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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AQP2 Gene

protein-coding   GIFtS: 65
GCID: GC12P050400

aquaporin 2 (collecting duct)
 Explore 40 diseases affiliated with
AQP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AQP2    

Aliases
for AQP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aquaporin 2 (Collecting Duct)1 2     ADH Water Channel2 3
Collecting Duct Water Channel Protein2 3     Aquaporin-21
Water Channel Protein For Renal Collecting Duct2 3     Aquaporin-CD3
AQP-22 3     Water-Channel Aquaporin 22
AQP-CD2 3     Aquaporin-CD3
WCH-CD2 3     

External Ids:    HGNC: 6341   Entrez Gene: 3592   Ensembl: ENSG000001675807   OMIM: 1077775   UniProtKB: P411813   

Export aliases for AQP2 gene to outside databases

Previous GC identifers: GC12P050639 GC12P050061 GC12P048630 GC12P047376


Summaries
for AQP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AQP2:
This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin
family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to
autosomal dominant and recessive forms of nephrogenic diabetes insipidus. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181
Function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high
permeability to water, thereby permitting water to move in the direction of an osmotic gradient

Gene Wiki entry for AQP2 (Aquaporin 2)


Genomic Views
for AQP2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AQP2 gene promoter:
         Sp1   p53   HSF1 (long)   Lmo2   C/EBPalpha   Evi-1   HSF1short   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AQP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AQP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12-q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q12-q13

AQP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P050400:  view genomic region     (about GC identifiers)

Start:
 50,344,524 bp from pter      End:
 50,352,664 bp from pter
Size:
 8,141 bases      Orientation:
 plus strand

Proteins
for AQP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181 (See protein sequence)
Recommended Name: Aquaporin-2  
Size: 271 amino acids; 28837 Da
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane
protein (By similarity). Cytoplasmic vesicle membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi
network membrane; Multi-pass membrane protein. Note=Shuttles from vesicles to the apical membrane.
Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane. PLEKHA8/FAPP2 is
required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated
Secondary accessions: Q9UD68

Explore the universe of human proteins at neXtProt for AQP2: NX_P41181

Post-translational modifications:

  • Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not
    • phosphorylation-dependent1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P41181

    • AQP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000477.1  
    ENSEMBL proteins: 
     ENSP00000447148   ENSP00000199280   ENSP00000450022  
    Reactome Protein details: P41181
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    Uscn Proteins for AQP2

    Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000267cell fraction ----
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm ----
    GO:0005764lysosome IEA--
    GO:0005769early endosome IEA--


    AQP2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AQP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AQP2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022357 MIP_CS
     IPR023271 Aquaporin-like
     IPR000425 MIP

    Graphical View of Domain Structure for InterPro Entry P41181

    ProtoNet protein and cluster: P41181

    1 Blocks protein family: IPB000425 MIP family

    UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181
    Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop
    with the signature motif Asn-Pro-Ala (NPA)
    Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


    Function
    for AQP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181
    Function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high
    permeability to water, thereby permitting water to move in the direction of an osmotic gradient

         Genatlas biochemistry entry for AQP2:
    aquaporin 2,water channel forming integral protein in the kidney's collecting duct (MIP family),translocating from
    intracellular vesicles to the apical plasma membrane,therefore increasing water predominantly in response to
    vasopressin (AVP)

    miRNA
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    hsa-miR-520f hsa-miR-193a-3p hsa-miR-4305 hsa-miR-25 hsa-miR-650 hsa-miR-29b-1* hsa-miR-3116 hsa-miR-3612
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005215transporter activity ----
    GO:0005372water transmembrane transporter activity IDA9321919
    GO:0005515protein binding ----
    GO:0015168glycerol transmembrane transporter activity IDA8584435


    AQP2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AQP2:
     Decreased Wnt reporter activit 

    Animal Models:
         Mouse knock-out Aqp2tm1.1Nlsn for AQP2
         8 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Aqp2):
     behavior/neurological  growth/size  hematopoietic system  homeostasis/metabolism  integument 
     mortality/aging  renal/urinary system  reproductive system 

