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AVPR2 Gene

protein-coding   GIFtS: 73
GCID: GC0XP153167

Arginine Vasopressin Receptor 2


(Previous symbols: DIR3, DIR)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arginine Vasopressin Receptor 21 2     V2R2 3
DIR1 2 3 5     AVPR V22 3
DIR31 2 3     DI12 5
ADHR2 3 5     Nephrogenic Diabetes Insipidus1
Antidiuretic Hormone Receptor2 3     NDI2
Renal-Type Arginine Vasopressin Receptor2 3     Vasopressin V2 Receptor2

External Ids:    HGNC: 8971   Entrez Gene: 5542   Ensembl: ENSG000001268957   OMIM: 3005385   UniProtKB: P305183   

Export aliases for AVPR2 gene to outside databases

Previous GC identifers: GC0XP147305 GC0XP149625 GC0XP150753 GC0XP151635 GC0XP152688 GC0XP152823 GC0XP141789


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AVPR2 Gene:
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)

GeneCards Summary for AVPR2 Gene:
AVPR2 (arginine vasopressin receptor 2) is a protein-coding gene. Diseases associated with AVPR2 include diabetes insipidus, and nephrogenic syndrome of inappropriate antidiuresis. GO annotations related to this gene include vasopressin receptor activity. An important paralog of this gene is GPR150.

UniProtKB/Swiss-Prot: V2R_HUMAN, P30518
Function: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which
activate adenylate cyclase. Involved in renal water reabsorption

summary for AVPR2 Gene:
Vasopressin receptors are a group of G-protein-coupled receptors that mediate vasoconstriction, antidiuresis
and ACTH release. They are currently divided into three subtypes, V1A, V1B and V2 and are closely related to
oxytocin receptors (OT). V1A is coupled to Gq/11 proteins and is found at high density on smooth muscle
cells. It is involved in regulation of blood pressure through arterial vasoconstriction and has been found
to stimulate VEGF secretion. V1B is located in the hypothalamus, where it controls ACTH secretion, and in
the pancreas, where it is involved in insulin release. V2 is coupled to Gs proteins and is found exclusively
on the basolateral membrane of collecting duct cells in the kidney, where it regulates water excretion.

Gene Wiki entry for AVPR2 (Arginine vasopressin receptor 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AVPR2 gene promoter:
         CREB   ATF-2   deltaCREB   c-Jun   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AVPR2 promoter sequence
   Search Chromatin IP Primers for AVPR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AVPR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

AVPR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AVPR2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153167:  view genomic region     (about GC identifiers)

Start:
153,167,985 bp from pter      End:
153,172,620 bp from pter
Size:
4,636 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: V2R_HUMAN, P30518 (See protein sequence)
Recommended Name: Vasopressin V2 receptor  
Size: 371 amino acids; 40279 Da
1 PDB 3D structure from and Proteopedia for AVPR2:
4JQI (3D)    
Secondary accessions: C5HF20 O43192 Q3MJD3 Q9UCV9
Alternative splicing: 2 isoforms:  P30518-1   P30518-2   

Explore the universe of human proteins at neXtProt for AVPR2: NX_P30518

Explore proteomics data for AVPR2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn22
  • Modification sites at PhosphoSitePlus

  • See AVPR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000045.1  NP_001139623.1  

    ENSEMBL proteins: 
     ENSP00000393397   ENSP00000351805   ENSP00000393513   ENSP00000359066   ENSP00000338072  
    Reactome Protein details: P30518

    AVPR2 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant AVPR2 Protein
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    OriGene Protein Over-expression Lysate for AVPR2
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    AVPR2 Antibody Products:

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    Cloud-Clone Corp. CLIAs for AVPR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AVPR: GPCR / Class A : Vasopressin and oxytocin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: V2 receptor
    Vasopressin and oxytocin receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000161 Vprsn_rcpt_V2
     IPR000276 GPCR_Rhodpsn
     IPR001817 Vasoprsn_rcpt

