Details for: AVPR2

Gene ID: 554

Symbol: AVPR2

Ensembl ID: ENSG00000126895

Description: arginine vasopressin receptor 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 15.99
    Marker Score: 162079
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.69
    Marker Score: 8274
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 3.42
    Marker Score: 1895
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.2
    Marker Score: 1516
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.42
    Marker Score: 3589
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 873
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.08
    Marker Score: 1203
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71827
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48052.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1
    Marker Score: 525
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5351
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.83
    Marker Score: 635.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.82
    Marker Score: 474
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.64
    Marker Score: 389
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 401
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.58
    Marker Score: 243.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.58
    Marker Score: 1174
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.57
    Marker Score: 1089
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 456
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.55
    Marker Score: 780
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 478
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.49
    Marker Score: 829
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 280
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.45
    Marker Score: 253
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.39
    Marker Score: 781
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.39
    Marker Score: 346
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.38
    Marker Score: 123
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 374
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.37
    Marker Score: 349
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 108
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.33
    Marker Score: 199
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.33
    Marker Score: 330
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.31
    Marker Score: 67
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.31
    Marker Score: 502
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.3
    Marker Score: 172
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.3
    Marker Score: 319
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.26
    Marker Score: 154
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.26
    Marker Score: 236
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.24
    Marker Score: 85
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.22
    Marker Score: 386
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.21
    Marker Score: 352
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.2
    Marker Score: 109
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.2
    Marker Score: 259
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.19
    Marker Score: 78
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.18
    Marker Score: 43
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.17
    Marker Score: 75
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.16
    Marker Score: 102
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.16
    Marker Score: 234
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.15
    Marker Score: 219
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.15
    Marker Score: 78
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.14
    Marker Score: 78
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.13
    Marker Score: 2046
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 0.12
    Marker Score: 304
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.11
    Marker Score: 23
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.11
    Marker Score: 41
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.11
    Marker Score: 344.5
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.11
    Marker Score: 56
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.11
    Marker Score: 101
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.11
    Marker Score: 168
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.1
    Marker Score: 97
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.1
    Marker Score: 64
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 0.1
    Marker Score: 82
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.09
    Marker Score: 59
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.09
    Marker Score: 22
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.09
    Marker Score: 21
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.09
    Marker Score: 23
  • Cell Name: vasa recta descending limb cell (CL1001285)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.07
    Marker Score: 142
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.07
    Marker Score: 14
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.07
    Marker Score: 15
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.07
    Marker Score: 69
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.07
    Marker Score: 43.5
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.07
    Marker Score: 135
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.06
    Marker Score: 62
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.06
    Marker Score: 21
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.06
    Marker Score: 66
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.06
    Marker Score: 19
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.06
    Marker Score: 23
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.05
    Marker Score: 99

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Other Information

## Summary: AVPR2 is a protein that is expressed in many cell types, including neurons, oligodendrocytes, and endothelial cells. It is a member of the vasopressin receptor family of G protein-coupled receptors. ## Key characteristics: * It is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is a ligand-gated channel that is expressed in the plasma membrane. * It is a key regulator of renal water homeostasis. * It is involved in the regulation of blood volume, blood pressure, and the transport of water and ions across the blood-brain barrier. ## Pathways and functions: * **Aquaporin-mediated transport:** AVPR2 is a key regulator of water and solute transport across the blood-brain barrier. It is expressed in the blood-brain barrier complex, which is responsible for maintaining the water and electrolyte balance of the brain. When AVPR2 binds to vasopressin, it opens the channel, allowing water to flow from an area of higher water concentration to an area of lower water concentration. This process helps to regulate blood volume and blood pressure. * **Cargo recognition for clathrin-mediated endocytosis:** AVPR2 is also involved in the recognition of cargo molecules for clathrin-mediated endocytosis. Clathrin is a large glycoprotein that is responsible for the formation of clathrin-coated pits, which are small invaginations in the plasma membrane that are used for the internalization of molecules. AVPR2 is a key component of the clathrin-mediated endocytosis pathway, and it is required for the internalization of a variety of proteins, including hormones, growth factors, and neurotransmitters. ## Clinical significance: Mutations in the AVPR2 gene have been linked to the development of several neurological disorders, including neurohypophyseal diabetes insipidus (ndi). Ndi is a genetic disorder caused by mutations in the AVPR2 gene. In ndi, the lack of AVPR2 protein results in a decrease in aquaporin expression in the blood-brain barrier, which leads to a decrease in water and solute transport across the blood-brain barrier. This results in a decrease in blood volume and blood pressure, and can lead to a number of neurological symptoms, including seizures, coma, and death. ## Conclusion: AVPR2 is a key regulator of renal water homeostasis. It is expressed in many cell types, and it plays a critical role in maintaining the water and electrolyte balance of the brain. Mutations in the AVPR2 gene have been linked to the development of several neurological disorders, including neurohypophyseal diabetes insipidus.

Genular Protein ID: 2455555879

Symbol: V2R_HUMAN

Name: Vasopressin V2 receptor

UniProtKB Accession Codes:

P30518 C5HF20 O43192 Q3MJD3 Q9UCV9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 11 DrugCentral 1 ELM 1 EMBL 13 EMDB 8 Ensembl 3 ExpressionAtlas 1 GO 25 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 17 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 6 RefSeq 3 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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. For the full schema, download it here.