Aliases for AVPR2 Gene
Aliases for AVPR2 Gene
External Ids for AVPR2 Gene
- HGNC: 897
- Entrez Gene: 554
- Ensembl: ENSG00000126895
- OMIM: 300538
- UniProtKB: P30518
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
-
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 CDK-mediated phosphorylation and removal of Cdc6 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 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.
-
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).
Additional gene information for AVPR2 Gene
- Monarch Initiative
- Search for AVPR2 at DataMed
- Search for AVPR2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVPR2 Gene
Genomics for AVPR2 Gene
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XI153900 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE | 550.8 | 0.0 | -26 | 4.2 | HDGF GLI4 TCF12 ZNF766 GLIS2 GATA2 ZNF143 FOS REST ATF4 | AVPR2 HCFC1 SNORA70 DKC1 PLXNA3 TMEM187 SNORA56 EMD LOC105373383 SLC10A3 | |
GH0XI153904 | Promoter | 0.6 | EPDnew | 550.8 | +2.5 | 2452 | 0.1 | POLR2A | AVPR2 L1CAM | |
GH0XI153854 | Enhancer | 0.4 | ENCODE | 13.6 | -47.7 | -47670 | 0.2 | CTCF HLF | L1CAM PDZD4 AVPR2 IDH3G SSR4 SRPK3 PLXNB3 BCAP31 ABCD1 CYCSP45 | |
GH0XI153702 | Enhancer | 0.8 | FANTOM5 ENCODE | 2.9 | -197.5 | -197466 | 4.6 | CTCF KLF1 ZBTB48 HLF KLF17 ZBTB33 | SRPK3 PNCK SLC6A8 IKBKG AVPR2 BCAP31 | |
GH0XI153884 | Promoter/Enhancer | 2 | EPDnew FANTOM5 Ensembl ENCODE | 0.4 | -16.4 | -16426 | 3 | CTCF KLF1 MAX KLF17 ZIC2 RAD21 HIC1 ZFHX2 GATA3 GLIS2 | L1CAM RENBP TMEM187 PDZD4 IDH3G SSR4 SRPK3 PLXNB3 NAA10 ARHGAP4 |
Regulatory Element Products
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)
Genomic View for AVPR2 Gene
- Cytogenetic band:
-
- Xq28 by Ensembl
- Xq28 by Entrez Gene
- Xq28 by HGNC


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
- 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.
Protein Expression for AVPR2 Gene
Post-translational modifications for AVPR2 Gene
- Glycosylation at posLast=2222
Other Protein References for AVPR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for AVPR2
-
Abcam antibodies for AVPR2
- Invitrogen Antibodies for AVPR2
- antibodies-online: Search results for 69 available AVPR2 Antibodies ranked by validation data
- Compare Top AVPR2 Antibodies
-
Recommended
- 29 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-mouse)
- 8 WB Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 11 WB Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- GeneTex AVPR2 antibody for AVPR2
Protein Products
-
OriGene Purified Proteins for AVPR2
- Search Origene for MassSpec and Protein Over-expression Lysates for AVPR2
- Origene Custom Protein Services for AVPR2
- Search GeneTex for Proteins for AVPR2
-
Abcam proteins for AVPR2
Assay Products
- antibodies-online: Search results for 3 available AVPR2 Elisa Kits ranked by validation data
- Compare Top AVPR2 Elisa Kits
-
Recommended
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AVPR2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P30518UniProtKB/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.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004871 | signal transducer activity | IEA | -- |
GO:0004930 | G-protein coupled receptor activity | IEA | -- |
GO:0005000 | vasopressin receptor activity | TAS | 8882880 |
GO:0005515 | protein binding | IPI | 12409230 |
GO:0042277 | peptide binding | IBA | -- |
Phenotypes for AVPR2 Gene
- MGI mutant phenotypes for AVPR2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AVPR2:
-
- Decreased viability
- shRNA abundance <= 50%
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Effect on mitosis
- Decreased substrate adherent cell growth
- Decreased IL-8 secretion
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased Salmonella enterica Typhimurium invasion
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for AVPR2 Gene
- MGI Knock Outs for AVPR2:
-
- Avpr2 tm1Jwe
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AVPR2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AVPR2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AVPR2 gene
- Search ViGene Biosciences for AVPR2
CRISPR Products
-
OriGene CRISPR knockouts for AVPR2
- genomics-online: gRNA clones - Search results for 95 available AVPR2 gene related products
- Overview of 95 available AVPR2 gene related products
- Applied Biological Materials CRISPR for AVPR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AVPR2
- GenScript: Design CRISPR guide RNA sequences for AVPR2
miRNA Products
- Search ViGene Biosciences for AVPR2
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for AVPR2
- Browse OriGene Inhibitory RNA Products For AVPR2
- genomics-online: shRNA clones - Search results for 95 available AVPR2 gene related products
- Overview of 95 available AVPR2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AVPR2 gene
Clone Products
- Sino Biological Human cDNA Clone for AVPR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AVPR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AVPR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AVPR2
- Applied Biological Materials Clones for AVPR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for AVPR2 (V2 Vasopressin R/AVPR2)
Cell Line Products
-
Horizon Cell Lines for AVPR2
-
ViGene Biosciences adenoviral particle packaged cDNA for AVPR2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AVPR2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AVPR2 gene
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.