    Graphical View of Domain Structure for InterPro Entry P30518

    ProtoNet protein and cluster: P30518

    2 Blocks protein domains:
    IPB000161 Vasopressin V2 receptor signature
    IPB001817 Vasopressin receptor signature


    UniProtKB/Swiss-Prot: V2R_HUMAN, P30518
    Similarity: Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily


    AVPR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: V2R_HUMAN, P30518
    Function: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which
    activate adenylate cyclase. Involved in renal water reabsorption

         Genatlas biochemistry entry for AVPR2:
    vasopressin renal V2-type receptor,G protein coupled receptor superfamily

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0005000vasopressin receptor activity TAS8882880
    GO:0005515protein binding IPI12409230
         
    AVPR2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AVPR2:
     Decreased Salmonella enterica   Decreased substrate adherent c 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Avpr2):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  integument 
     mortality/aging  renal/urinary system 

    AVPR2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AVPR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AVPR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AVPR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AVPR2

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate AVPR2:
    hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidAVPR2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AVPR2

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    GenScript: all cDNA clones in your preferred vector (see all 2): AVPR2 (NM_000054)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AVPR2
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVPR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    V2R_HUMAN, P30518: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum4
    endosome4
    golgi apparatus4
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome TAS10858434
    GO:0005783endoplasmic reticulum TAS10880054
    GO:0005794Golgi apparatus TAS10880054
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1303257

    AVPR2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AVPR2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    Peptide ligand-binding receptors0.60
    Vasopressin-like receptors0.00
    2Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Aquaporin-mediated transport0.85
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for AVPR2
        GPCRs, Class A Rhodopsin-like
    Arf6 trafficking events
    Peptide GPCRs

    3 Reactome Pathways for AVPR2
        Vasopressin-like receptors
    Regulation of water balance by renal Aquaporins
    G alpha (s) signalling events


    2 Kegg Pathways  (Kegg details for AVPR2):
        Neuroactive ligand-receptor interaction
    Vasopressin-regulated water reabsorption


    AVPR2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AVPR2: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AVPR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AVPR2 (P305183 ENSP000003380724) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB2P321213, ENSP000002692604I2D: score=2 STRING: ENSP00000269260
    C1QTNF1Q9BXJ13, ENSP000003408644I2D: score=2 STRING: ENSP00000340864
    AVPP011853, ENSP000003696474I2D: score=1 STRING: ENSP00000369647
    DERL1Q9BUN83, ENSP000002595124I2D: score=1 STRING: ENSP00000259512
    GNASQ5JWF23, ENSP000003601414I2D: score=1 STRING: ENSP00000360141
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003084positive regulation of systemic arterial blood pressure IEA--
    GO:0006833water transport TAS--
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS10880054
    GO:0007190activation of adenylate cyclase activity TAS9224808

    AVPR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for AVPR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    d[Leu4,Lys8]-VP Selective V1B agonist[42061-33-6]
    [Arg8]-VasopressinAntidiuretic hormone[113-79-1]
    SR 49059 Selective, orally active vasopressin V1A receptor antagonist [150375-75-0]
    DesmopressinSynthetic vasopressin analog; V1B and V2 agonist[16679-58-6]
    (d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin Selective vasopressin V1A antagonist[73168-24-8]

    1 HMDB Compound for AVPR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Vasopressin3-(Phenylalanine)-8-lysine oxytocin (see all 8)11000-17-2--

    5 DrugBank Compounds for AVPR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ConivaptanConivaptan hydrochloride (see all 3)210101-16-9targetantagonist19057376 17592003 16843091 17202666 20054444 19695403 11752352 17919259 19663609 16522696 17428103 15659304
    Vasopressin3-Isoleucyl vasopressin (see all 8)11000-17-2targetagonist11752352 17020465 16563128 16333859 17287200
    TerlipressinN-(N-(N-Glycylglycyl)glycyl)-8-L-lysinevasopressin (see all 4)14636-12-5targetagonist17020465 16563128 16333859 17287200
    Desmopressin1-Desamino-8-D-arginine vasopressin (see all 4)16679-58-6targetagonist16333859 11752352 18761325
    Tolvaptan-- 150683-30-0targetantagonist20868352 19337422

