Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AVPR2 Gene

protein-coding   GIFtS: 72
GCID: GC0XP153167

arginine vasopressin receptor 2


(Previous symbols: DIR3, DIR)
 Explore 30 diseases affiliated with
AVPR2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AVPR2    

Aliases
for AVPR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Arginine Vasopressin Receptor 21 2     Renal-Type Arginine Vasopressin Receptor2 3
DIR1 2 3 5     AVPR V22 3
DIR31 2 3     DI12 5
V2R1 2 3     NDI2
ADHR2 3 5     Vasopressin V2 Receptor2
Antidiuretic Hormone Receptor2 3     

External Ids:    HGNC: 8971   Entrez Gene: 5542   Ensembl: ENSG000001268957   OMIM: 3005385   UniProtKB: P305183   
ORGUL members:         
NONCODE:n407862    

Export aliases for AVPR2 gene to outside databases

Previous GC identifers: GC0XP147305 GC0XP149625 GC0XP150753 GC0XP151635 GC0XP152688 GC0XP152823 GC0XP141789


Summaries
for AVPR2 gene

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

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:
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)


Genomic Views
for AVPR2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AVPR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for AVPR2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: V2R_HUMAN, P30518 (See protein sequence)
Recommended Name: Vasopressin V2 receptor  
Size: 371 amino acids; 40279 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P30518

    • AVPR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000393397   ENSP00000351805   ENSP00000393513   ENSP00000359066   ENSP00000338072  
    Reactome Protein details: P30518
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant AVPR2 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: AVPR2
    OriGene Custom Protein Services for AVPR2 
    GenScript Custom Purified and Recombinant Proteins Services for AVPR2
    Novus Biologicals AVPR2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AVPR2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to plasma membrane TAS1303257


    AVPR2 for ontologies           About GeneDecksing



    AVPR2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of AVPR2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AVPR2 
    GenScript Custom Superior Antibodies Services for AVPR2
    Novus Biologicals AVPR2 Antibodies
    Search for Antibodies for AVPR2 at Abcam  
    Uscn Antibodies for AVPR2
    ThermoFisher Antibodies for AVPR2

    Assay Products for AVPR2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript AVPR2-overexpressing Cell Line for Assay
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for AVPR2

    Protein Domains /
    Families
    for AVPR2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AVPR2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for AVPR2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): AVPR2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AVPR2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate AVPR2:
    hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmid: AVPR2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AVPR2 (see all 7)
    OriGene shRNA RFP: AVPR2
    OriGene siRNA: AVPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVPR2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AVPR2

    Clone
    Products:             		EMD Millipore Clones for the Expression of AVPR2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVPR2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AVPR2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVPR2 

    Cell Line
    Products:             		GenScript AVPR2-overexpressing Cell Line for Assay
    Search LifeMap BioReagents cell lines for AVPR2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVPR2

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005000vasopressin receptor activity TAS8882880


    AVPR2 for ontologies           About GeneDecksing


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

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

    AVPR2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AVPR2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Class A/1 (Rhodopsin-like receptors)
    		Class A/1 (Rhodopsin-like receptors)1.00
    		GPCRs, Class A Rhodopsin-like0.41
    		GPCR ligand binding0.75
    		Neuroactive ligand-receptor interaction0.38
    		Peptide ligand-binding receptors0.61
    2Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    3Regulation of Water Balance by Renal Aquaporins
    		Regulation of Water Balance by Renal Aquaporins1.00
    		Aquaporin-mediated transport0.84
    4Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    		Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q1.00
    		Peptide GPCRs0.46
    5Vasopressin-like receptors
    		Vasopressin-like receptors1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for AVPR2
        Adenylate cyclase-activating neuropeptides
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q


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

    5/11        Reactome Pathways for AVPR2 (see all 11)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Signaling by GPCR
    Vasopressin-like receptors
    GPCR ligand binding


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


    AVPR2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AVPR2

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

    5/74 Interacting proteins for AVPR2 (P305183 ENSP000003380724) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    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): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003084positive regulation of systemic arterial blood pressure IEA--
    GO:0006833water transport TAS--
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS10880054
    GO:0007190activation of adenylate cyclase activity TAS9224808
    GO:0007249I-kappaB kinase/NF-kappaB cascade IEA--


