AVPR2 Gene (Protein Coding)

Arginine Vasopressin Receptor 2

GC0XP153902
GIFtS:
49
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 n... See more...

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
  • Vasopressin V2 Receptor 3 4
  • AVPR V2 3 4
  • DIR3 3 4
  • ADHR 3 4
  • DIR 3 4
  • V2R 3 4
  • Nephrogenic Diabetes Insipidus 2
  • 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 Nephrogenic Syndrome Of Inappropriate Antidiuresis and Diabetes Insipidus, Nephrogenic, X-Linked. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (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 Summary 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

Additional gene information for AVPR2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AVPR2 Gene

Genomics for AVPR2 Gene

GeneHancer (GH) Regulatory Elements for AVPR2 Gene

Promoters and enhancers for AVPR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ153900 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 500.7 +0.4 375 5 FOS ZBTB5 EP300 ZIC2 REST ZBTB11 RELA MYC ZNF341 ZNF148 AVPR2 SNORA70 HCFC1 DKC1 TMEM187 SNORA56 EMD ENSG00000260081 SLC10A3 PLXNA3
GH0XJ154364 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 +470.9 470870 17.2 HNRNPK ZNF217 EP300 CTCF TCF12 SIN3A NRF1 POLR2G SP1 JUND EMD FLNA ENSG00000285018 PLXNA3 DKC1 SNORA70 SLC10A3 FAM50A RPL10 TMEM187
GH0XJ153965 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +68.0 67985 10 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 NCOR1 TMEM187 HCFC1 HCFC1-AS1 lnc-HCFC1-1 lnc-TMEM187-2 SNORA70 SLC10A3 SNORA56 DKC1 EMD
GH0XJ154760 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 +860.7 860714 4.7 TCF12 SIN3A MYC NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 ZFX DKC1 NONHSAG055609.2 lnc-GAB3-3 GAB3 F8A1 SNORA70 SLC10A3 EMD FLNA RPL10
GH0XJ153854 Enhancer 0.4 ENCODE 13.6 -47.7 -47670 0.2 CTCF RAD21 HLF L1CAM PDZD4 AVPR2 IDH3G SSR4 SRPK3 PLXNB3 ABCD1 BCAP31 piR-57461-312
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AVPR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AVPR2

Top Transcription factor binding sites by QIAGEN in the AVPR2 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for AVPR2 Gene

Genomic Locations for AVPR2 Gene
chrX:153,902,531-153,907,166
(GRCh38/hg38)
Size:
4,636 bases
Orientation:
Plus strand
chrX:153,167,985-153,172,620
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for AVPR2 Gene

Proteins for AVPR2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for AVPR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AVPR2 Gene

  • Glycosylation at Asn22
  • Modification sites at PhosphoSitePlus

Other Protein References for AVPR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AVPR2 Gene

Domains & Families for AVPR2 Gene

Gene Families for AVPR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for AVPR2 Gene

Blocks:
  • Vasopressin receptor signature
  • Vasopressin V2 receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AVPR2 Gene

GenScript: Design optimal peptide antigens:
  • Arginine vasopressin receptor 2 (Nephrogenic diabetes insipidus), isoform CRA_a (C5HF20_HUMAN)
  • Renal-type arginine vasopressin receptor (V2R_HUMAN)

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for AVPR2 Gene

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.
GENATLAS Biochemistry:
vasopressin renal V2-type receptor,G protein coupled receptor superfamily

Gene Ontology (GO) - Molecular Function for AVPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0005000 vasopressin receptor activity IBA,TAS 8882880
GO:0005515 protein binding IPI 12409230
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

Clone Products

  • Addgene plasmids for AVPR2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AVPR2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
endosome 4
golgi apparatus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 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 IBA,TAS 21873635
genes like me logo Genes that share ontologies with AVPR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AVPR2 Gene

Pathways & Interactions for AVPR2 Gene

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

SIGNOR curated interactions for AVPR2 Gene

Activates:
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 21873635
GO:0003084 positive regulation of systemic arterial blood pressure IEA --
GO:0003091 renal water homeostasis TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with AVPR2: view

Drugs & Compounds for AVPR2 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desmopressin Approved Pharma Full agonist, Agonist, stimulator, Target, agonist Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist 0
Tolvaptan Approved Pharma Antagonist, antagonist, Target AVP V2-receptor antagonist 104
Conivaptan Approved, Investigational Pharma Antagonist, antagonist, Target 21
Vasopressin Approved Pharma Full agonist, Agonist, Partial agonist, agonist, Target 0
Atosiban Approved, Investigational Pharma Antagonist, Target, antagonist mixed antagonist of oxytocin and vasopressin receptors 16

