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AQP2 Gene

protein-coding   GIFtS: 67
GCID: GC12P050400

Aquaporin 2 (Collecting Duct)

  See AQP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aquaporin 2 (Collecting Duct)1 2     ADH Water Channel2 3
Collecting Duct Water Channel Protein2 3     aquaporin-22
Water Channel Protein For Renal Collecting Duct2 3     aquaporin-CD2
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AQP2 Gene:
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)

GeneCards Summary for AQP2 Gene:
AQP2 (aquaporin 2 (collecting duct)) is a protein-coding gene. Diseases associated with AQP2 include nephrogenic diabetes insipidus, autosomal, and congenital hydronephrosis. GO annotations related to this gene include actin binding and water transmembrane transporter activity. An important paralog of this gene is ENSG00000250424.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   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 plasmidAQP2 promoter sequence
   Search Chromatin IP Primers for AQP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181 (See protein sequence)
Recommended Name: Aquaporin-2  
Size: 271 amino acids; 28837 Da
Secondary accessions: Q9UD68

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

Explore proteomics data for AQP2 at MOPED

Post-translational modifications: 

  • Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not
    phosphorylation-dependent1
  • Glycosylation2 at Asn123
  • Modification sites at PhosphoSitePlus

  • See AQP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000477.1  
    ENSEMBL proteins: 
     ENSP00000447148   ENSP00000199280   ENSP00000450022  
    Reactome Protein details: P41181

    AQP2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for AQP2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AQP: Ion channels / Aquaporins

    IUPHAR Guide to PHARMACOLOGY protein family classification: AQP2
    Aquaporins

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

    Graphical View of Domain Structure for InterPro Entry P41181

    ProtoNet protein and cluster: P41181

    1 Blocks protein domain: 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


    Find genes that share domains with AQP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005215transporter activity ----
    GO:0005372water transmembrane transporter activity IDA8584435
    GO:0005515protein binding ----
    GO:0015168glycerol transmembrane transporter activity IDA8584435
         
    Find genes that share ontologies with AQP2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for AQP2:
     Decreased Wnt reporter activit 

         8 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Aqp2):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  integument 
     mortality/aging  renal/urinary system  reproductive system 

    Find genes that share phenotypes with AQP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aqp2tm1.1Nlsn for AQP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AQP2

    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
    SwitchGear 3'UTR luciferase reporter plasmidAQP2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AQP2_HUMAN, P41181: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus3
    cytoskeleton2
    endoplasmic reticulum2
    endosome2
    extracellular2
    lysosome2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005764lysosome IEA--
    GO:0005769early endosome IEA--
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    Find genes that share ontologies with AQP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AQP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Passive Transport by Aquaporins0.00
    Aquaporin-mediated transport0.85
    2Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Vasopressin-regulated water reabsorption
    Vasopressin-regulated water reabsorption
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with AQP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    2 Reactome Pathways for AQP2
        Regulation of water balance by renal Aquaporins
    Passive transport by Aquaporins


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AQP2: 
              Terminal Differentiation Markers in human mouse rat
              Diabetes in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AQP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for AQP2 (P411813 ENSP000001992804) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003097renal water transport IEA--
    GO:0006810transport ----
    GO:0006833water transport TAS--
    GO:0006884cell volume homeostasis IEA--
    GO:0006915apoptotic process IEA--

    Find genes that share ontologies with AQP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    1 IUPHAR Ligand for AQP2 (AQP2)    About this table
    LigandTypeActionAffinityPubmed IDs
    Hg2+
    InhibitorNone--

    Selected Novoseek inferred 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)



    Find genes that share compounds with AQP2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    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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    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.409482  DT.100709571  DT.100729035 

    Selected AceView cDNA sequences (see all 52):

    BM923378 AI284339 AW236125 AI701621 NM_000486 AI792401 BF222027 BM674980 
    BI763177 BM924385 AA910952 AA602384 AW204506 BE501883 CR542024 BI759314 
    AW204305 AL036108 BG430071 AI478213 AI796119 AW195004 AW015506 BI760257 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AQP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACAGGTA
    AQP2 Expression
    About this image


    AQP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Collecting Duct Cells Renal Collecting Duct System
             Mouse ureteric bud cells (CMUB-1)
             Proximal tubule-like cells
     
