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AQP3 Gene

protein-coding   GIFtS: 67
GCID: GC09M033431

Aquaporin 3 (Gill Blood Group)

(Previous names: aquaporin 3, aquaporin 3 (GIL blood group))
Microbiology & Infectious Diseases Congress
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(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 3 (Gill Blood Group)1 2     GIL2
Aquaporin 3 (GIL Blood Group)1 2     aquaglyceroporin-32
AQP-32 3     aquaporin-32
Aquaporin 31     Aquaglyceroporin-33
Gill Blood Group1     

External Ids:    HGNC: 6361   Entrez Gene: 3602   Ensembl: ENSG000001652727   OMIM: 6001705   UniProtKB: Q924823   

Export aliases for AQP3 gene to outside databases

Previous GC identifers: GC09M033753 GC09M033610


(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 AQP3 Gene:
This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane
proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal
lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3
has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller
degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute
permeation mechanisms. (provided by RefSeq, Aug 2011)

GeneCards Summary for AQP3 Gene:
AQP3 (aquaporin 3 (Gill blood group)) is a protein-coding gene. Diseases associated with AQP3 include collecting duct carcinoma, and urinary tract obstruction. GO annotations related to this gene include glycerol channel activity and transporter activity. An important paralog of this gene is AQP9.

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482
Function: Water channel required to promote glycerol permeability and water transport across cell membranes. Acts
as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal
glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary
collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic
gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in
collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol
metabolism (By similarity)

Gene Wiki entry for AQP3 (Aquaporin 3) 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:
NC_000009.12  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the AQP3 gene promoter:
         USF1   NRSF form 1   CUTL1   HNF-4alpha2   NRSF form 2   HNF-4alpha1   FAC1   USF-1   Hlf   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQP3 promoter sequence
   Search Chromatin IP Primers for AQP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AQP3


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

AQP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M033431:  view genomic region     (about GC identifiers)

Start:
33,441,152 bp from pter      End:
33,447,609 bp from pter
Size:
6,458 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482 (See protein sequence)
Recommended Name: Aquaporin-3  
Size: 292 amino acids; 31544 Da
Secondary accessions: A8K843 B2RE16 D3DRL3 O00108 Q6FGT2 Q6FGW6
Alternative splicing: 2 isoforms:  Q92482-1   Q92482-2   (Due to a polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping and premature termination of translation. This is the molecular basis of the GIL blood group)

Explore the universe of human proteins at neXtProt for AQP3: NX_Q92482

Explore proteomics data for AQP3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5
  • Glycosylation2 at Asn141

  • See AQP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004916.1  
    ENSEMBL proteins: 
     ENSP00000297991  
    Reactome Protein details: Q92482

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    (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
    bloodgroup: Blood group antigens

    IUPHAR Guide to PHARMACOLOGY protein family classification: AQP3
    Aquaporins

    4 InterPro protein domains:
     IPR023271 Aquaporin-like
     IPR000425 MIP
     IPR023275 Aquaporin_3
     IPR022357 MIP_CS

    Graphical View of Domain Structure for InterPro Entry Q92482

    ProtoNet protein and cluster: Q92482

    1 Blocks protein domain: IPB000425 MIP family

    UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482
    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


    AQP3 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AQP3_HUMAN, Q92482
    Function: Water channel required to promote glycerol permeability and water transport across cell membranes. Acts
    as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal
    glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary
    collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic
    gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in
    collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol
    metabolism (By similarity)
    Induction: Up-regulated by magnesium

         Genatlas biochemistry entry for AQP3:
    aquaporin 3,water channel,forming integral protein (basolateral membrane of collecting duct cell),providing the
    exit pathway to interstitium,also expressed in colon,localized in villus epithelial cells,involved in water
    absorption across human colonic surface cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS7543093
    GO:0015250water channel activity TAS17943189
    GO:0015254glycerol channel activity IDA17943189
         
    AQP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AQP3:
     Decreased Wnt reporter activit 

