InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: AVPR2

Summary

InnateDB Gene

IDBG-90510.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AVPR2

Gene Name

arginine vasopressin receptor 2

Synonyms

ADHR; DI1; DIR; DIR3; NDI; V2R

Species

Homo sapiens

Ensembl Gene

ENSG00000126895

Encoded Proteins

IDBP-90512

arginine vasopressin receptor 2

IDBP-90514

arginine vasopressin receptor 2

IDBP-90516

arginine vasopressin receptor 2

IDBP-383145

arginine vasopressin receptor 2

IDBP-383149

arginine vasopressin receptor 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:153902531-153907166

Strand

Forward strand

Band

q28

Transcripts

ENST00000358927	ENSP00000351805
ENST00000337474	ENSP00000338072
ENST00000370049	ENSP00000359066
ENST00000434679	ENSP00000393397
ENST00000430697	ENSP00000393513

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0005000	vasopressin receptor activity
GO:0005515	protein binding

Biological Process

GO:0003084	positive regulation of systemic arterial blood pressure
GO:0006833	water transport
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007190	activation of adenylate cyclase activity
GO:0007249	I-kappaB kinase/NF-kappaB signaling
GO:0007588	excretion
GO:0007599	hemostasis
GO:0008284	positive regulation of cell proliferation
GO:0010628	positive regulation of gene expression
GO:0021537	telencephalon development
GO:0031398	positive regulation of protein ubiquitination
GO:0032609	interferon-gamma production
GO:0034097	response to cytokine
GO:0035811	negative regulation of urine volume
GO:0035814	negative regulation of renal sodium excretion
GO:0045777	positive regulation of blood pressure
GO:0055085	transmembrane transport

Cellular Component

GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane