Details for: AVPR2

Gene ID: 554

Symbol: AVPR2

Ensembl ID: ENSG00000126895

Description: arginine vasopressin receptor 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.5014
    Cell Significance Index: 8.8600
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.2092
    Cell Significance Index: 1.7700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0642
    Cell Significance Index: 0.7300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0023
    Cell Significance Index: -0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0026
    Cell Significance Index: -4.8700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0048
    Cell Significance Index: -3.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0056
    Cell Significance Index: -3.5600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.6200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0063
    Cell Significance Index: -4.7600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0083
    Cell Significance Index: -4.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0132
    Cell Significance Index: -5.9700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0135
    Cell Significance Index: -0.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0173
    Cell Significance Index: -4.9900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0175
    Cell Significance Index: -0.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0189
    Cell Significance Index: -3.4100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0228
    Cell Significance Index: -3.9000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0229
    Cell Significance Index: -4.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0237
    Cell Significance Index: -4.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0258
    Cell Significance Index: -3.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0267
    Cell Significance Index: -3.4200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0272
    Cell Significance Index: -3.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0312
    Cell Significance Index: -4.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0335
    Cell Significance Index: -3.4200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0356
    Cell Significance Index: -4.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0413
    Cell Significance Index: -5.6700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0457
    Cell Significance Index: -0.6500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0535
    Cell Significance Index: -3.9900
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.0603
    Cell Significance Index: -0.5500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0690
    Cell Significance Index: -1.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0708
    Cell Significance Index: -5.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0802
    Cell Significance Index: -3.7700
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0875
    Cell Significance Index: -1.2000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0953
    Cell Significance Index: -1.3700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1081
    Cell Significance Index: -2.7000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1088
    Cell Significance Index: -2.1700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1158
    Cell Significance Index: -3.4100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1177
    Cell Significance Index: -3.0000
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: -0.1203
    Cell Significance Index: -0.7100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1261
    Cell Significance Index: -5.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1262
    Cell Significance Index: -7.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1334
    Cell Significance Index: -3.6300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1400
    Cell Significance Index: -7.2700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1408
    Cell Significance Index: -4.6100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1472
    Cell Significance Index: -4.2200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1491
    Cell Significance Index: -4.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1494
    Cell Significance Index: -4.1800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1503
    Cell Significance Index: -4.0200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1508
    Cell Significance Index: -2.1900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1519
    Cell Significance Index: -5.3200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1613
    Cell Significance Index: -2.3100
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1614
    Cell Significance Index: -2.2100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1637
    Cell Significance Index: -3.9700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1639
    Cell Significance Index: -2.6300
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.1668
    Cell Significance Index: -2.0500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1673
    Cell Significance Index: -2.1700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1757
    Cell Significance Index: -4.6200
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.1824
    Cell Significance Index: -1.9300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1856
    Cell Significance Index: -4.6300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1862
    Cell Significance Index: -4.7900
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1865
    Cell Significance Index: -3.0200
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: -0.1918
    Cell Significance Index: -1.4200
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.1920
    Cell Significance Index: -2.4800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1938
    Cell Significance Index: -4.9500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1964
    Cell Significance Index: -7.2100
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.2031
    Cell Significance Index: -2.1200
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.2082
    Cell Significance Index: -1.5000
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2102
    Cell Significance Index: -3.5700
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.2116
    Cell Significance Index: -2.8200
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.2122
    Cell Significance Index: -2.5000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2238
    Cell Significance Index: -4.7500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2249
    Cell Significance Index: -3.8800
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.2319
    Cell Significance Index: -2.6900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2321
    Cell Significance Index: -4.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2322
    Cell Significance Index: -3.9800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2327
    Cell Significance Index: -4.3000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2328
    Cell Significance Index: -5.0300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2349
    Cell Significance Index: -4.7800
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.2368
    Cell Significance Index: -2.8800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2371
    Cell Significance Index: -4.7600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2378
    Cell Significance Index: -4.6500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2429
    Cell Significance Index: -3.5900
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: -0.2442
    Cell Significance Index: -2.7700
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.2454
    Cell Significance Index: -3.3700
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.2463
    Cell Significance Index: -3.4100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2480
    Cell Significance Index: -4.8400
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2584
    Cell Significance Index: -3.7800
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.2602
    Cell Significance Index: -3.0800
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2629
    Cell Significance Index: -2.8700
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: -0.2738
    Cell Significance Index: -3.1100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2759
    Cell Significance Index: -4.7700
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: -0.2767
    Cell Significance Index: -2.7100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2792
    Cell Significance Index: -3.0400
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: -0.2838
    Cell Significance Index: -3.0600
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.2852
    Cell Significance Index: -3.4400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2914
    Cell Significance Index: -7.7800
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.2932
    Cell Significance Index: -3.4100
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.2940
    Cell Significance Index: -3.7200
  • Cell Name: plasmablast (CL0000980)
    Fold Change: -0.2947
    Cell Significance Index: -2.7400
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: -0.2996
    Cell Significance Index: -3.1600
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: -0.3001
    Cell Significance Index: -3.2600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** AVPR2 is a G protein-coupled receptor with seven transmembrane domains, which allows it to bind to AVP and trigger a signaling cascade. The receptor is highly selective for AVP, with a high affinity for the hormone. AVPR2 is expressed in various tissues, including the kidney, brain, and blood vessels, where it plays a critical role in regulating water balance, blood pressure, and electrolyte homeostasis. The receptor's expression is also found in immune cells, such as dendritic cells and plasma cells, where it may contribute to the regulation of immune responses. **Pathways and Functions** The activation of AVPR2 by AVP triggers a signaling cascade that involves the stimulation of adenylate cyclase activity, leading to increased intracellular cAMP levels. This, in turn, modulates various cellular processes, including: 1. **Renal water retention**: AVPR2 activation in the kidney collecting duct principal cells leads to increased water reabsorption, resulting in decreased urine output and increased water retention. 2. **Cardiovascular function**: AVPR2 activation in blood vessels leads to vasoconstriction, which increases blood pressure. 3. **Electrolyte homeostasis**: AVPR2 activation in the kidney leads to increased sodium reabsorption and potassium excretion, which helps maintain electrolyte balance. 4. **Immune response**: AVPR2 activation in immune cells, such as dendritic cells and plasma cells, may contribute to the regulation of immune responses, including inflammation and antibody production. **Clinical Significance** Dysregulation of AVPR2 has been implicated in various diseases, including: 1. **Neurohypophyseal diabetes insipidus (NDI)**: A genetic disorder caused by mutations in the AVPR2 gene, leading to defective AVP binding and impaired renal water reabsorption. 2. **Hypertension**: Overactivation of AVPR2 has been linked to increased blood pressure, as it leads to vasoconstriction and sodium reabsorption. 3. **Kidney disease**: AVPR2 dysregulation has been implicated in the progression of kidney disease, including diabetic nephropathy and hypertension-induced kidney damage. 4. **Immune disorders**: AVPR2 dysregulation has been linked to various immune disorders, including multiple sclerosis and rheumatoid arthritis. In conclusion, AVPR2 is a critical regulator of various physiological processes, including renal water homeostasis, cardiovascular function, and immune response. Dysregulation of the receptor has been implicated in various diseases, highlighting the importance of AVPR2 in maintaining human health.

