1. Gene
  2. AVPR2 - arginine vasopressin receptor 2 Gene

AVPR2 - arginine vasopressin receptor 2 Gene

中文名称:精氨酸加压素受体 2

种属: Homo sapiens

同用名: DI1; DIR; NDI; V2R; ADHR; DIR3; NDI1

基因 ID: 554 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 2 型加压素受体,也称为 V2 受体,属于七跨膜结构域 G 蛋白偶联受体 (GPCR) 超家族,并与 Gs 偶联,从而刺激腺苷酸环化酶。包括 V2 受体、V1a 和 V1b 加压素受体、催产素受体以及非哺乳动物中的同位素和间产素受体在内的亚家族非常保守,尽管有几个成员通过其他 G 蛋白发出信号。所有结合相似的环状九肽激素。 V2 受体在肾小管中表达,主要在远曲小管和集合管中表达,其主要特性是通过刺激浓缩尿液和维持机体水稳态的机制来响应垂体激素精氨酸加压素 (AVP) .当该基因的功能丧失时,就会导致肾源性尿崩症 (NDI) 。 V2 受体也在肾脏外表达,但其组织定位尚不确定。当这些“肾外受体”受到输注 V2 选择性激动剂 (dDAVP) 的刺激时,多种凝血因子会释放到血液中。该特性的生理重要性尚不清楚——它的缺失似乎对 NDI 患者无害。在与选择性剪接相关的胎儿肺组织和肺癌中也描述了基因表达。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12409230 GOA
enables vasopressin receptor activity IDA
IDA: 通过直接分析推断
9322919 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
9322919 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endocytic vesicle IDA
IDA: 通过直接分析推断
14757828 GOA
located in endosome IDA
IDA: 通过直接分析推断
14757828 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
14757828 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
14757828 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AVPR2 蛋白结构

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (55 - 325)

  • 0
  • 100
  • 200
  • 300
  • 371 a.a.
蛋白主名 其他名称

vasopressin V2 receptor

AVPR V2

antidiuretic hormone receptor

renal-type arginine vasopressin receptor

AVPR2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
AVPR2 P30518 SLC41A1 Homo sapiens Q8IVJ1
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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