    Selected IUPHAR Ligands for AVPR2 (V2 receptor) (see all 55)    About this table
    LigandTypeActionAffinityPubmed IDs
    tolvaptan
    AntagonistAntagonist9.49864265
    [3H]AVP
    AgonistFull agonist8.4 - 9.411429400 9884074 9264324 10866830 9322919 10780976 9459574 9864265 9792651 7774575
    SR 121463A
    AntagonistAntagonist8.4 - 9.311429400 9884074 8981918 10866830 10519430 9792651 11012895
    [3H]SR 121463A
    AntagonistInverse agonist8.39 - 9.39792651 8981918
    lixivaptan
    AntagonistInverse agonist8.9 - 9.29651149 11012895
    conivaptan
    AntagonistAntagonist8.7 - 9.29884074 11012895
    [3H]dDAVP
    AgonistFull agonist7.2 - 9.19322919 7774575 9792651
    d(CH2)5[D-Tyr(Et)2,Val4,Tyr-NH29]AVP
    AntagonistAntagonist9.110866830
    [125I]d(CH2)5[D-Tyr(Et)2,Val4,Tyr-NH29]AVP
    AntagonistAntagonist9.19792651
    [125I]d(CH2)5[D-Tyr(Et)2,Ile4,Tyr-NH29]AVP
    AntagonistAntagonist9.19792651

    Selected Novoseek inferred chemical compound relationships for AVPR2 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tolvaptan 90.2 11 17543634 (2), 16782344 (1), 17384437 (1), 17384438 (1) (see all 10)
    opc31260 81 1 14502283 (1)
    conivaptan 79 5 19151543 (1), 17592003 (1), 10638391 (1)
    desmopressin 77.9 27 17626156 (2), 16333859 (2), 11932296 (2), 10880054 (1) (see all 16)
    arginine 75.9 67 11181969 (2), 11920339 (2), 17115194 (2), 12509923 (2) (see all 36)
    lixivaptan 69.5 1 16630999 (1)
    sodium 50.7 16 15888562 (3), 19996159 (2), 16713495 (1), 16093448 (1) (see all 6)
    atosiban 48.3 1 15740719 (1)
    adenylate 19.7 2 1646825 (1), 18413781 (1)
    cyclic amp 18.5 2 7640759 (1), 7939338 (1)



    AVPR2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AVPR2 gene (2 alternative transcripts): 
    NM_000054.4  NM_001146151.1  

    Unigene Cluster for AVPR2:

    Arginine vasopressin receptor 2
    Hs.567240  [show with all ESTs]
    Unigene Representative Sequence: NM_001146151
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434679(uc004fjg.4) ENST00000358927(uc004fjh.4 uc004fji.3)
    ENST00000430697 ENST00000370049 ENST00000337474
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate AVPR2:
    hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidAVPR2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): AVPR2 (NM_000054)
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      QuantiTect SYBR Green Assays in human, mouse, rat AVPR2
      QuantiFast Probe-based Assays in human, mouse, rat AVPR2

    Additional mRNA sequence: 

    AF030626.1 AF032388.1 AF101727.1 AF101728.1 AY242131.1 BC015746.1 BC033090.1 BC041642.1 
    BC080603.1 BC101484.1 BC112181.1 NR_027419.1 Z11687.1 

    3 DOTS entries:

    DT.209395  DT.101979146  DT.92417095 

    24 AceView cDNA sequences:

    AF030626 AF032388 AF101727 AY242131 Z11687 AF101728 BX096795 BI161438 
    BV183233 BI820082 BC015746 BI161076 BC080603 BC041642 NM_000054 BC033090 
    BV198946 BI160709 BV194384 BI824481 BG830436 W16888 N89581 CD246192 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AVPR2    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c
    SP1:                          -                           
    SP2:                                                      
    SP3:                                                      


