AVPR2 - arginine vasopressin receptor 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 554

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	Referencias	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	Referencias	Source
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	9322919	GOA

Cellular Component GO Annotation	Evidence	Referencias	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
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
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-P0049A	Argipressin diacetate		/	Unkown

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS01287	AVPR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01288	Avpr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01289	Avpr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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