AVPR2 - arginine vasopressin receptor 2 Gene

Homo sapiens

Also known as DI1; DIR; NDI; V2R; ADHR; DIR3; NDI1

Gene ID: 554 | Gene type: protein coding

About AVPR2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,902,625-153,907,166 (from NCBI)

This gene has 5 transcripts (splice variants), 233 orthologues, 16 paralogues and is associated with 4 phenotypes. Broad expression in fat (RPKM 2.2), kidney (RPKM 1.4) and 15 other tissues.

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]

AVPR2 Products(3)

mRNA	Protein	Name
NM_001146151.3	NP_001139623.1	vasopressin V2 receptor isoform 2
NR_027419.2
NM_000054.7	NP_000045.1	vasopressin V2 receptor isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12409230	GOA
enables vasopressin receptor activity	IDA IDA: Inferred from direct assay	9322919	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	9322919	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endocytic vesicle	IDA IDA: Inferred from direct assay	14757828	GOA
located in endosome	IDA IDA: Inferred from direct assay	14757828	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	14757828	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	14757828	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AVPR2 Protein Structure

7tm_1

0
100
200
300
371 a.a.

Protein Preferred Names

Protein Names

vasopressin V2 receptor

AVPR V2	antidiuretic hormone receptor
renal-type arginine vasopressin receptor

AVPR2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	AVPR2	P30518	SLC41A1	Homo sapiens	Q8IVJ1	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Hereditary Nephrogenic Diabetes Insipidus

Bartter Syndrome, Type 5, Antenatal, Transient

Bartter Disease Type 5	BARTS5
Bartter Syndrome Type 5	Bartter Syndrome Type V
Transient Antenatal Bartter Syndrome	Bartter Syndrome 5, Antenatal, Transient

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus	Diabetes Insipidus, Nephrogenic
Diabetes Insipidus Nephrogenic	Congenital Nephrogenic Diabetes Insipidus
Adh Resistant Diabetes Insipidus	Diabetes Insipidus Nephrogenic X-Linked
Diabetes Insipidus Nephrogenic Type 1	Adh-Resistant Diabetes Insipidus
Diabetes Insipidus Renalis	Ndi
Renal Diabetes Insipidus	Familial Nephrogenic Diabetes
Antidiuretic-Hormone-Resistant Diabetes Insipidus	Adiuretin-Resistant Diabetes Insipidus
Ndi - [Nephrogenic Diabetes Insipidus]	Diabetes Tenuifluus
Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus	Hereditary Nephrogenic Diabetes Insipidus
Familial Nephrogenic Diabetes Insipidus	Primary Nephrogenic Diabetes Insipidus

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Diabetes Insipidus, Neurohypophyseal

Neurohypophyseal Diabetes Insipidus	Central Diabetes Insipidus
Cdi	Pituitary Diabetes Insipidus
Vasopressin Defective Diabetes Insipidus	Vasopressin Deficiency
Diabetes Insipidus, Neurogenic	Diabetes Insipidus, Primary Central
Diabetes Insipidus, Cranial Type	Diabetes Insipidus Secondary To Vasopressin Deficiency
Diabetes Insipidus, Central	Diabetes Insipidus, Pituitary
NDI	Diabetes Insipidus Cranial Type
Neurogenic Diabetes Insipidus	Primary Central Diabetes Insipidus

Gestational Diabetes Insipidus

Transient Diabetes Insipidus Of Pregnancy	Diabetes Insipidus Gestational
Gestagenic Diabetes Insipidus	Doid:0081057

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease	Isolated Polycystic Liver Disease
Pcld	Congenital Cystic Liver Disease
Congenital Hepatic Cyst	Fibrocystic Liver Disease
Isolated Autosomal Dominant Polycystic Liver Disease	Adpcld
Liver Disease, Polycystic	Multiple Cysts Of Liver
Pld - [Polycystic Liver Disease]	Polycystic Liver Disorder
Polycystic Liver	Congenital Polycystic Disease Of Liver
Congenital Polycystic Liver Disease

Central Diabetes Insipidus

Neurogenic Diabetes Insipidus	Diabetes Insipidus Cranial Type
Diabetes Insipidus Neurogenic	Diabetes Insipidus Neurohypophyseal
Neurohypophyseal Diabetes Insipidus	Pituitary Diabetes Insipidus
Cdi	Doid:0081055
Diabetes Insipidus	Di - [Diabetes Insipidus]
Adh - [Antidiuretic Hormone Secretion] Deficiency	Diabetes Mellitus Insipidus
Familial Diabetes Insipidus	Antidiuretic Hormone Hyposecretion
Vasopressin Deficiency Syndrome	Primary Central Diabetes Insipidus
Vasopressin Deficiency	Vasopressin Hyposecretion
Diabetes Insipidus Secondary To Vasopressin Deficiency