     Epithelial Cells
             Collecting Duct Cells Renal Collecting Duct System
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Prostate (Endocrine System)
    AQP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AQP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130730

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AQP2: 
              Terminal Differentiation Markers in human mouse rat
              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 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AQP2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aqp21 , 5 aquaporin 21, 5 86.84(n)1
    88.93(a)1
      15 (56.13 cM)5
    118271  NM_009699.31  NP_033829.31 
     995790565 
    chicken
    (Gallus gallus)
    Aves AQP21 aquaporin 2 (collecting duct) 73.51(n)
    79.48(a)
      431304  XM_428855.4  XP_428855.4 
    lizard
    (Anolis carolinensis)
    Reptilia AQP26
    aquaporin 2 (collecting duct)
    75(a)
    1 ↔ 1
    2(96116437-96131450)
    African clawed frog
    (Xenopus laevis)
    Amphibia aqp-A2 aquaporin 71.7(n)    AY151156.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DELTA-TIP1 DELTA-TIP 52.29(n)
    43.13(a)
      820870  NM_112495.3  NP_188245.1 
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with AQP2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AQP2 (see all 378)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315801,2,,4
    CDiabetes insipidus, nephrogenic, autosomal (ANDI)4 pathogenic150178128(+) GGTACA/CGGCTC 2 Q P mis1 ese30--------
    VAR_0152424
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152422 N S mis40--------
    VAR_0625874
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0625872 G S mis40--------
    VAR_0152554
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152552 P L mis40--------
    VAR_0152544
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152542 E K mis40--------
    VAR_0152494
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152492 C W mis40--------
    VAR_0152534
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152532 W C mis40--------
    VAR_0152504
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152502 P A mis40--------
    VAR_0044014
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0044012 G R mis40--------
    VAR_0152444
    Diabetes insipidus, nephrogenic, autosomal (ANDI)4--see VAR_0152442 T M mis40--------

    HapMap Linkage Disequilibrium report for AQP2 (50344524 - 50352664 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AQP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832407CNV Loss17160897
    nsv899073CNV Loss21882294
    nsv899074CNV Loss21882294
    nsv899072CNV Loss21882294
    nsv522972CNV Gain19592680

    Human Gene Mutation Database (HGMD): AQP2
    Locus Specific Mutation Databases (LSDB): AQP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AQP2
    DNA2.0 Custom Variant and Variant Library Synthesis for AQP2

    (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.)
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    OMIM gene information: 107777   
    OMIM disorders: 125800  
    UniProtKB/Swiss-Prot: AQP2_HUMAN, P41181
  • Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]: A disorder caused by the inability of the
    renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water
    drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia.
    Inheritance can be autosomal dominant or recessive. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for AQP2:    
    About MalaCards
    nephrogenic diabetes insipidus, autosomal    congenital hydronephrosis    hydronephrosis    endolymphatic hydrops
    ureteral disease    nephrogenic diabetes insipidus    inappropriate adh syndrome    meniere's disease
    diabetes insipidus    urinary tract obstruction    neurohypophyseal diabetes insipidus    acute pyelonephritis
    hepatorenal syndrome    diabetic ketoacidosis    metabolic acidosis    renal clear cell carcinoma
    hypokalemia

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

    Find genes that share disorders with AQP2           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: AQP2
    Genetic Association Database (GAD): AQP2
    Human Genome Epidemiology (HuGE) Navigator: AQP2 (9 documents)

    Export disorders for AQP2 gene to outside databases

    (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)
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    PubMed articles for AQP2 gene, integrated from 10 sources (see all 381):
    (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. (J. Clin. Invest. 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. (J. Am. Soc. Nephrol. 1997)
    3. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PubMed id 16845277)1, 2, 9 Carroll P.... Meyer B.F. (Genet. Med. 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. (Hum. Mutat. 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. (Hum. Mol. Genet. 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. (Hum. Mol. Genet. 1997)
    7. Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12--&gt;q13. (PubMed id 7512890)1, 3, 9 Deen P.M....van Os C.H. (Cytogenet. Cell Genet. 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. (Hum. Mutat. 2009)
    9. Study of the association of -667 aquaporin-2 (AQP-2) A/G promoter polymorphism with the incidence and clinical course of chronic kidney disease in Korea. (PubMed id 17763164)1, 4, 9 Kang S.W....Kim E. (Ren Fail 2007)
    10. 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. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=AQP2[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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