AVPR2 (arginine vasopressin receptor 2)

2003-06-01  

Identity

HGNC
AVPR2
LOCATION
Xq28
LOCUSID
554
ALIAS
ADHR,DI1,DIR,DIR3,NDI,V2R

Other Information

Locus ID:

NCBI: 554
MIM: 300538
HGNC: 897
Ensembl: ENSG00000126895

Variants:

dbSNP: 554
ClinVar: 554
TCGA: ENSG00000126895
COSMIC: AVPR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126895ENST00000337474P30518
ENSG00000126895ENST00000370049P30518
ENSG00000126895ENST00000430697C9JV81
ENSG00000126895ENST00000434679F8WET1
ENSG00000126895ENST00000646375P30518

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
Vasopressin-like receptorsREACTOMER-HSA-388479
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Aquaporin-mediated transportREACTOMER-HSA-445717
Vasopressin regulates renal water homeostasis via AquaporinsREACTOMER-HSA-432040
SLC transporter disordersREACTOMER-HSA-5619102
Defective AVP causes neurohypophyseal diabetes insipidus (NDI)REACTOMER-HSA-5619099
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

References

Pubmed IDYearTitleCitations
389728752024Role of the V2R-βarrestin-Gβγ complex in promoting G protein translocation to endosomes.0
389728752024Role of the V2R-βarrestin-Gβγ complex in promoting G protein translocation to endosomes.0
355030852022Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.4
359010212022Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.0
355030852022Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.4
359010212022Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.0
331600692021Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.5
338887042021Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2.27
341011332021Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.3
331600692021Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.5
338887042021Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2.27
341011332021Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.3
320732192020A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.2
324134422020Dynamics and structural communication in the ternary complex of fully phosphorylated V2 vasopressin receptor, vasopressin, and β-arrestin 1.0
324860312020The Vasopressin Receptor 2 Mutant R137L Linked to the Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Signals through an Alternative Pathway that Increases AQP2 Membrane Targeting Independently of S256 Phosphorylation.4

Citation

Dessen P

AVPR2 (arginine vasopressin receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/732