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

    Gene ID: 554, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:897
    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; NDI1
    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]
    Expression
    Broad expression in fat (RPKM 2.2), kidney (RPKM 1.4) and 15 other tissues See more
    Orthologs
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    Genomic context

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    See AVPR2 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153902625..153907166)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152176300..152180878)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153168079..153172620)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:153110079-153110947 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:153110948-153111815 Neighboring gene CYCS pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153128028-153128886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153128887-153129745 Neighboring gene L1 cell adhesion molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153147023-153148020 Neighboring gene L1CAM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153174367-153175060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153175061-153175753 Neighboring gene Rho GTPase activating protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153186395-153186896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153188877-153189377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21075 Neighboring gene N-alpha-acetyltransferase 10, NatA catalytic subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of the V2R-betaarrestin-Gbetagamma complex in promoting G protein translocation to endosomes.
      Title: Role of the V2R-βarrestin-Gβγ complex in promoting G protein translocation to endosomes.
    2. Galphas and Galphaq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
      Title: Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
    3. Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
      Title: Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
    4. Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
      Title: Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
    5. Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.
      Title: Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.
    6. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
      Title: AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
    7. Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2.
      Title: Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2.
    8. Epithelial Vasopressin Type-2 Receptors Regulate Myofibroblasts by a YAP-CCN2-Dependent Mechanism in Polycystic Kidney Disease.
      Title: Epithelial Vasopressin Type-2 Receptors Regulate Myofibroblasts by a YAP-CCN2-Dependent Mechanism in Polycystic Kidney Disease.
    9. The Vasopressin Receptor 2 Mutant R137L Linked to the Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Signals through an Alternative Pathway that Increases AQP2 Membrane Targeting Independently of S256 Phosphorylation.
      Title: The Vasopressin Receptor 2 Mutant R137L Linked to the Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Signals through an Alternative Pathway that Increases AQP2 Membrane Targeting Independently of S256 Phosphorylation.
    10. Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors.
      Title: Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors.
    Submit: New GeneRIF Correction See all GeneRIFs (103)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-01)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-01)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126533, MGC138386

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables vasopressin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables vasopressin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables vasopressin receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hemostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasoconstriction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of systemic arterial blood pressure by vasopressin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in renal water retention TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to cytokine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in telencephalon development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    vasopressin V2 receptor
    Names
    AVPR V2
    antidiuretic hormone receptor
    renal-type arginine vasopressin receptor

    NCBI Reference Sequences (RefSeq)

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    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
      4700..7193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_716

    mRNA and Protein(s)

    1. NM_000054.7 → NP_000045.1  vasopressin V2 receptor isoform 1

      See identical proteins and their annotated locations for NP_000045.1

      Status: REVIEWED

      Source sequence(s)
      U52112
      Consensus CDS
      CCDS14735.1
      UniProtKB/Swiss-Prot
      C5HF20, O43192, P30518, Q3MJD3, Q9UCV9
      Related
      ENSP00000496396.1, ENST00000646375.2
      Conserved Domains (1) summary
      cd15388
      Location:45 → 326
      7tmA_V2R; vasopressin receptor 2, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001146151.3 → NP_001139623.1  vasopressin V2 receptor isoform 2

      See identical proteins and their annotated locations for NP_001139623.1

      Status: REVIEWED

      Source sequence(s)
      U52112
      Consensus CDS
      CCDS55539.1
      UniProtKB/Swiss-Prot
      P30518
      Related
      ENSP00000359066.1, ENST00000370049.1
      Conserved Domains (1) summary
      pfam00001
      Location:55 → 302
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    RNA

    1. NR_027419.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      U52112
      Related
      ENST00000434679.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153902625..153907166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152176300..152180878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30518.1 GenPept UniProtKB/Swiss-Prot:P30518

    Gene LinkOut

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

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