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Aliases for AQP3 Gene

Aliases for AQP3 Gene

  • Aquaporin 3 (Gill Blood Group) 2 3 5
  • Aquaporin 3 (GIL Blood Group) 2 3
  • Aquaglyceroporin-3 3 4
  • AQP-3 3 4
  • Gill Blood Group 2
  • Aquaporin 3 2
  • Aquaporin-3 3
  • GIL 3

External Ids for AQP3 Gene

Previous GeneCards Identifiers for AQP3 Gene

  • GC09M033753
  • GC09M033610

Summaries for AQP3 Gene

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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for AQP3 Gene

AQP3 (Aquaporin 3 (Gill Blood Group)) is a Protein Coding gene. Diseases associated with AQP3 include Pompholyx and Oligohydramnios. Among its related pathways are Aquaporin-mediated transport and Vasopressin-regulated water reabsorption. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP9.

UniProtKB/Swiss-Prot for AQP3 Gene

  • 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).

Tocris Summary for AQP3 Gene

  • Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.

Gene Wiki entry for AQP3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP3 Gene

Genomics for AQP3 Gene

Regulatory Elements for AQP3 Gene

Enhancers for AQP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F033434 1 Ensembl ENCODE 28.6 +11.5 11549 2.4 BCOR KLF1 ESRRA ZFP64 ZMYM3 KLF17 CEBPB CEBPG NR2F2 ARID1B AQP3 AQP7 NOL6 PIR43065
GH09F033430 0.5 ENCODE 23 +16.4 16360 1.1 PKNOX1 MAFG REST NR3C1 ZNF316 PBX2 RCOR1 FOS NFE2 EMSY AQP3 AQP7 NDUFB6 PIR43065
GH09F033413 0.9 Ensembl ENCODE 22.2 +31.2 31208 4.9 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS AQP3 SMU1 NOL6 NFX1 AQP7 LOC105376020 PIR43065
GH09F033390 0.5 Ensembl ENCODE 18.5 +54.7 54682 5.8 PKNOX1 MLX ARID4B FEZF1 DMAP1 YY1 GTF3C2 ZNF121 SP5 PPARG ASS1P12 AQP3 ENSG00000228352 TCEA1P4 DFFBP1 AQP7 TOPORS SMU1 NFX1 DDX58
GH09F033438 1.2 Ensembl ENCODE 16.7 +8.1 8132 1.4 ZMYM3 RCOR1 ZNF24 MNT MAFK NR2F2 AQP3 NOL6 PIR43065
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AQP3 on UCSC Golden Path with GeneCards custom track

Promoters for AQP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001908398 333 1401 ATF1 PKNOX1 ARID4B SIN3A ZNF48 YY1 ZNF766 GLIS2 FOS ZNF263

Genomic Location for AQP3 Gene

Chromosome:
9
Start:
33,441,154 bp from pter
End:
33,447,633 bp from pter
Size:
6,480 bases
Orientation:
Minus strand

Genomic View for AQP3 Gene

Genes around AQP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP3 Gene

Proteins for AQP3 Gene

  • Protein details for AQP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92482-AQP3_HUMAN
    Recommended name:
    Aquaporin-3
    Protein Accession:
    Q92482
    Secondary Accessions:
    • A8K843
    • B2RE16
    • D3DRL3
    • O00108
    • Q6FGT2
    • Q6FGW6

    Protein attributes for AQP3 Gene

    Size:
    292 amino acids
    Molecular mass:
    31544 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AQP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP3 Gene

Post-translational modifications for AQP3 Gene

Other Protein References for AQP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP3 Gene

Domains & Families for AQP3 Gene

Gene Families for AQP3 Gene

Protein Domains for AQP3 Gene

Suggested Antigen Peptide Sequences for AQP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q92482

UniProtKB/Swiss-Prot:

AQP3_HUMAN :
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
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).
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
genes like me logo Genes that share domains with AQP3: view

Function for AQP3 Gene

Molecular function for AQP3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Up-regulated by magnesium.

Gene Ontology (GO) - Molecular Function for AQP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 7543093
GO:0015204 urea transmembrane transporter activity IBA --
GO:0015250 water channel activity TAS 17943189
GO:0015254 glycerol channel activity IDA 17943189
genes like me logo Genes that share ontologies with AQP3: view
genes like me logo Genes that share phenotypes with AQP3: view

Animal Models for AQP3 Gene

MGI Knock Outs for AQP3:

Animal Model Products

  • Taconic Biosciences Mouse Models for AQP3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AQP3 Gene

Localization for AQP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP3 Gene

Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AQP3 Gene COMPARTMENTS Subcellular localization image for AQP3 gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2

Gene Ontology (GO) - Cellular Components for AQP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA 18718702
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005911 cell-cell junction IDA 18718702
genes like me logo Genes that share ontologies with AQP3: view

