Details for: AQP2

Gene ID: 359

Symbol: AQP2

Ensembl ID: ENSG00000167580

Description: aquaporin 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: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 8.2920
    Cell Significance Index: 31.7500
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 5.2248
    Cell Significance Index: 17.9400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.3517
    Cell Significance Index: 89.8100
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.1959
    Cell Significance Index: 23.2400
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.1631
    Cell Significance Index: 25.1500
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.5495
    Cell Significance Index: 7.7300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.0165
    Cell Significance Index: 16.7500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.3617
    Cell Significance Index: 2.7700
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.3288
    Cell Significance Index: 3.6800
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.3088
    Cell Significance Index: 3.3300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2374
    Cell Significance Index: 3.4000
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.2200
    Cell Significance Index: 2.1000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.1176
    Cell Significance Index: 2.0100
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.1103
    Cell Significance Index: 0.9300
  • Cell Name: sperm (CL0000019)
    Fold Change: 0.0960
    Cell Significance Index: 0.3200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.0912
    Cell Significance Index: 1.2500
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.0677
    Cell Significance Index: 0.6100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.0437
    Cell Significance Index: 0.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0319
    Cell Significance Index: 0.8400
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.0219
    Cell Significance Index: 0.2000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.0126
    Cell Significance Index: 0.3700
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.0043
    Cell Significance Index: 0.0500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0015
    Cell Significance Index: 1.1000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0012
    Cell Significance Index: 0.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0001
    Cell Significance Index: 0.1100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0001
    Cell Significance Index: 0.0000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0002
    Cell Significance Index: -0.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0008
    Cell Significance Index: -1.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0008
    Cell Significance Index: -1.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0030
    Cell Significance Index: -1.6500
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0039
    Cell Significance Index: -0.0400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0043
    Cell Significance Index: -1.2400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0050
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0056
    Cell Significance Index: -0.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0061
    Cell Significance Index: -3.9000
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0072
    Cell Significance Index: -0.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0087
    Cell Significance Index: -1.7400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0093
    Cell Significance Index: -4.2200
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0095
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0099
    Cell Significance Index: -1.1300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0121
    Cell Significance Index: -0.5700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0152
    Cell Significance Index: -0.3800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0181
    Cell Significance Index: -1.8800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0213
    Cell Significance Index: -0.2900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0225
    Cell Significance Index: -2.3000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.0245
    Cell Significance Index: -0.3200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0279
    Cell Significance Index: -4.0500
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0348
    Cell Significance Index: -0.3800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0351
    Cell Significance Index: -0.4000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0379
    Cell Significance Index: -0.7400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0425
    Cell Significance Index: -1.5600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0430
    Cell Significance Index: -3.4100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0440
    Cell Significance Index: -1.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0455
    Cell Significance Index: -1.3100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0460
    Cell Significance Index: -0.6600
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0487
    Cell Significance Index: -0.5600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0491
    Cell Significance Index: -1.2500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0502
    Cell Significance Index: -0.6500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0505
    Cell Significance Index: -1.3500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0531
    Cell Significance Index: -1.0500
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.0535
    Cell Significance Index: -0.5500
  • Cell Name: CD141-positive myeloid dendritic cell (CL0002394)
    Fold Change: -0.0536
    Cell Significance Index: -0.5800
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0552
    Cell Significance Index: -0.3600
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: -0.0556
    Cell Significance Index: -0.5900
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: -0.0558
    Cell Significance Index: -0.6200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0579
    Cell Significance Index: -1.8300
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: -0.0615
    Cell Significance Index: -0.6500
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: -0.0630
    Cell Significance Index: -0.5100
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0642
    Cell Significance Index: -0.6900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0648
    Cell Significance Index: -1.5700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0648
    Cell Significance Index: -1.0400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0653
    Cell Significance Index: -3.4000
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.0654
    Cell Significance Index: -0.7600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0660
    Cell Significance Index: -1.1100
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: -0.0664
    Cell Significance Index: -0.5300
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.0706
    Cell Significance Index: -0.9000
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.0726
    Cell Significance Index: -0.6600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0745
    Cell Significance Index: -1.9900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0746
    Cell Significance Index: -1.5000
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0759
    Cell Significance Index: -0.5500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0765
    Cell Significance Index: -1.0200
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0787
    Cell Significance Index: -1.0500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0803
    Cell Significance Index: -0.8000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0812
    Cell Significance Index: -1.7600
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0825
    Cell Significance Index: -0.8700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0836
    Cell Significance Index: -1.8300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0841
    Cell Significance Index: -1.7900
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0852
    Cell Significance Index: -1.0700
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0867
    Cell Significance Index: -0.9800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0868
    Cell Significance Index: -1.2600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0894
    Cell Significance Index: -1.3200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0902
    Cell Significance Index: -1.1400
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.0903
    Cell Significance Index: -0.4300
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: -0.0907
    Cell Significance Index: -0.8500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0912
    Cell Significance Index: -3.1700
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.0912
    Cell Significance Index: -1.0200
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.0923
    Cell Significance Index: -1.1400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0948
    Cell Significance Index: -1.3500

