AVPR2 (arginine vasopressin receptor 2)

2003-06-01 Affiliation

Identity

HGNC

AVPR2

LOCATION

Xq28

LOCUSID

554

ALIAS

ADHR,DI1,DIR,DIR3,NDI,V2R

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000126895	ENST00000337474	P30518
ENSG00000126895	ENST00000370049	P30518
ENSG00000126895	ENST00000430697	C9JV81
ENSG00000126895	ENST00000434679	F8WET1
ENSG00000126895	ENST00000646375	P30518

Expression (GTEx)

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

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Vasopressin-regulated water reabsorption	KEGG	ko04962
Vasopressin-regulated water reabsorption	KEGG	hsa04962
Disease	REACTOME	R-HSA-1643685
Disorders of transmembrane transporters	REACTOME	R-HSA-5619115
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Peptide ligand-binding receptors	REACTOME	R-HSA-375276
Vasopressin-like receptors	REACTOME	R-HSA-388479
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (s) signalling events	REACTOME	R-HSA-418555
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Aquaporin-mediated transport	REACTOME	R-HSA-445717
Vasopressin regulates renal water homeostasis via Aquaporins	REACTOME	R-HSA-432040
SLC transporter disorders	REACTOME	R-HSA-5619102
Defective AVP causes neurohypophyseal diabetes insipidus (NDI)	REACTOME	R-HSA-5619099
Phospholipase D signaling pathway	KEGG	ko04072
Phospholipase D signaling pathway	KEGG	hsa04072
Clathrin-mediated endocytosis	REACTOME	R-HSA-8856828
Cargo recognition for clathrin-mediated endocytosis	REACTOME	R-HSA-8856825

References

Pubmed ID	Year	Title	Citations
23604254	2013	Structure of active β-arrestin-1 bound to a G-protein-coupled receptor phosphopeptide.	136
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
23935101	2013	Noncanonical control of vasopressin receptor type 2 signaling by retromer and arrestin.	56
14757828	2004	Heterodimerization of V1a and V2 vasopressin receptors determines the interaction with beta-arrestin and their trafficking patterns.	52
17626156	2007	Vasopressin V2 receptor expression along rat, mouse, and human renal epithelia with focus on TAL.	47
15319430	2004	Pharmacochaperones post-translationally enhance cell surface expression by increasing conformational stability of wild-type and mutant vasopressin V2 receptors.	46
12960162	2003	Regulation of V2 vasopressin receptor degradation by agonist-promoted ubiquitination.	42
16825342	2006	Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.	42
17229917	2007	Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.	34
19086053	2009	Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.	34

Citation

Dessen P

AVPR2 (arginine vasopressin receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/732/avpr2