    AVPR2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AVPR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AVPR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for AVPR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    [Lys8]-VasopressinAntidiuretic hormone[50-57-7]
    [Arg8]-VasopressinAntidiuretic hormone[113-79-1]
    DesmopressinSynthetic vasopressin analog; V1B and V2 agonist[16679-58-6]

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

    4 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

    10/27 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about AVPR2 / V2R 

    Transcripts
    for AVPR2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone (see all 2): AVPR2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AVPR2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate AVPR2:
    hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmid: AVPR2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AVPR2 (see all 7)
    OriGene shRNA RFP: AVPR2
    OriGene siRNA: AVPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVPR2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVPR2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AVPR2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): AVPR2 (NM_000054)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AVPR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVPR2 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AVPR2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AVPR2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVPR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVPR2

    Additional cDNA 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:

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

    Expression
    for AVPR2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AVPR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGCTGGCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AVPR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    KidneyUreteric BudUreteric Bud CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AVPR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AVPR2

    SOURCE GeneReport for Unigene cluster: Hs.567240

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including AVPR2: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Primary Cilia in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AVPR2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AVPR2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVPR2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVPR2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVPR2

    Orthologs
    for AVPR2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for AVPR2 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AVPR21 arginine vasopressin receptor 2 52.44(n)
    44.95(a)    		   427860  NM_001031479.1  NP_001026650.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AVPR26
    		 --
    		 56(a)
    		 1 ↔ 1
    		 2(88186002-88196150)
    zebrafish
    (Danio rerio)    		 Actinopterygii avpr26
    si:ch211-272p8.46
    		 si:ch211-272p8.4
    		 37(a)
    36(a)
    		 1 ↔ many
    1 ↔ many
    		 23(25326334-25337860)
    23(18697746-18714077)
    worm
    (Caenorhabditis elegans)    		 Secernentea T07D10.23 conopressin receptor like 27(a)   I(12629224-12631137)   --


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

    Paralogs
    for AVPR2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AVPR2 gene
    GPR1502  AVPR1A2  AVPR1B2  OXTR2  GNRHR2  NPSR12  GNRHR22  
    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



    Genomic Variants
    for AVPR2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/167 NCBI SNPs in AVPR2 are shown (see all 167)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048947591,2
    		Cpathogenic153171097(+) CTCCAA/TAGTCT 5 K I int1 mis10--------
    rs1048947511,2
    		Cpathogenic153171173(+) CACTGA/GGCACC 5 * W int1 stg10--------
    rs1048947541,2
    		Cpathogenic153171213(+) TGGCCA/GACCTG 5 N D mis1 int10--------
    rs1048947601,2
    		Cpathogenic153171270(+) CCGACC/TGCTTC 5 R C mis1 int10--------
    rs1048947581,2
    		Cpathogenic153171273(+) ACCGCG/TTCCGT 5 V F mis1 int10--------
    rs289354961,2
    		Cpathogenic153171297(+) TGTGTC/TGGGCC 5 R W int1 mis1 ese31Minor allele frequency- T:0.00NA 2
    rs1048947611,2
    		Cpathogenic153171369(+) TGGACC/G/TGCCAC 7 R G C int1 mis10--------
    rs1048947571,2
    		Cpathogenic153171501(+) CCCAGC/TGCAAC 5 R C nc-transcript-variantmis10--------
    rs1048947481,2
    		Cpathogenic153171513(+) TGGAAG/TGTGGC 5 G C mis10--------
    rs1048947551,2
    		Cpathogenic153171562(+) CTGGGA/GCCGTC 5 D G nc-transcript-variantmis10--------

    HapMap Linkage Disequilibrium report for AVPR2 (153167985 - 153172620 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AVPR2: --
    Human Gene Mutation Database (HGMD): AVPR2

    Locus Specific Mutation Databases (LSDB): AVPR2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AVPR2
    DNA2.0 Custom Variant and Variant Library Synthesis for AVPR2