Genular Protein ID: 2455555879

Symbol: V2R_HUMAN

Name: Vasopressin V2 receptor

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1415251

Title: Structure and chromosomal localization of the human antidiuretic hormone receptor gene.

PubMed ID: 1415251

PubMed ID: 1534149

Title: Molecular cloning of the receptor for human antidiuretic hormone.

PubMed ID: 1534149

DOI: 10.1038/357333a0

PubMed ID: 7913579

Title: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

PubMed ID: 7913579

PubMed ID: 8735975

Title: Evidence for expression of vasopressin V2 receptor mRNA in human lung.

PubMed ID: 8735975

DOI: 10.1016/0196-9781(96)00009-5

PubMed ID: 9581826

Title: Expression of all known vasopressin receptor subtypes by small cell tumors implies a multifaceted role for this neuropeptide.

PubMed ID: 9581826

PubMed ID: 19440390

Title: Involvement of the V2 vasopressin receptor in adaptation to limited water supply.

PubMed ID: 19440390

DOI: 10.1371/journal.pone.0005573

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8882880

Title: Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.

PubMed ID: 8882880

DOI: 10.1007/s004390050264

PubMed ID: 9224808

Title: Palmitoylation of the V2 vasopressin receptor.

PubMed ID: 9224808

DOI: 10.1124/mol.52.1.21

PubMed ID: 21056967

Title: Regulation of M(3) muscarinic receptor expression and function by transmembrane protein 147.

PubMed ID: 21056967

DOI: 10.1124/mol.110.067363

PubMed ID: 23236378

Title: Mammalian alpha arrestins link activated seven transmembrane receptors to Nedd4 family e3 ubiquitin ligases and interact with beta arrestins.

PubMed ID: 23236378

DOI: 10.1371/journal.pone.0050557

PubMed ID: 1356229

Title: Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.

PubMed ID: 1356229

DOI: 10.1038/359233a0

PubMed ID: 1303271

Title: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.

PubMed ID: 1303271

DOI: 10.1038/ng1092-99

PubMed ID: 1303257

Title: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.

PubMed ID: 1303257

DOI: 10.1038/ng1092-103

PubMed ID: 8267567

Title: Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

PubMed ID: 8267567

DOI: 10.1006/bbrc.1993.2578

PubMed ID: 8479490

Title: A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.

PubMed ID: 8479490

DOI: 10.1056/nejm199305273282105

PubMed ID: 8514744

Title: Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.