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aqp3):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  immune system  mortality/aging  renal/urinary system 
     respiratory system  taste/olfaction  vision/eye 

    AQP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aqp3tm1Ask for AQP3

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    4 qRT-PCR Assays for microRNAs that regulate AQP3:
    hsa-miR-3163 hsa-miR-194 hsa-miR-3159 hsa-miR-874
    SwitchGear 3'UTR luciferase reporter plasmidAQP3 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
    AQP3_HUMAN, Q92482: Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18718702
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction IDA18718702
    GO:0016020membrane ----
    GO:0016021integral component of membrane IC17943189

    AQP3 for ontologies           About GeneDecksing


    (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 AQP3 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
    5Stabilization and expansion of the E-cadherin adherens junction
    Stabilization and expansion of the E-cadherin adherens junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AQP3
        eNOS Signaling

    1 BioSystems Pathway for AQP3
        Stabilization and expansion of the E-cadherin adherens junction

    2 Reactome Pathways for AQP3
        Regulation of water balance by renal Aquaporins
    Passive transport by Aquaporins


    1 Kegg Pathway  (Kegg details for AQP3):
        Vasopressin-regulated water reabsorption


    AQP3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including AQP3: 
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AQP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for AQP3 (Q924823 ENSP000002979914) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLD2O149393, ENSP000002630884I2D: score=3 STRING: ENSP00000263088
    CAV1Q031353, ENSP000003391914I2D: score=1 STRING: ENSP00000339191
    ATP5BP065763I2D: score=4 
    AQP2ENSP000001992804STRING: ENSP00000199280
    STX4ENSP000003177144STRING: ENSP00000317714
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002684positive regulation of immune system process IDA17943189
    GO:0006810transport NAS7543093
    GO:0006833water transport TAS17943189
    GO:0007588excretion TAS7543093
    GO:0015793glycerol transport ----

    AQP3 for ontologies           About GeneDecksing



    (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 AQP3

    1 HMDB Compound for AQP3    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 IUPHAR Ligand for AQP3 (AQP3)    About this table
    LigandTypeActionAffinityPubmed IDs
    Hg2+
    InhibitorNone--

    Selected Novoseek inferred chemical compound relationships for AQP3 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 76.2 68 8810261 (4), 16872579 (3), 15456785 (3), 17967887 (3) (see all 32)
    pcmbs 56.6 1 8810261 (1)
    urea 56.5 15 8810261 (3), 7517548 (2), 20149227 (1), 11597198 (1) (see all 9)
    hgcl2 55.9 1 9369468 (1)
    mercury chloride 48.4 1 9124401 (1)
    retinoic acid 32.4 45 18636178 (7), 17943189 (6), 18064629 (5), 19184071 (1) (see all 7)
    mannitol 19.4 3 15898954 (1), 11750058 (1)
    2-mercaptoethanol 18.6 1 9124401 (1)
    oligonucleotide 11.1 4 12769265 (1), 10510269 (1)
    forskolin 9.09 2 16638588 (1)



    AQP3 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AQP3 gene: 
    NM_004925.4  

    Unigene Cluster for AQP3:

    Aquaporin 3 (Gill blood group)
    Hs.234642  [show with all ESTs]
    Unigene Representative Sequence: NM_004925
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297991(uc003zsx.3 uc010mju.3) ENST00000493581(uc003zsv.2)
    ENST00000494313 ENST00000463983 ENST00000473153
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AJ493597.1 AK292208.1 AK315760.1 BC012988.2 BC013566.1 BT007199.1 CR541991.1 CR542025.1 

    20 DOTS entries:

    DT.450022  DT.100788373  DT.100788368  DT.100727049  DT.100788375  DT.121162831  DT.121162856  DT.121162819 
    DT.121162838  DT.97864190  DT.100645939  DT.100762945  DT.121162844  DT.95149103  DT.95261961  DT.95261964 
    DT.95261965  DT.95261971  DT.100682373  DT.121162826 

    Selected AceView cDNA sequences (see all 318):

