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    AVPR2 arginine vasopressin receptor 2 [ Homo sapiens (human) ]

    Gene ID: 554, updated on 6-Sep-2017
    Official Symbol
    AVPR2provided by HGNC
    Official Full Name
    arginine vasopressin receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:897
    See related
    Ensembl:ENSG00000126895 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
    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]
    Orthologs
    Location:
    Xq28
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (153902531..153907166)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153167985..153172620)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cytochrome c, somatic pseudogene 45 Neighboring gene L1 cell adhesion molecule Neighboring gene lung carcinoma-associated 10 Neighboring gene Rho GTPase activating protein 4 Neighboring gene N(alpha)-acetyltransferase 10, NatA catalytic subunit

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Nephrogenic diabetes insipidus, X-linked
    MedGen: C1563705 OMIM: 304800 GeneReviews: Nephrogenic Diabetes Insipidus
    Compare labs
    Nephrogenic syndrome of inappropriate antidiuresis
    MedGen: C1845202 OMIM: 300539 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
      Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
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      Arf6 trafficking events, organism-specific biosystem
      Arf6 trafficking events
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      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
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      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Defective AVP causes neurohypophyseal diabetes insipidus (NDI), organism-specific biosystem (from REACTOME)
      Defective AVP causes neurohypophyseal diabetes insipidus (NDI), organism-specific biosystemArginine vasopressin (AVP(20-28)) is a 9 amino-acid long signal peptide produced by cleavage of the precursor protein AVP in the hypothalamus. It mediates the reabsorption of water in the kidney and ...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
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      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
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    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
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    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
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    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
      Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
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    • Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126533, MGC138386

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    vasopressin receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    membrane organization TAS
    Traceable Author Statement
    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 protein ubiquitination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vasoconstriction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of systemic arterial blood pressure by vasopressin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    response to cytokine IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    telencephalon development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    vasopressin V2 receptor
    Names
    AVPR V2
    antidiuretic hormone receptor
    renal-type arginine vasopressin receptor

    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
      5102..7193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000045.1

      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
      ENSP00000338072.5, ENST00000337474.5
      Conserved Domains (1) summary
      cd15388
      Location:45326
      7tmA_V2R; vasopressin receptor 2, member of the class A family of seven-transmembrane G protein-coupled receptors
    2. NM_001146151.1NP_001139623.1  vasopressin V2 receptor isoform 2

      See identical proteins and their annotated locations for NP_001139623.1

      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
      ENSP00000359066.1, OTTHUMP00000026013, ENST00000370049.1, OTTHUMT00000061129
      Conserved Domains (1) summary
      pfam00001
      Location:55302
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    RNA

    1. NR_027419.1 RNA Sequence

      Status: REVIEWED

      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
      Related
      ENST00000434679.5, OTTHUMT00000061128

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      153902531..153907166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724828.3XP_006724891.1  vasopressin V2 receptor isoform X1

      See identical proteins and their annotated locations for XP_006724891.1

      UniProtKB/Swiss-Prot
      P30518
      Related
      ENSP00000351805.2, OTTHUMP00000026011, ENST00000358927.6, OTTHUMT00000061127
      Conserved Domains (1) summary
      cd15388
      Location:45326
      7tmA_V2R; vasopressin receptor 2, member of the class A family of seven-transmembrane G protein-coupled receptors

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      153042396..153047068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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