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

Gene ID: 554, updated on 21-Jun-2020

Summary

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
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]
Expression
Broad expression in fat (RPKM 2.2), kidney (RPKM 1.4) and 15 other tissues See more
Orthologs

Genomic context

See AVPR2 in Genome Data Viewer
Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (153902625..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 CYCS 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126533, MGC138386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
vasopressin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vasopressin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
vasopressin receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
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 
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 cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
regulation of systemic arterial blood pressure by vasopressin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
renal water homeostasis TAS
Traceable Author Statement
more info
 
response to cytokine IEA
Inferred from Electronic Annotation
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
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

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
    4741..7193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000054.6NP_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
    P30518
    Related
    ENSP00000496396.1, ENST00000646375.1
    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_001146151.3NP_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:55302
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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