    AQP2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AQP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Water Balance by Renal Aquaporins
    		Regulation of Water Balance by Renal Aquaporins1.00
    		Aquaporin-mediated transport0.84
    2Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    3Translocation of Aquaporin-2 from Intracellular Vesicles to the Apical Plasma Membrane
    		Translocation of Aquaporin-2 from Intracellular Vesicles to the Apical Plasma Membrane1.00
    4Passive Transport by Aquaporins
    		Passive Transport by Aquaporins1.00
    5Vasopressin-regulated water reabsorption
    		Vasopressin-regulated water reabsorption1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP2
        eNOS Signaling

    1 Cell Signaling Technology (CST) Pathway for AQP2
        Glucose / Energy Metabolism

    5        Reactome Pathways for AQP2
        Transmembrane transport of small molecules
    Aquaporin-mediated transport
    Translocation of Aquaporin-2 from Intracellular Vesicles to the Apical Plasma Membrane
    Regulation of Water Balance by Renal Aquaporins
    Passive Transport by Aquaporins


    1         Kegg Pathway  (Kegg details for AQP2):
        Vasopressin-regulated water reabsorption


    AQP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AQP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/16 Interacting proteins for AQP2 (P411813 ENSP000001992804) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACTBP607093I2D: score=1 
    SIPA1Q96FS43I2D: score=1 
    AQP1ENSP000003111654STRING: ENSP00000311165
    AQP3ENSP000002979914STRING: ENSP00000297991
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003097renal water transport IEA--
    GO:0006833water transport TAS--
    GO:0006884cell volume homeostasis IEA--
    GO:0006915apoptotic process IEA--
    GO:0006972hyperosmotic response IEA--


    AQP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AQP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AQP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AQP2

    1 HMDB Compound for AQP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/47 Novoseek chemical compound relationships for AQP2 gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    desmopressin 78.5 32 15610254 (3), 18596116 (2), 8730418 (2), 19666909 (2) (see all 15)
    arginine 72.1 62 19666909 (6), 11297601 (2), 12388395 (2), 18824919 (2) (see all 39)
    sodium 53.9 19 18728933 (2), 16713495 (1), 16773405 (1), 11297601 (1) (see all 15)
    lithium 50 24 18596116 (5), 20032119 (3), 15610254 (3), 12817904 (2) (see all 11)
    forskolin 47.6 27 9435270 (4), 15569313 (3), 8780259 (2), 16303856 (2) (see all 14)
    hgcl2 42.8 2 8798691 (1), 9435270 (1)
    urea 41.5 5 17202415 (1), 12388395 (1), 7540850 (1), 18826972 (1)
    creatinine 36.2 38 18596116 (2), 15458431 (2), 9797845 (2), 10372737 (2) (see all 15)
    glycerol 35.8 6 9593782 (2), 10574954 (1), 7540850 (1), 17044001 (1)
    chloride 30.5 4 16713495 (1), 18717646 (1), 16093448 (1)

    Search CenterWatch for drugs/clinical trials and news about AQP2 

    Transcripts
    for AQP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for AQP2 gene: 
    NM_000486.5  

    Unigene Cluster for AQP2:

    Aquaporin 2 (collecting duct)
    Hs.130730  [show with all ESTs]
    Unigene Representative Sequence: NM_000486
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551526 ENST00000199280(uc001rvn.3) ENST00000550862

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    hsa-miR-520f hsa-miR-193a-3p hsa-miR-4305 hsa-miR-25 hsa-miR-650 hsa-miR-29b-1* hsa-miR-3116 hsa-miR-3612
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK055824.1 AK225940.1 BC042496.1 CR542024.1 S73196.1 S73197.1 

    3 DOTS entries:

    DT.409482  DT.100709571  DT.100729035 

    24/52 AceView cDNA sequences (see all 52):

    AW236125 AI701621 AI792401 BM923378 NM_000486 AI284339 BM924385 AL036108 
    BI760257 BG430071 BI759314 BF222027 AK055824 AW204506 BE645905 CR542024 
    AW204305 BM674980 AW195004 BE501883 AI478213 AA602384 BC042496 AA910952 

