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Aliases for AVPR2 Gene

Aliases for AVPR2 Gene

  • Arginine Vasopressin Receptor 2 2 3 5
  • Renal-Type Arginine Vasopressin Receptor 3 4
  • Antidiuretic Hormone Receptor 3 4
  • AVPR V2 3 4
  • DIR3 3 4
  • ADHR 3 4
  • DIR 3 4
  • V2R 3 4
  • Nephrogenic Diabetes Insipidus 2
  • Vasopressin V2 Receptor 3
  • DI1 3
  • NDI 3

External Ids for AVPR2 Gene

Previous HGNC Symbols for AVPR2 Gene

  • DIR3
  • DIR

Previous GeneCards Identifiers for AVPR2 Gene

  • GC0XP147305
  • GC0XP149625
  • GC0XP150753
  • GC0XP151635
  • GC0XP152688
  • GC0XP152823
  • GC0XP153167
  • GC0XP141789

Summaries for AVPR2 Gene

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, Nephrogenic and Nephrogenic Syndrome Of Inappropriate Antidiuresis. Among its related pathways are Peptide ligand-binding receptors and Aquaporin-mediated transport. GO annotations related to this gene include G-protein coupled receptor activity and vasopressin receptor activity. An important paralog of this gene is AVPR1B.

UniProtKB/Swiss-Prot for AVPR2 Gene

  • Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.

Tocris 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).

Gene Wiki entry for AVPR2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVPR2 Gene

Genomics for AVPR2 Gene

Regulatory Elements for AVPR2 Gene

Enhancers for AVPR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around AVPR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AVPR2 Gene

Chromosome:
X
Start:
153,902,531 bp from pter
End:
153,907,166 bp from pter
Size:
4,636 bases
Orientation:
Plus strand

Genomic View for AVPR2 Gene

Genes around AVPR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AVPR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AVPR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVPR2 Gene

Proteins for AVPR2 Gene

  • Protein details for AVPR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30518-V2R_HUMAN
    Recommended name:
    Vasopressin V2 receptor
    Protein Accession:
    P30518
    Secondary Accessions:
    • C5HF20
    • O43192
    • Q3MJD3
    • Q9UCV9

    Protein attributes for AVPR2 Gene

    Size:
    371 amino acids
    Molecular mass:
    40279 Da
    Quaternary structure:
    • Interacts with ARRDC4. Identified in a complex containing at least ARRDC4, V2R and HGS.

    Three dimensional structures from OCA and Proteopedia for AVPR2 Gene

    Alternative splice isoforms for AVPR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AVPR2 Gene

Post-translational modifications for AVPR2 Gene

  • Glycosylation at Asn 22
  • Modification sites at PhosphoSitePlus

Other Protein References for AVPR2 Gene

No data available for DME Specific Peptides for AVPR2 Gene

Domains & Families for AVPR2 Gene

Suggested Antigen Peptide Sequences for AVPR2 Gene

Graphical View of Domain Structure for InterPro Entry

P30518

UniProtKB/Swiss-Prot:

V2R_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.
genes like me logo Genes that share domains with AVPR2: view

Function for AVPR2 Gene

Molecular function for AVPR2 Gene

GENATLAS Biochemistry:
vasopressin renal V2-type receptor,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.

Gene Ontology (GO) - Molecular Function for AVPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005000 vasopressin receptor activity TAS 8882880
GO:0005515 protein binding IPI 12409230
GO:0042277 peptide binding IBA --
genes like me logo Genes that share ontologies with AVPR2: view
genes like me logo Genes that share phenotypes with AVPR2: view

Human Phenotype Ontology for AVPR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AVPR2 Gene

MGI Knock Outs for AVPR2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AVPR2
  • R&D Systems cDNA Clones for AVPR2 (V2 Vasopressin R/AVPR2)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for AVPR2 Gene

Localization for AVPR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVPR2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AVPR2 Gene COMPARTMENTS Subcellular localization image for AVPR2 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
plasma membrane 5
golgi apparatus 4
extracellular 1

Gene Ontology (GO) - Cellular Components for AVPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome TAS 10858434
GO:0005783 endoplasmic reticulum TAS 10880054
GO:0005794 Golgi apparatus TAS 10880054
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1303257
genes like me logo Genes that share ontologies with AVPR2: view