    ECgene alternative splicing isoforms for AVPR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AVPR2 expression in normal human tissues (normalized intensities)      AVPR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCTGGCCA
    AVPR2 Expression
    About this image


    AVPR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Ureteric Bud Cells Ureteric Bud
    AVPR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AVPR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567240

    UniProtKB/Swiss-Prot: V2R_HUMAN, P30518
    Tissue specificity: Kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AVPR2: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Primary Cilia in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AVPR2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Avpr21 , 5 arginine vasopressin receptor 21, 5 83.65(n)1
    87.6(a)1
      X (37.46 cM)5
    120001  NM_019404.21  NP_062277.11 
     738921025 
    chicken
    (Gallus gallus)
    Aves AVPR26
    Gallus gallus arginine vasopressin receptor 2 (AVP...
    39(a)
    1 ↔ 1
    1(28447448-28454542)
    lizard
    (Anolis carolinensis)
    Reptilia AVPR26
    arginine vasopressin receptor 2
    56(a)
    1 ↔ 1
    2(88186002-88196150)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004870511 vasopressin V2 receptor-like 58.26(n)
    56.76(a)
      100487051  XM_002937233.2  XP_002937279.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001515021 vasopressin V2 receptor-like 64.21(n)
    60.58(a)
      100151502  XM_001922007.4  XP_001922042.4 


    ENSEMBL Gene Tree for AVPR2 (if available)
    TreeFam Gene Tree for AVPR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AVPR2 gene
    GPR1502  AVPR1A2  AVPR1B2  OXTR2  GNRHR2  NPSR12  
    6 SIMAP similar genes for AVPR2 using alignment to 3 protein entries:     V2R_HUMAN (see all proteins):
    AVPR1    AVPR1A    GNRHR2    AVPR1B    OXTR    NPSR1

    AVPR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AVPR2 (see all 301)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289354961,2,,4
    CDiabetes insipidus, nephrogenic, X-linked (XNDI)4 pathogenic1153039348(+) TGTGTC/TGGGCC 5 R W mis1 int1 ese30--------
    VAR_0153444
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0153442 L P mis40--------
    VAR_0035234
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0035232 C R mis40--------
    VAR_0035344
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0035342 R C mis40--------
    VAR_0035364
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0035362 R C mis40--------
    VAR_0035264
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0035262 Y S mis40--------
    VAR_0153464
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0153462 L R mis40--------
    VAR_0035434
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0035432 P L mis40--------
    VAR_0153334
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0153332 F S mis40--------
    VAR_0153514
    Diabetes insipidus, nephrogenic, X-linked (XNDI)4--see VAR_0153512 N K mis40--------

    HapMap Linkage Disequilibrium report for AVPR2 (153167985 - 153172620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for AVPR2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33199CNV Gain+Loss17666407
    nsv469867CNV Complex16826518

    Human Gene Mutation Database (HGMD): AVPR2
    Locus Specific Mutation Databases (LSDB): AVPR2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300538   
    OMIM disorders: 304800  300539  
    UniProtKB/Swiss-Prot: V2R_HUMAN, P30518
  • Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]: Characterized by an inability to
    excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity,
    and natriuresis. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]: A disorder caused by the inability of the
    renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water
    drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for AVPR2 (see all 35):    About MalaCards
    diabetes insipidus    nephrogenic syndrome of inappropriate antidiuresis    nephrogenic diabetes insipidus    inappropriate adh syndrome
    neonatal candidiasis    neurohypophyseal diabetes insipidus    l1 syndrome    endolymphatic sac tumor
    radiculopathy    endolymphatic hydrops    acth-independent macronodular adrenal hyperplasia    cushing's syndrome
    hypercalcemia    hypokalemia    candidiasis    cerebral palsy
    intellectual disability    lung cancer    hydrocephalus    polycystic kidney disease