    GeneLoc Exon Structure


    Expression
    for AQP2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AQP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGACAGGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AQP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    KidneyRenal Collecting Duct SystemPrincipal CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mouse ureteric bud cells (CMUB-1) (Cell line)Kidney

    See AQP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AQP2

    SOURCE GeneReport for Unigene cluster: Hs.130730

    UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181
    Tissue specificity: Expressed in renal collecting tubules

        SABiosciences Expression via Pathway-Focused PCR Arrays including AQP2: 
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              Diabetes in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

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    In Situ
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    Orthologs
    for AQP2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AQP2 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AQP21 aquaporin 2 (collecting duct) 73.51(n)
    79.48(a)    		   431304  XM_428855.3  XP_428855.3 
    lizard
    (Anolis carolinensis)    		 Reptilia AQP26
    --
    		 --
    		 75(a)
    60(a)
    		 1 ↔ 1
    possible ortholog
    		 2(96116437-96130269)
    2(92260639-92271654)
    African clawed frog
    (Xenopus laevis)    		 Amphibia aqp-A2 aquaporin 71.7(n)    AY151156.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG77773 water transporter 38(a)   47F13   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons TIP1;31 aquaporin TIP1-3 46.54(n)
    39.61(a)    		   828051  NM_116377.1  NP_192056.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.123452 Oryza sativa (japonica cultivar-group) OsTIP2 mRNA more 74.7(n)    AB114830.1 


    ENSEMBL Gene Tree for AQP2 (if available)
    TreeFam Gene Tree for AQP2 (if available) 

    Paralogs
    for AQP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AQP2 gene
    ENSG000002504242  AQP82  MIP2  AQP52  AQP12  AQP42  AQP62  
    7 SIMAP similar genes for AQP2 using alignment to 5 protein entries:     AQP2_HUMAN (see all proteins):
    AQP5    AQP6    MIP    AQP4    DKFZp434D2030    AQP1
    AQP8

    AQP2 for paralogs           About GeneDecksing



    Genomic Variants
    for AQP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/305 NCBI SNPs in AQP2 are shown (see all 305)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048943361,2
    		Cpathogenic47376247(+) CACTCC/GTCTTC 2 L V mis10--------
    rs289315801,2
    		Cpathogenic47376353(+) GGTACA/CGGCTC 2 Q P mis1 ese32Minor allele frequency- C:0.00NA 4
    rs1048943261,2
    		Cpathogenic47376373(+) TAAGCA/GGGGCC 2 R G mis10--------
    rs1048943311,2
    		Cpathogenic47376386(+) CATCAA/C/GCCCTG 3 N T S mis11EU 567
    rs1048943381,2
    		Cpathogenic47376482(+) GGCCGG/TAGCCG 2 G V mis10--------
    rs1048943301,2
    		Cpathogenic47379524(+) CACGAC/TGGCTG 2 T M mis10--------
    rs1048943351,2
    		Cpathogenic47379670(+) TCCTTA/GGGGTA 2 R G mis10--------
    rs1048943281,2
    		Cpathogenic47380016(+) CTGCCC/TGCTCC 2 R C mis10--------
    rs1048943291,2
    		Cpathogenic47380791(+) TGGGCC/TCCCTC 2 P S mis10--------
    rs1048943321,2
    		Cpathogenic47380917(+) CGGTGA/GAGCTG 2 K E mis10--------

    HapMap Linkage Disequilibrium report for AQP2 (50344524 - 50352664 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for AQP2
         1 Indel: 60088
    Human Gene Mutation Database (HGMD): AQP2

    Locus Specific Mutation Databases (LSDB): AQP2

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for AQP2

    Disorders / Diseases
    for AQP2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AQP2 for disorders           About GeneDecksing

    OMIM gene information: 107777   
    OMIM disorders: 125800  
    UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181
  • Defects in AQP2 are the cause of diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]; also known as
    • diabetes insipidus nephrogenic type 2. ANDI is caused by the inability of the renal collecting ducts to absorb water
    in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine
    excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive

