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

Gene ID: 554, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153902625..153907166)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152176300..152180878)
105.20220307 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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Related articles in PubMed

  1. Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus. Erdem Tuncdemir B. J Recept Signal Transduct Res, 2022 Dec. PMID 35901021
  2. A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation. Zang L, et al. Biomed Res Int, 2022. PMID 35865667, Free PMC Article
  3. Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus. Li Q, et al. J Endocrinol Invest, 2021 Dec. PMID 34101133
  4. Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis. Lopez E, et al. Pharmacol Res, 2021 Jan. PMID 33160069, Free PMC Article
  5. Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation. Prosperi F, et al. Sci Rep, 2020 Oct 2. PMID 33009446, Free PMC Article

See all (165) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.
    Title: Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
    Title: A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Submit: New GeneRIF Correction See all GeneRIFs (102)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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)

Genotypes

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 peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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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