Pathways & Interactions for AVPR2 Gene

genes like me logo Genes that share pathways with AVPR2: view

Interacting Proteins for AVPR2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000338072%0d%0a9606.ENSP00000286758%0d%0a9606.ENSP00000349238%0d%0a9606.ENSP00000386444%0d%0a9606.ENSP00000409581%0d%0a9606.ENSP00000262493%0d%0a
Selected Interacting proteins: ENSP00000338072 P30518-V2R_HUMAN for AVPR2 Gene via STRING UniProtKB IID

SIGNOR curated interactions for AVPR2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AVPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001992 regulation of systemic arterial blood pressure by vasopressin IBA --
GO:0003084 positive regulation of systemic arterial blood pressure IEA --
GO:0003091 renal water homeostasis TAS --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS 10880054
GO:0007190 activation of adenylate cyclase activity TAS 9224808
genes like me logo Genes that share ontologies with AVPR2: view

Drugs & Compounds for AVPR2 Gene

(77) Drugs for AVPR2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tolvaptan Approved Pharma Antagonist, antagonist, Target AVP V2-receptor antagonist, Potent and selective vasopressin V2 receptor antagonist; renoprotective and orally active 85
Desmopressin Approved Pharma Full agonist, Agonist, stimulator, Target, agonist Hemostatic and anti-diuretic 0
Conivaptan Approved, Investigational Pharma Antagonist, antagonist, Target 20
Vasopressin Approved Pharma Full agonist, Agonist, agonist, Target 0
Terlipressin Approved, Investigational Pharma stimulator, Target, agonist 48

(17) Additional Compounds for AVPR2 Gene - From: IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]AVP
Full agonist, Agonist
AVT
Full agonist, Agonist
OPC-31260
Antagonist
SR 121463A
Antagonist
[Arg8]-Vasopressin
113-79-1

(5) Tocris Compounds for AVPR2 Gene

Compound Action Cas Number
(d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin Selective vasopressin V1A antagonist 73168-24-8
[Arg8]-Vasopressin Antidiuretic hormone 113-79-1
OPC 21268 Orally active vasopressin V1 antagonist 131631-89-5
SR 49059 Selective, orally active vasopressin V1A receptor antagonist 150375-75-0
Tolvaptan Potent and selective vasopressin V2 receptor antagonist; renoprotective and orally active 150683-30-0

(7) ApexBio Compounds for AVPR2 Gene

Compound Action Cas Number
Conivaptan HCl 168626-94-6
d[Cha4]-AVP
d[Leu4,Lys8]-VP 42061-33-6
Desmopressin Hemostatic and anti-diuretic 16679-58-6
Desmopressin Acetate Synthetic analogue of arginine vasopressin 62288-83-9
Mozavaptan 137975-06-5
Tolvaptan AVP V2-receptor antagonist 150683-30-0
genes like me logo Genes that share compounds with AVPR2: view

Transcripts for AVPR2 Gene

Unigene Clusters for AVPR2 Gene

Arginine vasopressin receptor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AVPR2
  • R&D Systems cDNA Clones for AVPR2 (V2 Vasopressin R/AVPR2)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AVPR2 Gene

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

Relevant External Links for AVPR2 Gene

GeneLoc Exon Structure for
AVPR2
ECgene alternative splicing isoforms for
AVPR2

Expression for AVPR2 Gene

mRNA expression in normal human tissues for AVPR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AVPR2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.8) and Adipose - Subcutaneous (x4.5).

Protein differential expression in normal tissues from HIPED for AVPR2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AVPR2 Gene



Protein tissue co-expression partners for AVPR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AVPR2 Gene:

AVPR2

SOURCE GeneReport for Unigene cluster for AVPR2 Gene:

Hs.567240

mRNA Expression by UniProt/SwissProt for AVPR2 Gene:

P30518-V2R_HUMAN
Tissue specificity: Kidney.
genes like me logo Genes that share expression patterns with AVPR2: view