(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, Partial agonist
AVT
Full agonist, Agonist
OPC-31260
Antagonist, Inverse antagonist
SR 121463A
Antagonist
[Arg8]-Vasopressin
113-79-1

(5) Tocris Compounds for AVPR2 Gene

Compound Action Cas Number
[Arg8]-Vasopressin Antidiuretic hormone 113-79-1
[Lys8]-Vasopressin Antidiuretic hormone 50-57-7
d[Cha4]-AVP Potent and selective human V1B agonist 500170-27-4
d[Leu4,Lys8]-VP Selective V1B agonist 42061-33-6
Desmopressin Synthetic vasopressin analog; V1B and V2 agonist 16679-58-6

(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

Drug Products

Transcripts for AVPR2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AVPR2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AVPR2

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

Expression for AVPR2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AVPR2 Gene

mRNA expression in normal human tissues for AVPR2 Gene
mRNA expression by BioGPS for AVPR2 GenemRNA expression by GTEx 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 and MOPED for AVPR2 Gene



Protein tissue co-expression partners for AVPR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for AVPR2 Gene

  • Kidney(4.6)
  • Nervous system(4.5)
  • Lung(4.4)
  • Urine(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AVPR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • pituitary gland
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • rectum
  • urinary bladder
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with AVPR2: view

Orthologs for AVPR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AVPR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AVPR2 31 30
  • 99.46 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AVPR2 31 30
  • 86.85 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia AVPR2 31 30
  • 85.14 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Avpr2 30
  • 83.83 (n)
mouse
(Mus musculus)
 Mammalia Avpr2 17 31 30
  • 83.65 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia AVPR2 31
  • 60 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AVPR2 31
  • 39 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia AVPR2 31
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100487051 30
  • 58.26 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC100151502 30
  • 64.21 (n)
AVPR2 (3 of 3) 31
  • 44 (a)
 OneToMany
avpr2aa 31
  • 36 (a)
 OneToMany
avpr2ab 31
  • 35 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG6111 32
  • 29 (a)
worm
(Caenorhabditis elegans)
 Secernentea T07D10.2 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AVPR2: view image

Paralogs for AVPR2 Gene

Paralogs for AVPR2 Gene

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

  • V2R_HUMAN
  • C9JV81_HUMAN
  • F8WET1_HUMAN
genes like me logo Genes that share paralogs with AVPR2: view

Variants for AVPR2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AVPR2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
10835 Pathogenic: Nephrogenic diabetes insipidus, X-linked 153,906,238(+) TG/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
585474 Pathogenic: not provided 153,905,889(+) A/C MISSENSE_VARIANT
rs104894747 Pathogenic: Nephrogenic diabetes insipidus, X-linked. Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] 153,905,901(+) C/Ap.Ala132Asp MISSENSE_VARIANT
rs104894748 Pathogenic: Nephrogenic diabetes insipidus, X-linked. Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] 153,906,059(+) G/Tp.Gly185Cys MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs104894749 Pathogenic: Nephrogenic diabetes insipidus; Nephrogenic diabetes insipidus, X-linked. Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] 153,906,120(+) A/Gp.Tyr205Cys MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for AVPR2 Gene

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)

Additional Variant Information for AVPR2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AVPR2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for AVPR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nephrogenic syndrome of inappropriate antidiuresis
  • nsiad
diabetes insipidus, nephrogenic, x-linked
  • ndi
diabetes insipidus, nephrogenic, autosomal
  • diabetes insipidus, nephrogenic, type ii
diabetes insipidus
inappropriate adh syndrome
  • syndrome of inappropriate antidiuretic hormone secretion
- 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
  • 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.
  • 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:11026555, 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.

Additional Disease Information for AVPR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DM (Physiological genomics 2010) 3 23 41 54
  2. Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus. (PMID: 17550212) Kotnik P … Krzisnik C (Journal of pediatric endocrinology & metabolism : JPEM 2007) 3 23 41 54
  3. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PMID: 16845277) Carroll P … Meyer BF (Genetics in medicine : official journal of the American College of Medical Genetics 2006) 3 4 23 54
  4. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. (PMID: 17020465) Boson WL … De Marco L (Genetic testing 2006) 3 23 26 54
  5. 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 MJ … Ciarkowski J (Biopolymers 2006) 3 23 26 54

ExternalLinks

View latest publications for AVPR2 gene in Mastermind

Products for AVPR2 Gene

  • Addgene plasmids for AVPR2

Sources for AVPR2 Gene