    AW591193 BM907330 CR604170 AI356959 BU168336 BQ016856 BM549986 CR614710 
    AA715246 BI333194 AL556089 AI635233 CR624600 CR599108 CR598676 CA310772 
    CB242374 AI283954 AW273155 BU540697 CR599072 BQ878865 CD370202 BF437236 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AQP3 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
    SP1:                    -           -     -                                       
    SP2:                    -           -     -                 -                     
    SP3:                                -     -                                       
    SP4:                    -                 -                                       
    SP5:                                                                              


    ECgene alternative splicing isoforms for AQP3

    (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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    AQP3 expression in normal human tissues (normalized intensities)      AQP3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCTTTTG
    AQP3 Expression
    About this image


    AQP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Collecting Duct Cells Renal Collecting Duct System
             Adult human kidney epithelial cells
             Renal proximal tubularlike cells
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Peripheral Blood
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Epithelial Cells
             Collecting Duct Cells Renal Collecting Duct System
    AQP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AQP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.234642

    UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482
    Tissue specificity: Widely expressed in epithelial cells of kidney (collecting ducts) and airways, in
    keratinocytes, immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the
    protein level

        Pathway & Disease-focused RT2 Profiler PCR Array including AQP3: 
              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 animals and fungi.

    Orthologs for AQP3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aqp31 , 5 aquaporin 31, 5 88.36(n)1
    95.55(a)1
      4 (20.94 cM)5
    118281  NM_016689.21  NP_057898.21 
     410927225 
    chicken
    (Gallus gallus)
    Aves AQP31 aquaporin 3 (Gill blood group) 74.32(n)
    81.16(a)
      426894  XM_424500.4  XP_424500.3 
    lizard
    (Anolis carolinensis)
    Reptilia AQP36
    aquaporin 3 (Gill blood group)
    79(a)
    1 ↔ 1
    GL343372.1(555340-575514)
    African clawed frog
    (Xenopus laevis)
    Amphibia aqp32 aquaporin-3 75.6(n)    AJ131847.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.9222 Danio rerio mRNA similar to aquaporin 3 (cDNA clone more 76.37(n)    BC044188.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C01G6.1b3 Major intrinsic protein 44(a)
    (best of 4)
      II(9259518-9261883)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YFL054C)4
    YFL054C1
    Putative channel-like protein; similar to Fps1p; mediates more4
    YFL054C1
    48.33(n)1
    38.96(a)1
      6(22787-20847)4
    8504901, 4  NP_116601.11, 4 


    ENSEMBL Gene Tree for AQP3 (if available)
    TreeFam Gene Tree for AQP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AQP3 gene
    AQP92  AQP102  AQP72  
    5 SIMAP similar genes for AQP3 using alignment to 2 protein entries:     AQP3_HUMAN (see all proteins):
    AQP9    AQP7P3    AQP7    bA251O17.3    AQP10

    AQP3 for paralogs           About GeneDecksing



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    AQP3_HUMAN, Q92482: AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative
    individuals that lack functional AQP3


    Selected SNPs for AQP3 (see all 260)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs29928171,2
    C,F,A,H--33405818(+) GTTCAA/TTGAGA 1 -- us2k135Minor allele frequency- T:0.39NS EA NA WA CSA 3004
    rs78556491,2
    C,F,A--33405884(+) GTTAGT/CCCTGT 1 -- us2k13Minor allele frequency- C:0.01NA 142
    rs1844146721,2
    --33408663(+) AGCCTA/GAATAG 1 -- ds50010--------
    rs1440989121,2
    --33408694(+) TACAGA/GTTCCC 1 -- ds50010--------
    rs1872246871,2
    --33408712(+) TGGGTA/CTCCTC 1 -- ds50010--------
    rs1916339841,2
    --33408826(+) TGTGGC/GTACAG 1 -- ds50010--------
    rs344962521,2
    C,F--33408898(-) CCCAAA/GCTTTC 1 -- ds50014Minor allele frequency- G:0.09NS NA WA 214
    rs1839703581,2
    --33409088(+) CTGGAC/GGTTTT 1 -- ut310--------
    rs1894275851,2
    C--33409235(+) ACATTA/CAAAAC 1 -- ut310--------
    rs1822675991,2
    --33409295(+) CCTTCA/GTGCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for AQP3 (33441152 - 33447609 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for AQP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv8165n71CNV Loss21882294
    nsv466380CNV Loss19166990
    nsv516500CNV Loss19592680
    dgv8164n71CNV Gain21882294
    nsv893018CNV Gain21882294
    dgv8163n71CNV Gain21882294
    nsv893019CNV Gain21882294

