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FLASH GENE

Symbol

AVPR2

contributors: npt/mct/pgu - updated : 11-07-2022

HGNC name	arginine vasopressin receptor 2
HGNC id	897

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-linked glycosylation site
	seven transmembrane segments (7TM) receptor
	numerous ser/Thr residues at the C terminus

HOMOLOGY

Homologene

FAMILY

G protein coupled receptor superfamily

CATEGORY

signaling hormone , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nuclear envelope

basic FUNCTION	the counteractivity of AVPR2 and AVPR1A could be required to maintain minimum urine volume in the dehydrated state
	key component involved in renal water reabsorption
	presence in primary cilia of renal epithelial cells, and with a functional cAMP-signaling pathway, which targets ciliary channel function, may help control the sensory function of the primary cilium
	exhibits mostly important properties for hydroosmotic equilibrium and, to a lesser extent, on vasomotricity
	main functions of AVPR2 in principal cells of the collecting duct are water, salt, and urea transport by modifying the trafficking of aquaporin 2, epithelial Na(+) channels, and urea transporters
	its activation promotes microvascular permeability in sepsis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

hormonal

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with NFKB and AQP2 (NF-kappaB activation is of importance for the downregulation of AQP2 channel and AVPR2 expression during sepsis)
	functionally and conformationally activate ARRB1
	ELF5 is a principal cell lineage specific transcription factor in the kidney that contributes to AQP2 and AVPR2 gene expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DIR1 , SIADH

related resource

Neprhogenic diabetes Insipidus

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     contiguous gene syndrome encompassing L1CAM, in patients with congenital hydrocephalus and diabetes insipidus constitutional   deletion     contiguous gene syndrome of severe combined immunodeficiency and nephrogenic diabetes insipidus in Xq28 deletion encompassing ARHGAP4 and ARD1A constitutional       gain of function gain of basal functionals may contribute to the increased urine concentration abilities and, therefore, provide an advantage to maintain water and electrolyte homeostasis under limited water supply conditions constitutional     --over   significantly higher in the inner ear Meniere patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may be a marker for detecting Pulmonary hypertension (PH)
Therapy target
	System Type Disorder Pubmed miscelleaneous urinary chronic kidney disease most promising targets for future therapeutic development in Polycystic kidney disease (PKD)are those that target upstream signaling events at cell membranes, such as the vasopressin-2 receptor (AVPR2), EGFR/ERBB2

ANIMAL & CELL MODELS