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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]
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 Clathrin-mediated endocytosis and Signaling by GPCR. 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.
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).
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 | 600.7 | +0.4 | 375 | 5 | HNRNPL PRDM10 IKZF1 ZNF143 RELA ZIC2 ZNF776 ZSCAN4 PATZ1 TCF12 | AVPR2 HCFC1 SNORA70 DKC1 PLXNA3 TMEM187 SNORA56 EMD ENSG00000260081 SLC10A3 | |
GH0XJ153854 | Enhancer | 0.3 | ENCODE | 13.6 | -47.7 | -47670 | 0.2 | CTCF HLF | L1CAM PDZD4 AVPR2 SSR4 IDH3G SRPK3 PLXNB3 ABCD1 BCAP31 piR-57461-312 | |
GH0XJ153702 | Promoter/Enhancer | 1 | FANTOM5 Ensembl ENCODE | 2.9 | -197.5 | -197466 | 4.6 | ZBTB33 CTCF ZBTB48 KLF17 KLF1 HLF | SRPK3 PNCK SLC6A8 IKBKG AVPR2 piR-43107-324 BCAP31 | |
GH0XJ154317 | Enhancer | 0.5 | Ensembl | 5.2 | +415.1 | 415070 | 0.8 | CTCF IKZF1 PRDM1 SCRT2 SCRT1 SMC3 RAD21 | AVPR2 ENSG00000231830 TEX28 TKTL1 FLNA | |
GH0XJ153905 | Enhancer | 0.4 | ENCODE | 0.7 | +4.0 | 3964 | 1 | ZBTB33 POLR2A L3MBTL2 | TMEM187 AVPR2 ENSG00000284987 lnc-L1CAM-1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004930 | G protein-coupled receptor activity | IBA | 21873635 |
GO:0005000 | vasopressin receptor activity | IDA,TAS | 8882880 |
GO:0005515 | protein binding | IPI | 12409230 |
GO:0042277 | peptide binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IDA | 14757828 |
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,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors |
.34
|
|
2 | Signaling by GPCR | ||
3 | Aquaporin-mediated transport | ||
4 | Clathrin-mediated endocytosis | ||
5 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Desmopressin | Approved | Pharma | Agonist, Full agonist, Target, agonist, stimulator | Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist | 0 | |
Tolvaptan | Approved | Pharma | Antagonist, Target, antagonist | AVP V2-receptor antagonist | 105 | |
Conivaptan | Approved, Investigational | Pharma | Antagonist, Target, antagonist | 21 | ||
Vasopressin | Approved | Pharma | Agonist, Full agonist, Partial agonist, Target, agonist | 0 | ||
Atosiban | Approved, Investigational | Pharma | Antagonist, Target, antagonist | mixed antagonist of oxytocin and vasopressin receptors | 16 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[<sup>3</sup>H]AVP |
|
Agonist, Full agonist, Partial agonist |
|
|||
AVT |
|
Agonist, Full agonist |
|
|||
OPC-31260 |
|
Antagonist, Inverse agonist, Inverse antagonist |
|
|||
SR 121463A |
|
Antagonist |
|
|||
[Arg8]-Vasopressin |
|
113-79-1 |
|
|
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 |
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 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AVPR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AVPR2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AVPR2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Avpr2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Avpr2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AVPR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AVPR2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AVPR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100487051 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100151502 30 |
|
||
AVPR2 (3 of 3) 31 |
|
OneToMany | |||
avpr2aa 31 |
|
OneToMany | |||
avpr2ab 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6111 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | T07D10.2 32 |
|
|
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 | |
710721 | Benign: Nephrogenic diabetes insipidus, X-linked; not provided | 153,906,629(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
711109 | Benign: not provided | 153,905,709(+) | G/A | MISSENSE_VARIANT | |
716656 | Likely Benign: not provided | 153,905,696(+) | C/T | MISSENSE_VARIANT | |
722450 | Likely Benign: not provided | 153,906,048(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrogenic syndrome of inappropriate antidiuresis |
|
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diabetes insipidus, nephrogenic, x-linked |
|
|
diabetes insipidus, nephrogenic, autosomal |
|
|
diabetes insipidus |
|
|
inappropriate adh syndrome |
|