    Human Gene Mutation Database (HGMD): AQP3
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AQP3
    DNA2.0 Custom Variant and Variant Library Synthesis for AQP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600170   
    OMIM disorders: 607457  
    Selected diseases for AQP3 (see all 38):    About MalaCards
    collecting duct carcinoma    urinary tract obstruction    oligohydramnios    bullous keratopathy
    polyhydramnios    keratopathy    constipation    ureteral obstruction
    nephrogenic diabetes insipidus    adenoid cystic carcinoma    diabetes insipidus    mucinous adenocarcinoma
    nephrotic syndrome    adenoiditis    cystic fibrosis    vitiligo
    polycystic kidney disease    peritonitis    kidney disease    sjogren's syndrome

    3 diseases from the University of Copenhagen DISEASES database for AQP3:
    Nephrogenic diabetes insipidus     Urinary tract obstruction     Ureteral disease

    AQP3 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for AQP3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma lung 37.1 1 17056099 (1)
    nephrotic syndrome 17.3 1 20142913 (1)
    eczema 12.4 3 16918518 (2), 16872579 (1)
    adenocarcinoma 0.686 7 17056099 (4), 18604784 (1), 19340551 (1)
    lung diseases 0 1 9374739 (1)
    tumors 0 11 17056099 (2), 19619514 (2), 11912242 (1), 18214481 (1) (see all 7)
    carcinoma 0 2 17056099 (1), 20106632 (1)
    cystic fibrosis 0 2 10206998 (1), 10869574 (1)
    edema 0 1 16872579 (1)

    Genetic Association Database (GAD): AQP3
    Human Genome Epidemiology (HuGE) Navigator: AQP3 (4 documents)

    Export disorders for AQP3 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 AQP3 gene, integrated from 10 sources (see all 188):
    (articles sorted by number of sources associating them with AQP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and chromosomal localization of a human water channel (AQP3) gene. (PubMed id 7558005)1, 2, 3, 9 Ishibashi K.... Marumo F. (Genomics 1995)
    2. AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. (PubMed id 12239222)1, 2, 9 Roudier N.... Bailly P. (J. Biol. Chem. 2002)
    3. Molecular analysis of aquaporin genes 1 to 4 in patients with MeniA"re's disease. (PubMed id 21063116)1, 4 Candreia C....GA1rtler N. (Cell. Physiol. Biochem. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Expression of aquaporin 3 (AQP3) in normal and neoplastic lung tissues. (PubMed id 17056099)1, 9 Liu Y.L....Katoh R. (Hum. Pathol. 2007)
    9. [Expression and significance of aquaporin 3 and aquaporin 9 in colonic mucosa of patients with functional constipation]. (PubMed id 18197497)1, 9 Yuan W.T....Liu J.B. (Zhonghua Wei Chang Wai Ke Za Zhi 2008)
    10. Aquaporin 3 expression in human fetal membranes and its up-regulation by cyclic adenosine monophosphate in amnion epithelial cell culture. (PubMed id 16638588)1, 9 Wang S....Ross M.G. (J. Soc. Gynecol. Investig. 2006)

    (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: 360 HGNC: 636 AceView: AQP3 Ensembl:ENSG00000165272 euGenes: HUgn360
    ECgene: AQP3 Kegg: 360 H-InvDB: AQP3

    (According to HUGE)
    About This Section

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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 AQP3 Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=gil
    SeattleSNPshttp://pga.gs.washington.edu/data/aqp3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AQP3 gene:
    Search GeneIP for patents involving AQP3

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



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