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:** 1. **Structure and Function:** AQP2 is a type II transmembrane protein consisting of six transmembrane domains, with four hydrophilic N-terminal domains and two hydrophobic C-terminal domains. Its structure allows for the formation of a water-filled pore, enabling the transport of water across the cell membrane. 2. **Expression and Regulation:** AQP2 is primarily expressed in the collecting duct of the kidney, where it is regulated by vasopressin, also known as antidiuretic hormone (ADH). Vasopressin increases AQP2 expression and activity in response to water deprivation, leading to increased water reabsorption and concentrated urine. 3. **Cellular Localization:** AQP2 is localized to the apical membrane of collecting duct cells, where it regulates water transport. It is also found in other tissues, including the brain, pancreas, and placenta. **Pathways and Functions:** AQP2 is involved in various cellular processes, including: 1. **Renal Water Homeostasis:** AQP2 regulates water transport across the collecting duct, allowing for the concentration of urine and maintenance of blood pressure. 2. **Cell Migration and Differentiation:** AQP2 has been implicated in the migration and differentiation of cells, including oligodendrocyte precursor cells and granulocyte-monocyte progenitor cells. 3. **Cell Survival:** AQP2 has been shown to regulate cell survival by modulating the activity of various signaling pathways. 4. **Glycerol Transport:** AQP2 is also involved in the transport of glycerol across cell membranes, which is essential for maintaining blood sugar levels and preventing hypoglycemia. **Clinical Significance:** Dysregulation of AQP2 has been implicated in various diseases, including: 1. **Nephrogenic Diabetes Insipidus (NDI):** AQP2 deficiency or dysfunction leads to NDI, a condition characterized by excessive urine production and polyuria. 2. **X-linked Nephrogenic Diabetes Insipidus:** AQP2 mutations have been identified in patients with X-linked NDI, highlighting the importance of AQP2 in renal water homeostasis. 3. **Kidney Disease:** AQP2 expression and function have been altered in various kidney diseases, including chronic kidney disease and acute kidney injury. In conclusion, AQP2 is a critical protein involved in regulating water balance in the body, with implications for renal function, cell migration, differentiation, and survival. Further research into the mechanisms of AQP2 regulation and its role in disease will provide valuable insights into the development of novel therapeutic strategies for the treatment of various kidney and other diseases.

Genular Protein ID: 3087139650

Symbol: AQP2_HUMAN

Name: Aquaporin-2

UniProtKB Accession Codes:

P41181 Q9UD68

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 2 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8140421

Title: Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

PubMed ID: 8140421

DOI: 10.1126/science.8140421

PubMed ID: 7522228

Title: Isolation of human aquaporin-CD gene.

PubMed ID: 7522228

DOI: 10.1016/s0021-9258(17)31537-5

PubMed ID: 7524315

Title: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

PubMed ID: 7524315

PubMed ID: 7510718

Title: Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.

PubMed ID: 7510718

DOI: 10.1172/jci117079

PubMed ID: 11929850

Title: Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.

PubMed ID: 11929850

DOI: 10.1093/hmg/11.7.779

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: 12194985

Title: The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel.

PubMed ID: 12194985

DOI: 10.1074/jbc.m207525200

PubMed ID: 32176498

Title: Micropeptide MIAC Inhibits HNSCC Progression by Interacting with Aquaporin 2.

PubMed ID: 32176498

DOI: 10.1021/jacs.0c00706

PubMed ID: 36117171

Title: Micropeptide MIAC inhibits the tumor progression by interacting with AQP2 and inhibiting EREG/EGFR signaling in renal cell carcinoma.

PubMed ID: 36117171

DOI: 10.1186/s12943-022-01654-1

PubMed ID: 24733887

Title: X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.

PubMed ID: 24733887

DOI: 10.1073/pnas.1321406111

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: 9302264

Title: Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.

PubMed ID: 9302264

DOI: 10.1093/hmg/6.11.1865

PubMed ID: 9048343

Title: New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.

PubMed ID: 9048343

DOI: 10.1681/asn.v82242

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: 9550615

Title: Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.

PubMed ID: 9550615

DOI: 10.2169/internalmedicine.37.215

PubMed ID: 9649557

Title: An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

PubMed ID: 9649557

DOI: 10.1172/jci2605

PubMed ID: 9745427

Title: Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

PubMed ID: 9745427

DOI: 10.1210/jcem.83.9.5074

PubMed ID: 12191971

Title: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

PubMed ID: 12191971

DOI: 10.1097/01.asn.0000027355.41663.14

PubMed ID: 12050236

Title: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

PubMed ID: 12050236

DOI: 10.1210/jcem.87.6.8617

PubMed ID: 15509592

Title: A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

PubMed ID: 15509592

DOI: 10.1093/hmg/ddh339

PubMed ID: 16120822

Title: Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

PubMed ID: 16120822

DOI: 10.1681/asn.2005010104

PubMed ID: 16361827

Title: Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

PubMed ID: 16361827

DOI: 10.3346/jkms.2005.20.6.1076

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: 19585583

Title: p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

PubMed ID: 19585583

DOI: 10.1002/humu.21082

PubMed ID: 19701945

Title: Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

PubMed ID: 19701945

DOI: 10.1002/humu.21068

PubMed ID: 24944815

Title: Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

PubMed ID: 24944815

DOI: 10.3892/br.2014.283

Sequence Information:

  • Length: 271
  • Mass: 28837
  • Checksum: C2DDE2AF4DDD192A
  • Sequence:
    • MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG 
HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA 
LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG 
CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL 
EPDTDWEERE VRRRQSVELH SPQSLPRGTK A

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.