Diabetes Insipidus, Nephrogenic, 1, X-Linked

Diabetes Insipidus, Nephrogenic, X-Linked	NDI1
Ndi	Diabetes Insipidus, Nephrogenic, Type I
Diabetes Insipidus, Nephrogenic, 1	Diabetes Insipidus, Nephrogenic Type 1
XNDI	Diabetes Insipidus Nephrogenic Type 1

Nephrogenic Syndrome Of Inappropriate Antidiuresis

NSIAD

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Glucocorticoid Deficiency 1

Acth Resistance	Glucocorticoid Deficiency, Due To Acth Unresponsiveness
GCCD1	Familial Glucocorticoid Deficiency 1
Fgd1	Adrenal Unresponsiveness To Acth
Hereditary Unresponsiveness To Adrenocorticotropic Hormone	Isolated Glucocorticoid Deficiency

Diabetes Insipidus

Inappropriate Adh Syndrome

Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone	Siadh
Syndrome Of Inappropriate Antidiuretic Hormone Secretion	Syndrome Of Inappropriate Vasopressin Secretion
Syndrome Of Inappropriate Secretion Of Adh	Inappropriate Secretion Of Antidiuretic Hormone
Syndrome Of Inappropriate Antidiuresis	Siadh - [Syndrome Of Inappropriate Secretion Of Antidiuretic Hormone]
Antidiuretic Hormone Syndrome	Hormone Secretion
Inadequate Antidiuretic Hormone Secretion Syndrome	Schwartz-Bartter Syndrome
Siad - [Syndrome Of Inappropriate Antidiuresis]	Hypersecretion Of Antidiuretic Hormone

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

X-Linked Recessive Disease

Peripheral Vertigo

Vertigo, Peripheral

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Dipsogenic Diabetes Insipidus

Primary Polydipsia	Doid:0081058
Psychogenic Polydipsia

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

Central Pontine Myelinolysis

Myelinolysis, Central Pontine	Osmotic Demyelination Syndrome
Cpm	Myelinolysis Central Pontine
Central Pontine Myelinosis

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Familial Adenomatous Polyposis 1

Gardner Syndrome	Brain Tumor-Polyposis Syndrome 2
Familial Polyposis Of The Colon	Adenomatous Polyposis Coli
FAP1	Adenomatous Polyposis Of The Colon
Apc	Fpc
Gardner'S Syndrome	Polyposis, Adenomatous Intestinal
Adenoma, Periampullary, Somatic	Intestinal Polyposis, Osteomas, Sebaceous Cysts
Polyposis Coli And Multiple Hard And Soft Tissue Tumors	Apc-Related Attenuated Familial Adenomatous Polyposis
Apc-Related Afap	Apc-Related Attenuated Fap
Apc-Related Attenuated Familial Polyposis Coli	Turcot Syndrome With Polyposis
Gardners Syndrome	Adenomatous Polyposis Coli, Susceptibility To
Adenomatous Polyposis, Familial, Type 1

Chronic Congestive Splenomegaly

Bartter Disease

Bartter Syndrome	Bartter'S Syndrome
Aldosteronism With Hyperplasia Of The Adrenal Cortex	Hypokalemic Alkalosis With Hypercalciuria
Potassium Wasting	Juxtaglomerular Hyperplasia With Secondary Aldosteronism
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria	Salt-Losing Tubular Disorder, Henle'S Loop Type
Salt-Wasting Tubulopathy, Henle'S Loop Type	Bartters Syndrome

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Congenital Anomaly Of Heart
Heart Defect	Heart Malformation
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Hypokalemia

Potassium Deficiency	Potassium Deficiency Disorder
Hypopotassemia	Potassium
Potassium [K] Deficiency	Hypokalaemic Syndrome
Hypopotassaemia	Hypopotassaemia Syndrome
Hypokalaemic	Potassium Depletion

Urinary Tract Obstruction

Obstructive Uropathy	Urinary Obstruction
Urologic Diseases

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Pituitary Gland Disease

Pituitary Diseases	Pituitary Dysfunction
Pituitary Disease	Pituitary Deficiency
Pituitary Disorders

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Adrenal Cortex Adenoma	Corticotroph Pituitary Adenoma
Cushing'S Disease	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0049A	Argipressin diacetate		/	Unkown

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01287	AVPR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01288	Avpr2 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01289	Avpr2 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AVPR2	VGNC	VGNC:108053
Canis familiaris	AVPR2	VGNC	VGNC:38320
Rattus norvegicus	AVPR2	RGD	RGD:2186
Felis catus	AVPR2	VGNC	VGNC:68849
Bos taurus	AVPR2	VGNC	VGNC:26360
Mus musculus	AVPR2	MGD	MGI:88123
Others	AVPR2	NCBI