    Disorders / Diseases
    for AVPR2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AVPR2 for disorders           About GeneDecksing

    OMIM gene information: 300538   
    OMIM disorders: 304800  300539  
    UniProtKB/Swiss-Prot: V2R_HUMAN, P30518
  • Defects in AVPR2 are the cause of nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539].
    • This disorder is characterized by an inability to excrete a free water load, with inappropriately concentrated urine
    and resultant hyponatremia, hypoosmolarity, and natriuresis
  • Defects in AVPR2 are the cause of diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]; also known as
    • diabetes insipidus nephrogenic type 1. XNDI is caused by the inability of the renal collecting ducts to absorb water
    in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine
    excretion (polyuria), persistent hypotonic urine, and hypokalemia

    20/30 diseases for AVPR2 (see all 30):    About MalaCards
    nephrogenic diabetes insipidus    diabetes insipidus    nephrogenic syndrome of inappropriate antidiuresis    inappropriate adh syndrome
    lung cancer    neurohypophyseal diabetes insipidus    endolymphatic sac tumor    endolymphatic hydrops
    neonatal candidiasis    x inactivation    cushing's syndrome    adrenal hyperplasia
    intellectual disability    polycystic kidney disease    enuresis    hypercalcemia
    radiculopathy    cerebral palsy    kidney disease    wilms tumor

    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

    10/17 Novoseek 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
    Nephrogenic Diabetes Insipidus

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

    Export disorders for AVPR2 gene to outside databases

    Publications
    for AVPR2 gene

    (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)
    About This Section

    PubMed articles for AVPR2 gene, integrated from 9 sources (see all 286):
    (articles sorted by number of sources associating them with AVPR2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PubMed id 16845277)1, 2, 9 Carroll P.... Meyer B.F. (2006)
    2. 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. (2006)
    3. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. (PubMed id 9711877)1, 2, 9 Schoeneberg T.... Schultz G. (1998)
    4. 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. (1997)
    5. 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. (2002)
    6. 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. (1992)
    7. 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. (2006)
    8. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PubMed id 8037205)1, 2, 9 Bichet D.G.... Morgan K. (1994)
    9. Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus. (PubMed id 11026555)1, 2, 9 Postina R.... Fahrenholz F. (2000)
    10. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. (PubMed id 10770218)1, 2, 9 Pasel K.... Schoneberg T. (2000)

    External Searches for AVPR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AVPR2 gene

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

    Other Databases showing AVPR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AVPR2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/AVPR2

    Intellectual Property
    for AVPR2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for AVPR2 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of AVPR2
     EMD Millipore Purified and/or Recombinant AVPR2 Protein
     EMD Millipore Clones for the Expression of AVPR2
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for AVPR2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AVPR2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AVPR2  
     OriGene Protein Over-expression Lysate for AVPR2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for AVPR2   OriGene 3'-UTR Clone for AVPR2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AVPR2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVPR2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AVPR2   OriGene Custom Protein Services for AVPR2  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AVPR2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AVPR2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVPR2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVPR2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVPR2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVPR2
     GenScript Custom Purified and Recombinant Proteins Services for AVPR2 GenScript cDNA clones with any tag delivered in your preferred vector for AVPR2
     GenScript AVPR2-overexpressing Cell Line for Assay GenScript Custom Superior Antibodies Services for AVPR2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in AVPR2 promoter
     Search Chromatin IP Primers for AVPR2
     RT2 qPCR Primer Assay in human, mouse, rat AVPR2
     Search GNC Networks for AVPR2
     SABiosciences PCR Arrays including human, mouse, rat AVPR2
     Tocris compounds for AVPR2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AVPR2 antibodies
     AVPR2 lysates
     Search for Antibodies for AVPR2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for AVPR2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     AVPR2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for AVPR2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVPR2
     SwitchGear 3'UTR luciferase reporter plasmids for AVPR2
     SwitchGear Promoter luciferase reporter plasmids for AVPR2
     ThermoFisher Antibodies for AVPR2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVPR2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      AVPR2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4