense mutation c.506T > C (p.L169P) in AVPR2 in a patient with inherited nephrogenic diabetes insipidus.
      Title: A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
    5. Overexpression of a V2R fragment corresponding to V2R-i3 as a fusion protein with thioredoxin A at the N-terminus and a hexahistidine tag between the two proteins.
      Title: Expression, purification and NMR characterization of the cyclic recombinant form of the third intracellular loop of the vasopressin type 2 receptor.
    6. no asp-lys-ile and asp-arg-tyr mutations significantly altered cAMP production and cell surface expression of V2R in these cells
      Title: The effect of aspartate-lysine-isoleucine and aspartate-arginine-tyrosine mutations on the expression and activity of vasopressin V2 receptor gene.
    7. Our study shows for the first time that renal cancer may effectively synthesize and express the V2-R.
      Title: Aquaretic inhibits renal cancer proliferation: Role of vasopressin receptor-2 (V2-R).
    8. The 12E-V2R variant has increased binding affinity for AVP, resulting in increased signal transduction, and is associated with increased levels of VWF propeptide, VWF, and FVIII.
      Title: Functional variation in the arginine vasopressin 2 receptor as a modifier of human plasma von Willebrand factor levels.
    9. study of two unrelated Thai boys with congenital nephrogenic diabetes insipidus; the novel AVPR2 mutation M311V retains partial activity and results in a milder form of nephrogenic diabetes insipidus
      Title: Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
    10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Submit: New GeneRIF Correction See all (57)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Diabetes insipidus, nephrogenic

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.
    Diagnosis Testing
    The clinical diagnosis of NDI relies on demonstration of subnormal ability to concentrate the urine despite the presence of the antidiuretic hormone, pituitary-derived arginine vasopressin (AVP). Molecular genetic testing of the two genes associated with NDI, AVPR2 (X-linked) and AQP2 (autosomal recessive and autosomal dominant), is clinically available.
    Genetic Counseling
    NDI is most commonly inherited in an X-linked manner (~90% of individuals). NDI can also be inherited in an autosomal recessive manner (~9% of individuals) or in an autosomal dominant manner (~1% of individuals). The risks to sibs and offspring depend on the mode of inheritance and the carrier status of the parents, which can be established in most families using molecular genetic testing. Prenatal testing is possible for at-risk pregnancies if the disease-causing mutation(s) have been identified in a family.
    References

    Nephrogenic syndrome of inappropriate antidiuresis

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000045.1     BIND  PubMed V2R interacts with a trimeric G protein. 
    P30518 P32121 ARRB2    HPRD  PubMed  
    P30518 P01185 AVP    HPRD  PubMed  
    P30518 Q9BXJ1 C1QTNF1    HPRD  PubMed  
    P30518 Q5JWF2 GNAS    HPRD  PubMed  
    P30518 P34947 GRK5    HPRD  PubMed  
    BioGRID:107035 BioGRID:106902 ARRB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:125388 C1QTNF1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:107035 BioGRID:122559 DERL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:109127 GRK5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:111581 MAPK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:111564 PRKCA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107035 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    vasopressin receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    G-protein signaling, coupled to cAMP nucleotide second messenger TAS
    Traceable Author Statement
    more info
    		 PubMed 
    I-kappaB kinase/NF-kappaB cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    excretion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    hemostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of urine volume IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    telencephalon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    water transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    endosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    integral to membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    vasopressin V2 receptor
    Names
    vasopressin V2 receptor
    AVPR V2
    antidiuretic hormone receptor
    renal-type arginine vasopressin receptor
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008687.1 RefSeqGene

      Range
      2558..7193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000054.4 → NP_000045.1  vasopressin V2 receptor isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC080603, Z11687
      Consensus CDS
      CCDS14735.1
      UniProtKB/Swiss-Prot
      P30518
      Related
      ENSP00000338072, ENST00000337474
      Conserved Domains (1) summary
      pfam00001
      Location:73 – 325
      Blast Score: 428
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    2. NM_001146151.1 → NP_001139623.1  vasopressin V2 receptor isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the CDS, as compared to variant 1. The resulting isoform (2) has shorter and different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF032388, BC080603, Z11687
      Consensus CDS
      CCDS55539.1
      UniProtKB/Swiss-Prot
      P30518
      Related
      ENSP00000359066, OTTHUMP00000026013, ENST00000370049, OTTHUMT00000061129
      Conserved Domains (1) summary
      pfam00001
      Location:73 – 301
      Blast Score: 372
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    RNA

    1. NR_027419.1 RNA Sequence

      Description
      Transcript Variant: This variant (3) has an additional 5' exon and lacks an internal segment, which results in a uORF, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate and is unlikely to make a functional protein.
      Source sequence(s)
      BC080603, BG830436, Z11687

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      153167985..153172620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      141789000..141824020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic CH471172.2 EAW72783.1
      EAW72784.1
      EAW72785.1
    genomic FJ411207.1 ACR39021.1
    genomic L22206.1 AAA03651.1
    genomic U04357.1 AAC09005.1
    genomic U52112.2 (58011..60102) None
    mRNA AF030626.1 AAB86428.1
    mRNA AF032388.1 AAB87678.1
    mRNA AF101727.1 AAD16444.1
    mRNA AF101728.1 AAD16445.1
    mRNA AY242131.1 AAO92298.1
    mRNA BC015746.1 None
    mRNA BC033090.1 None
    mRNA BC041642.1 None
    mRNA BC080603.1 None
    mRNA BC101484.1 AAI01485.1
    mRNA BC112181.1 AAI12182.1
    mRNA BG830436.1 None
    mRNA Z11687.1 CAA77746.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30518.1 GenPept UniProtKB/Swiss-Prot:P30518
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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