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

AQP3 Gene

protein-coding   GIFtS: 66
GCID: GC09M033431

Aquaporin 3 (Gill Blood Group)

(Previous names: aquaporin 3, aquaporin 3 (GIL blood group))
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 urinary tract obstruction, and collecting duct carcinoma, and among its related super-pathways are Aquaporin-mediated transport and SLC-mediated transmembrane transport. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AQP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482 (See protein sequence)
Recommended Name: Aquaporin-3  
Size: 292 amino acids; 31544 Da
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney
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 

AQP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

AQP3 Protein Expression

REFSEQ proteins: NP_004916.1  
ENSEMBL proteins: 
 ENSP00000297991  
Reactome Protein details: Q92482
Human Recombinant Protein Products for AQP3: 
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Cloud-Clone Corp. Proteins for AQP3 

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to membrane IC17943189

AQP3 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for AQP3


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
AQP: Ion channels / Aquaporins
bloodgroup: Blood group antigens

IUPHAR Guide to PHARMACOLOGY protein family classification: AQP3 
Aquaporins

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

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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    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 
 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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for AQP3 
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Inhib. RNA
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for AQP3 About   (see all 6)                                                                                              See pathways by source

SuperPathContained pathways About
1Regulation of Water Balance by Renal Aquaporins
Regulation of Water Balance by Renal Aquaporins0.84
Aquaporin-mediated transport0.84
2SLC-mediated transmembrane transport
Transmembrane transport of small molecules0.50
3Nanog in Mammalian ESC Pluripotency
eNOS Signaling0.48
4Stabilization and expansion of the E-cadherin adherens junction
Stabilization and expansion of the E-cadherin adherens junction
5Passive Transport by Aquaporins
Passive Transport by Aquaporins

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

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

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

4        Reactome Pathways for AQP3
    Transmembrane transport of small molecules
Aquaporin-mediated transport
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

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AQP3

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/8 Interacting proteins for AQP3 (Q924823 ENSP000002979914) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
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): 5/13 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AQP3 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
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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--

10/19 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)

Search CenterWatch for drugs/clinical trials and news about AQP3

(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,
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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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 

24/318 AceView cDNA sequences (see all 318):

BP340426 AI283954 NM_004925 CB242374 AW273155 BU168336 CB529975 AW085747 
BP335063 BQ878865 BP338021 BM907330 BQ224811 BF437236 AW028306 AA715246 
CR604170 CR607893 CR624600 BC013566 BU540697 BX091905 BQ016856 AW170384 

GeneLoc Exon Structure

5/7 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™, 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

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 
 5/10 selected tissues (see all 10) fully expand
 
 Kidney (Urinary System)    fully expand to see all 3 entries
         Collecting Duct Cells Renal Collecting Duct System
         Parietal epithelial cells (PEC)
 
 Oral Cavity (Gastrointestinal Tract)    fully expand to see all 3 entries
         Tongue   
 
 Thymus (Hematopoietic System)    fully expand to see all 2 entries
         Double Positive Thymocytes Thymus
         Thymus   
 
 Inner Cell Mass (Early Embryonic Tissues)
         Blimp1- mVenus and stella-ECFP genetically modified stem cells
 
 Uterus (Reproductive System)
         CERVIX   

See AQP3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP3

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

    SABiosciences Expression via Pathway-Focused PCR Array including AQP3: 
          Osmotic Stress in human mouse rat

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP3

(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 animals and fungi.

Orthologs for AQP3 gene from 7/15 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_424500.3  XP_424500.3 
lizard
(Anolis carolinensis)
Reptilia AQP36
Uncharacterized protein
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
hypothetical protein1
48.12(n)1
37.97(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)
About This Section
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) 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

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


10/260 SNPs in AQP3 are shown (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
SABiosciences Cancer Mutation 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.)
About This Section
OMIM gene information: 600170   
OMIM disorders: 607457  
20/34 diseases for AQP3 (see all 34):    About MalaCards
urinary tract obstruction    collecting duct carcinoma    bullous keratopathy    oligohydramnios
constipation    polyhydramnios    eczema    keratopathy
nephrogenic diabetes insipidus    ureteral obstruction    diabetes insipidus    cystic fibrosis
vitiligo    polycystic kidney disease    kidney disease    lung adenocarcinoma
peritonitis    sjogren's syndrome    oral squamous cell carcinoma    nephrotic 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)
About This Section

PubMed articles for AQP3 gene, integrated from 9 sources (see all 187):
(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. (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. (2002)
  3. Molecular analysis of aquaporin genes 1 to 4 in patie nts with MeniA"re's disease. (PubMed id 21063116)1, 4 Candreia C....GA1rtler N. (2010)
  4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (2004)
  8. Expression of aquaporin 3 (AQP3) in normal and neoplastic lung tissues. (PubMed id 17056099)1, 9 Liu Y.L....Katoh R. (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. (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. (2006)

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

  Query String
PubMed
OMIM
NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 360 HGNC: 636 AceView: AQP3 Ensembl:ENSG00000165272 euGenes: HUgn360
ECgene: AQP3 Kegg: 360 H-InvDB: AQP3

(According to HUGE)
About This Section
  --

(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 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.)
About This Section
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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About This Section

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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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