    20/40 diseases for AQP2 (see all 40):    About MalaCards
    nephrogenic diabetes insipidus    diabetes insipidus    endolymphatic hydrops    inappropriate adh syndrome
    neurohypophyseal diabetes insipidus    renal clear cell carcinoma    enuresis    congestive heart failure
    ureteral obstruction    hypercalciuria    hypopituitarism    metabolic disorders
    diabetic ketoacidosis    liver cirrhosis    hepatorenal syndrome    pyelonephritis
    cystic fibrosis    polycystic kidney disease    acute pyelonephritis    meniere's disease

    8 diseases from the University of Copenhagen DISEASES database for AQP2:
    Nephrogenic diabetes insipidus     Diabetes insipidus     Inappropriate ADH syndrome     Neurohypophyseal diabetes insipidus
    Urinary tract obstruction     Endolymphatic hydrops     Ureteral disease     Kidney failure

    10/42 Novoseek disease relationships for AQP2 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes insipidus nephrogenic 97.1 121 18519086 (3), 17009073 (2), 20142913 (2), 14593099 (2) (see all 77)
    water balance disorders 95 9 10073616 (2), 9818197 (1), 11320486 (1), 18655910 (1) (see all 8)
    diabetes insipidus, nephrogenic, autosomal recessive 94.6 12 9024277 (1), 8743482 (1), 7541187 (1), 7540850 (1) (see all 7)
    antidiuresis 81.5 13 11297601 (3), 8793791 (1), 17727573 (1), 15012730 (1) (see all 9)
    central diabetes insipidus 74.9 12 10766399 (3), 9177390 (2), 10372737 (2), 20142913 (1) (see all 6)
    siadh 67.9 7 10667046 (1), 11320486 (1), 11297601 (1), 9729504 (1) (see all 5)
    hyperosmolality 67.6 4 16288724 (1), 10910438 (1)
    hyponatremia 59.7 10 11297601 (3), 10026831 (1), 9756091 (1), 9736267 (1) (see all 7)
    endolymphatic hydrops 55.8 2 12151754 (1), 17070001 (1)
    enuresis 53.4 17 11832768 (3), 11581001 (2), 11004218 (2), 9165602 (1) (see all 6)

    GeneTests: AQP2
    Nephrogenic Diabetes Insipidus

    Human Genome Epidemiology (HuGE) Navigator: AQP2 (9 documents)

    Export disorders for AQP2 gene to outside databases

    Publications
    for AQP2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AQP2 gene, integrated from 9 sources (see all 373):
    (articles sorted by number of sources associating them with AQP2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. (PubMed id 9649557)1, 2, 9 Mulders S.M.... Deen P.M.T. (1998)
    2. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. (PubMed id 9048343)1, 2, 9 Mulders S.M.... Deen P.M.T. (1997)
    3. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PubMed id 16845277)1, 2, 9 Carroll P.... Meyer B.F. (2006)
    4. Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. (PubMed id 19701945)1, 2, 9 Kamsteeg E.-J.... Deen P.M.T. (2009)
    5. 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)1, 2, 9 Marr N.... Deen P.M.T. (2002)
    6. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. (PubMed id 9302264)1, 2, 9 Canfield M.C....Holtzman E.J. (1997)
    7. Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13. (PubMed id 7512890)1, 3, 9 Deen P.M....van Os C.H. (1994)
    8. 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)1, 2, 9 Savelkoul P.J.M.... Deen P.M.T. (2009)
    9. The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel. (PubMed id 12194985)1, 2, 9 van Balkom B.W.M.... Deen P.M.T. (2002)
    10. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. (PubMed id 12191971)1, 2, 9 Marr N.... Deen P.M. (2002)

    External Searches for AQP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AQP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 359 HGNC: 634 AceView: AQP2 Ensembl:ENSG00000167580 euGenes: HUgn359
    ECgene: AQP2 Kegg: 359 H-InvDB: AQP2

    Other Databases showing AQP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AQP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AQP2 Pharmacogenomics, SNPs, Pathways
    Nephrogenic and neurogenic Diabetes Insipidushttp://www.medicine.mcgill.ca/nephros/aqp2.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AQP2

    Intellectual Property
    for AQP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AQP2 gene:
    Search GeneIP for patents involving AQP2

    GeneCards and IP:
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