Primer Products

Orthologs for AVPR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AVPR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AVPR2 34
  • 85.14 (n)
  • 84.59 (a)
AVPR2 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AVPR2 34
  • 86.85 (n)
  • 86.49 (a)
AVPR2 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Avpr2 34
  • 83.65 (n)
  • 87.6 (a)
Avpr2 16
Avpr2 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AVPR2 34
  • 99.46 (n)
  • 99.73 (a)
AVPR2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Avpr2 34
  • 83.83 (n)
  • 87.87 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia AVPR2 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves AVPR2 35
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AVPR2 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487051 34
  • 58.26 (n)
  • 56.76 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100151502 34
  • 64.21 (n)
  • 60.58 (a)
AVPR2 (3 of 3) 35
  • 44 (a)
OneToMany
avpr2aa 35
  • 36 (a)
OneToMany
avpr2ab 35
  • 35 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6111 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea T07D10.2 36
  • 27 (a)
Species where no ortholog for AVPR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AVPR2 Gene

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

Paralogs for AVPR2 Gene

Paralogs for AVPR2 Gene

(6) SIMAP similar genes for AVPR2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AVPR2: view

Variants for AVPR2 Gene

Sequence variations from dbSNP and Humsavar for AVPR2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs5196 - 153,905,164(+) CCACC(A/T)CTTCC nc-transcript-variant, reference, missense
VAR_003517 Diabetes insipidus, nephrogenic, X-linked (XNDI)
rs150351033 - 153,905,696(+) TAGCT(C/T)GGCGG intron-variant, reference, missense
VAR_003520 Diabetes insipidus, nephrogenic, X-linked (XNDI)
VAR_003521 Diabetes insipidus, nephrogenic, X-linked (XNDI)

Structural Variations from Database of Genomic Variants (DGV) for AVPR2 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
nsv469867 CNV loss 16826518

Variation tolerance for AVPR2 Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AVPR2 Gene

Human Gene Mutation Database (HGMD)
AVPR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AVPR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVPR2 Gene

Disorders for AVPR2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for AVPR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes insipidus, nephrogenic
  • nephrogenic diabetes insipidus
nephrogenic syndrome of inappropriate antidiuresis
  • nsiad
diabetes insipidus
endolymphatic sac tumor
  • elst
neonatal candidiasis
  • neonatal candida infection
- elite association - COSMIC cancer census association via MalaCards
Search AVPR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

V2R_HUMAN
  • 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. {ECO:0000269 PubMed:10694923, ECO:0000269 PubMed:10770218, ECO:0000269 PubMed:11232028, ECO:0000269 PubMed:11916004, ECO:0000269 PubMed:1303257, ECO:0000269 PubMed:1303271, ECO:0000269 PubMed:1356229, ECO:0000269 PubMed:16845277, ECO:0000269 PubMed:7560098, ECO:0000269 PubMed:7833930, ECO:0000269 PubMed:7984150, ECO:0000269 PubMed:7987330, ECO:0000269 PubMed:7999078, ECO:0000269 PubMed:8037205, ECO:0000269 PubMed:8045948, ECO:0000269 PubMed:8078903, ECO:0000269 PubMed:8267567, ECO:0000269 PubMed:8479490, ECO:0000269 PubMed:8514744, ECO:0000269 PubMed:9402087, ECO:0000269 PubMed:9452109, ECO:0000269 PubMed:9711877}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:15872203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AVPR2

Genetic Association Database (GAD)
AVPR2
Human Genome Epidemiology (HuGE) Navigator
AVPR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AVPR2
genes like me logo Genes that share disorders with AVPR2: view

No data available for Genatlas for AVPR2 Gene

Publications for AVPR2 Gene

  1. Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations. (PMID: 19996159) Fu Y. … Cohen D.M. (Physiol. Genomics 2010) 3 22 46 65
  2. Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus. (PMID: 17550212) Kotnik P. … Krzisnik C. (J. Pediatr. Endocrinol. Metab. 2007) 3 22 46 65
  3. 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. (PMID: 16333859) Slusarz M.J. … Ciarkowski J. (Biopolymers 2006) 3 22 25 65
  4. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PMID: 16845277) Carroll P. … Meyer B.F. (Genet. Med. 2006) 3 4 22 65
  5. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. (PMID: 17020465) Boson W.L. … De Marco L. (Genet. Test. 2006) 3 22 25 65

Products for AVPR2 Gene

Sources for AVPR2 Gene

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