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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AVPR2 Gene
Pathways & Interactions for AVPR2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors |
.34
|
|
2 | Signaling by GPCR | ||
3 | Aquaporin-mediated transport | ||
4 | Clathrin-mediated endocytosis | ||
5 | CDK-mediated phosphorylation and removal of Cdc6 |
Pathways by source for AVPR2 Gene
3 BioSystems pathways for AVPR2 Gene
3 KEGG pathways for AVPR2 Gene
Interacting Proteins 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:0007165 | signal transduction | IEA | -- |
GO:0007186 | G-protein coupled receptor signaling pathway | TAS | -- |
Drugs & Compounds for AVPR2 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Desmopressin | Approved | Pharma | Full agonist, Agonist, Target, agonist, stimulator | Hemostatic and anti-diuretic | 0 | |
Tolvaptan | Approved | Pharma | Antagonist, Target, antagonist | AVP V2-receptor antagonist | 93 | |
Conivaptan | Approved, Investigational | Pharma | Antagonist, Target, antagonist | 21 | ||
Vasopressin | Approved | Pharma | Full agonist, Agonist, Target, agonist | 0 | ||
Terlipressin | Approved, Investigational | Pharma | Target, agonist, stimulator | 60 |
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 |
---|---|---|
[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 |
Transcripts for AVPR2 Gene
mRNA/cDNA for AVPR2 Gene
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (24) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AVPR2 Gene
- Arginine vasopressin receptor 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for AVPR2
- genomics-online: gRNA clones - Search results for 95 available AVPR2 gene related products
- Overview of 95 available AVPR2 gene related products
- Applied Biological Materials CRISPR for AVPR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AVPR2
- GenScript: Design CRISPR guide RNA sequences for AVPR2
miRNA Products
- Search ViGene Biosciences for AVPR2
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for AVPR2
- Browse OriGene Inhibitory RNA Products For AVPR2
- genomics-online: shRNA clones - Search results for 95 available AVPR2 gene related products
- Overview of 95 available AVPR2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AVPR2 gene
Clone Products
- Sino Biological Human cDNA Clone for AVPR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AVPR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AVPR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AVPR2
- Applied Biological Materials Clones for AVPR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for AVPR2 (V2 Vasopressin R/AVPR2)
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: |
Expression for AVPR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Thyroid (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for AVPR2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AVPR2 Gene
NURSA nuclear receptor signaling pathways regulating expression of AVPR2 Gene:
AVPR2SOURCE GeneReport for Unigene cluster for AVPR2 Gene:
Hs.567240mRNA Expression by UniProt/SwissProt for AVPR2 Gene:
P30518-V2R_HUMANEvidence on tissue expression from TISSUES for AVPR2 Gene
- Kidney(4.6)
- Nervous system(4.5)
- Lung(4.3)
- Urine(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AVPR2 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- nervous
- respiratory
- skeletal muscle
- urinary
- brain
- ear
- head
- pituitary gland
- esophagus
- heart
- lung
- intestine
- kidney
- large intestine
- stomach
- rectum
- urinary bladder
- blood
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for AVPR2
-
OriGene qPCR primer pairs and template standards for AVPR2
Orthologs for AVPR2 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | AVPR2 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | AVPR2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | AVPR2 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Avpr2 33 |
|
||
mouse (Mus musculus) |
Mammalia | Avpr2 33 16 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | AVPR2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | AVPR2 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | AVPR2 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100487051 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC100151502 33 |
|
||
AVPR2 (3 of 3) 34 |
|
OneToMany | |||
avpr2aa 34 |
|
OneToMany | |||
avpr2ab 34 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG6111 35 |
|
|
|
worm (Caenorhabditis elegans) |
Secernentea | T07D10.2 35 |
|
|
- 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)
Paralogs for AVPR2 Gene
Variants for AVPR2 Gene
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs104894747 | pathogenic, Nephrogenic diabetes insipidus, X-linked, Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] | 153,905,901(+) | C/A/T | coding_sequence_variant, intron_variant, missense_variant | |
rs104894748 | pathogenic, Nephrogenic diabetes insipidus, X-linked, Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] | 153,906,059(+) | G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs104894749 | pathogenic, Nephrogenic diabetes insipidus, X-linked, Nephrogenic diabetes insipidus, Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] | 153,906,120(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs104894750 | pathogenic, Nephrogenic diabetes insipidus, X-linked, Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] | 153,906,113(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs104894751 | pathogenic, Nephrogenic diabetes insipidus, X-linked | 153,905,719(+) | G/A | coding_sequence_variant, intron_variant, stop_gained |
Additional Variant Information for AVPR2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVPR2 Gene
Disorders for AVPR2 Gene

(25) MalaCards diseases for AVPR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrogenic syndrome of inappropriate antidiuresis |
|
|
diabetes insipidus, nephrogenic, x-linked |
|
|
diabetes insipidus, nephrogenic, autosomal |
|
|
diabetes insipidus |
|
|
neonatal candidiasis |
|
|
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: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.
- 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.
Additional Disease Information for AVPR2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AVPR2 Gene
Publications for AVPR2 Gene
- 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 22 44 58
- 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 22 44 58
- 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 22 25 58
- 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 22 58
- Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. (PMID: 17020465) Boson WL … De Marco L (Genetic testing 2006) 3 22 25 58
Products for AVPR2 Gene
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- GeneTex AVPR2 antibody for AVPR2
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- Horizon Cell Lines for AVPR2
- genomics-online: cdna clones - Search results for 95 available AVPR2 gene related products
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- Overview of 95 available AVPR2 gene related products
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