AVPR2

GENE INFORMATION

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Gene name

AVPR2 (HGNC Symbol)

Synonyms

DIR, DIR3, V2R

Description

arginine vasopressin receptor 2 (HGNC Symbol)

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]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

153167985 - 153172620

Ensembl

ENSG00000126895 (version 73.37)

Entrez gene

554

UniProt

P30518 (UniProt - Evidence at protein level)

neXtProt

NX_P30518

Antibodypedia

AVPR2 antibodies
 

PROTEIN VIEW

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AVPR2-001
 
AVPR2-002
 
AVPR2-003
 
AVPR2-004
 
AVPR2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AVPR2-001 ENSP00000351805
ENST00000358927
P30518
Show all »
Show » Show » 371 40.3 No 7
AVPR2-002 ENSP00000393397
ENST00000434679
F8WET1
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48 4.5 No 0
AVPR2-003 ENSP00000359066
ENST00000370049
P30518
Show all »
Show » Show » 309 33.7 No 6
AVPR2-004 ENSP00000393513
ENST00000430697
C9JV81
Show all »
Show » Show » 372 39.9 No 6
AVPR2-201 ENSP00000338072
ENST00000337474
P30518
Show all »
Show » Show » 371 40.3 No 7