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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

Corresponding disease	DIR1 nephrogenic diabetes insipidus, X-linked SIADH inappropriate secretion of antidiuretic hormone
Location	Xq28      Physical location : 153.167.984 - 153.172.619
Synonym name	antidiuretic hormone receptor
	nephrogenic diabetes insipidus
	renal-type arginine vasopressin receptor
Synonym symbol(s)	VR2R, DI1, ADHR, MGC126533, MGC138386, NDI, V2R,

DNA

TYPE	functioning gene
STRUCTURE	4.54 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   HRE
motif	repetitive sequence   other
text structure	short cis-acting element

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - DXS52 - DXS15 - BGN - L1CAM - AVPR2 - DXS80 - RGCP@ - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000054 4 - 1825 NP_000045 40.15 371 . only in the kidney . did not move to the plasma membrane, but it is retained in the ER--Golgi compartments 2011 21534618 V2b receptor has an amino acid sequence identical to that of the V2a receptor up to the sixth transmembrane domain, but the V2b sequences corresponding to the putative seventh transmembrane domain and the carboxyl terminus are different from those of the V2a receptor NM_001146151 3 splicing 1890 NP_001139623 33.6 309 - 2011 21534618 V2a receptor C-terminal sequence beyond the sixth transmembrane of the V2a is required for the stabilization of the seven-transmembrane topology of the receptor and is also essential for the trafficking of the receptor to the plasma membrane

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea     Homo sapiens Urinary kidney tubule collecting duct   highly Homo sapiens   kidney tubule     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Homo sapiens

cell lineage
cell lines	lung cancer cells
fluid/secretion

at STAGE

physiological period

fetal

Text

lung

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