    6 diseases from the University of Copenhagen DISEASES database for AVPR2:
    Nephrogenic diabetes insipidus     Inappropriate ADH syndrome     Diabetes insipidus     Neurohypophyseal diabetes insipidus
    Cerebral palsy     Neonatal candidiasis

    AVPR2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AVPR2 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes insipidus nephrogenic 97.4 142 17216256 (3), 11754100 (2), 19703807 (2), 9711877 (2) (see all 85)
    antidiuresis 83.4 5 18753429 (2), 9024277 (1), 17308414 (1), 17229917 (1)
    diabetes insipidus, nephrogenic, autosomal recessive 80.9 2 7541187 (1)
    hyponatremia 77.1 21 20102356 (2), 9327205 (2), 19151543 (1), 9834976 (1) (see all 18)
    siadh 73.3 1 18753429 (1)
    central diabetes insipidus 72.3 6 19170711 (1), 7698346 (1), 7541187 (1), 16093448 (1)
    arpkd 57.4 1 17160262 (1)
    heart failure 40.9 11 16036044 (2), 10505693 (1), 9834976 (1), 16630999 (1) (see all 9)
    rare disease 37.1 12 9773787 (1), 9251762 (1), 8037205 (1), 9302264 (1) (see all 8)
    cirrhosis 37 6 20102356 (2), 10728802 (1), 12671890 (1), 19271430 (1)

    GeneTests: AVPR2
    GeneReviews: AVPR2
    Genetic Association Database (GAD): AVPR2
    Human Genome Epidemiology (HuGE) Navigator: AVPR2 (7 documents)

    Export disorders for AVPR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AVPR2 gene, integrated from 10 sources (see all 297):
    (articles sorted by number of sources associating them with AVPR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations. (PubMed id 19996159)1, 4, 9 Fu Y....Cohen D.M. (Physiol. Genomics 2010)
    2. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PubMed id 16845277)1, 2, 9 Carroll P.... Meyer B.F. (Genet. Med. 2006)
    3. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. (PubMed id 17020465)1, 7, 9 Boson W.L....De Marco L. (Genet. Test. 2006)
    4. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. (PubMed id 9711877)1, 2, 9 Schoeneberg T.... Schultz G. (Hum. Mutat. 1998)
    5. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. (PubMed id 9402087)1, 2, 9 Vargas-Poussou R.... Antignac C. (J. Am. Soc. Nephrol. 1997)
    6. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. (PubMed id 11916004)1, 2, 9 Chen C.H.... Hsiao K.J. (J. Hum. Genet. 2002)
    7. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. (PubMed id 1303271)1, 2, 9 van den Ouweland A.M.W.... van Oost B.A. (Nat. Genet. 1992)
    8. Investigation of mechanism of desmopressin binding in vasopressin V2 receptor versus vasopressin V1a and oxytocin receptors: molecular dynamics simulation of the agonist-bound state in the membrane-aqueous system. (PubMed id 16333859)1, 7, 9 Slusarz M.J....Ciarkowski J. (Biopolymers 2006)
    9. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PubMed id 8037205)1, 2, 9 Bichet D.G.... Morgan K. (Am. J. Hum. Genet. 1994)
    10. Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus. (PubMed id 11026555)1, 2, 9 Postina R.... Fahrenholz F. (Mol. Cell. Endocrinol. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 554 HGNC: 897 AceView: AVPR2 Ensembl:ENSG00000126895 euGenes: HUgn554
    ECgene: AVPR2 Kegg: 554 H-InvDB: AVPR2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AVPR2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AVPR2 Genetics and Cytogenetics in Oncology and Haematology
    Nephrogenic and neurogenic Diabetes Insipidushttp://www.medicine.mcgill.ca/nephros/avpr2.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AVPR2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AVPR2 gene:
    Search GeneIP for patents involving AVPR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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