PubMed ID: 8514744

DOI: 10.1016/s0021-9258(19)38614-4

PubMed ID: 8037205

Title: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

PubMed ID: 8037205

PubMed ID: 7999078

Title: Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.

PubMed ID: 7999078

DOI: 10.1006/bbrc.1994.2700

PubMed ID: 7987330

Title: Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.

PubMed ID: 7987330

DOI: 10.1093/hmg/3.8.1429

PubMed ID: 7833930

Title: Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

PubMed ID: 7833930

DOI: 10.1093/hmg/3.9.1685

PubMed ID: 8045948

Title: Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.

PubMed ID: 8045948

DOI: 10.1210/jcem.79.2.8045948

PubMed ID: 7933835

Title: Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.

PubMed ID: 7933835

DOI: 10.1038/ki.1994.256

PubMed ID: 7984150

Title: An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system.

PubMed ID: 7984150

DOI: 10.1210/mend.8.7.7984150

PubMed ID: 8078903

Title: Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

PubMed ID: 8078903

DOI: 10.1073/pnas.91.18.8457

PubMed ID: 7607658

Title: Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.

PubMed ID: 7607658

DOI: 10.1007/bf00214189

PubMed ID: 7560098

Title: Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.

PubMed ID: 7560098

DOI: 10.1172/jci118252

PubMed ID: 8929875

Title: Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.

PubMed ID: 8929875

DOI: 10.1203/00006450-199603000-00022

PubMed ID: 9402087

Title: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

PubMed ID: 9402087

DOI: 10.1681/asn.v8121855

PubMed ID: 9369448

Title: Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.

PubMed ID: 9369448

DOI: 10.1210/mend.11.12.0017

PubMed ID: 9127330

Title: Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.

PubMed ID: 9127330

DOI: 10.1159/000189581

PubMed ID: 9452109

Title: Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.

PubMed ID: 9452109

DOI: 10.1002/humu.1380110188

PubMed ID: 10694923

Title: C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus.

PubMed ID: 10694923

PubMed ID: 9711877

Title: V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

PubMed ID: 9711877

DOI: 10.1002/(sici)1098-1004(1998)12:3<196::aid-humu7>3.0.co;2-f

PubMed ID: 9773787

Title: Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

PubMed ID: 9773787

DOI: 10.1681/asn.v9101861

PubMed ID: 9853256

Title: AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.

PubMed ID: 9853256

DOI: 10.1046/j.1523-1755.1998.00214.x

PubMed ID: 10477431

Title: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.

PubMed ID: 10477431

DOI: 10.1002/(sici)1098-1004(1999)14:3<233::aid-humu6>3.0.co;2-o

PubMed ID: 10820167

Title: Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.

PubMed ID: 10820167

DOI: 10.1681/asn.v1161033

PubMed ID: 10820168

Title: Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.

PubMed ID: 10820168

DOI: 10.1681/asn.v1161044

PubMed ID: 10770218

Title: Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

PubMed ID: 10770218

DOI: 10.1210/jcem.85.4.6507

PubMed ID: 11026555

Title: Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus.

PubMed ID: 11026555

DOI: 10.1016/s0303-7207(00)00236-7

PubMed ID: 11232028

Title: The property of a novel V2 receptor mutant in a patient with nephrogenic diabetes insipidus.

PubMed ID: 11232028

DOI: 10.1210/jcem.86.1.7165

PubMed ID: 11793119

Title: Molecular and cellular defects in nephrogenic diabetes insipidus.

PubMed ID: 11793119

DOI: 10.1007/s004670100051

PubMed ID: 11916004

Title: Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

PubMed ID: 11916004

DOI: 10.1007/s100380200002

PubMed ID: 15872203

Title: Nephrogenic syndrome of inappropriate antidiuresis.

PubMed ID: 15872203

DOI: 10.1056/nejmoa042743

PubMed ID: 16845277

Title: Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

PubMed ID: 16845277

DOI: 10.1097/01.gim.0000223554.46981.7a

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 371
  • Mass: 40279
  • Checksum: 1F87D20A3C0ECB0D
  • Sequence:
  • MLMASTTSAV PGHPSLPSLP SNSSQERPLD TRDPLLARAE LALLSIVFVA VALSNGLVLA 
    ALARRGRRGH WAPIHVFIGH LCLADLAVAL FQVLPQLAWK ATDRFRGPDA LCRAVKYLQM 
    VGMYASSYMI LAMTLDRHRA ICRPMLAYRH GSGAHWNRPV LVAWAFSLLL SLPQLFIFAQ 
    RNVEGGSGVT DCWACFAEPW GRRTYVTWIA LMVFVAPTLG IAACQVLIFR EIHASLVPGP 
    SERPGGRRRG RRTGSPGEGA HVSAAVAKTV RMTLVIVVVY VLCWAPFFLV QLWAAWDPEA 
    PLEGAPFVLL MLLASLNSCT NPWIYASFSS SVSSELRSLL CCARGRTPPS LGPQDESCTT 
    ASSSLAKDTS S

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.