Pathways & Interactions for AQP3 Gene

genes like me logo Genes that share pathways with AQP3: view

Gene Ontology (GO) - Biological Process for AQP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002684 positive regulation of immune system process IDA 17943189
GO:0003091 renal water homeostasis TAS --
GO:0006810 transport NAS 7543093
GO:0006833 water transport TAS 17943189
GO:0007588 excretion TAS 7543093
genes like me logo Genes that share ontologies with AQP3: view

No data available for SIGNOR curated interactions for AQP3 Gene

Drugs & Compounds for AQP3 Gene

(10) Drugs for AQP3 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Hg<sup>2+</sup> Pharma Inhibitor 0

(11) Additional Compounds for AQP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AQP3: view

Transcripts for AQP3 Gene

Unigene Clusters for AQP3 Gene

Aquaporin 3 (Gill blood group):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AQP3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: -

Relevant External Links for AQP3 Gene

GeneLoc Exon Structure for
AQP3
ECgene alternative splicing isoforms for
AQP3

Expression for AQP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AQP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP3 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.0), Skin - Not Sun Exposed (Suprapubic) (x6.6), Minor Salivary Gland (x5.7), Skin - Sun Exposed (Lower leg) (x5.0), and Vagina (x4.9).

Protein differential expression in normal tissues from HIPED for AQP3 Gene

This gene is overexpressed in Prostate (21.7), Spleen (21.4), Urinary Bladder (12.1), and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AQP3 Gene



Protein tissue co-expression partners for AQP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP3 Gene:

AQP3

SOURCE GeneReport for Unigene cluster for AQP3 Gene:

Hs.234642

mRNA Expression by UniProt/SwissProt for AQP3 Gene:

Q92482-AQP3_HUMAN
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.
genes like me logo Genes that share expression patterns with AQP3: view

Primer Products

Orthologs for AQP3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AQP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP3 34 35
  • 99.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQP3 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP3 34 35
  • 90.75 (n)
cow
(Bos Taurus)
Mammalia AQP3 34 35
  • 90.64 (n)
mouse
(Mus musculus)
Mammalia Aqp3 34 16 35
  • 88.36 (n)
rat
(Rattus norvegicus)
Mammalia Aqp3 34
  • 88.01 (n)
oppossum
(Monodelphis domestica)
Mammalia AQP3 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP3 34 35
  • 74.32 (n)
lizard
(Anolis carolinensis)
Reptilia AQP3 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp3 34
  • 73.86 (n)
Str.15346 34
African clawed frog
(Xenopus laevis)
Amphibia aqp3 34
zebrafish
(Danio rerio)
Actinopterygii aqp3b 34 35
  • 65.86 (n)
aqp3a 35
  • 65 (a)
OneToMany
Dr.922 34
worm
(Caenorhabditis elegans)
Secernentea C01G6.1a 36
  • 44 (a)
C01G6.1b 36
  • 44 (a)
aqp-2 35
  • 42 (a)
ManyToMany
Y69E1A.7 36
  • 40 (a)
M02F4.8 36
  • 39 (a)
aqp-7 35
  • 37 (a)
ManyToMany
aqp-8 35
  • 34 (a)
ManyToMany
aqp-1 35
  • 30 (a)
ManyToMany
aqp-3 35
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YFL054C 34
  • 48.33 (n)
-- 35
  • 16 (a)
OneToMany
AQY3 37
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC977.17 34
  • 47.86 (n)
Species where no ortholog for AQP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AQP3 Gene

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

Paralogs for AQP3 Gene

Paralogs for AQP3 Gene

(5) SIMAP similar genes for AQP3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AQP3: view

Variants for AQP3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AQP3 Gene

AQP3_HUMAN-Q92482
AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3.

Sequence variations from dbSNP and Humsavar for AQP3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10813981 -- 33,444,760(+) CCTCA(A/G)CAACC intron-variant
rs10971513 -- 33,441,529(+) ATACA(A/C)ATACA nc-transcript-variant, utr-variant-3-prime
rs111581239 -- 33,444,414(+) GGCCA(A/G)CATAG intron-variant
rs111748641 -- 33,443,655(+) CCTTT(C/G)CCAAG intron-variant
rs113071159 -- 33,444,366(+) AGGCC(A/G)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AQP3 Gene

Variant ID Type Subtype PubMed ID
dgv7517n100 CNV gain 25217958
esv3576648 CNV gain 25503493
nsv1024207 CNV gain 25217958
nsv466380 CNV loss 19166990
nsv516500 CNV loss 19592680
nsv614147 CNV loss 21841781
nsv614148 CNV loss 21841781
nsv614149 CNV loss 21841781
nsv951698 CNV deletion 24416366

Variation tolerance for AQP3 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AQP3 Gene

Human Gene Mutation Database (HGMD)
AQP3
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP3

Disorders for AQP3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for AQP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pompholyx
  • cheiropompholyx
oligohydramnios
  • antepartum oligohydramnios
polyhydramnios
meniere's disease
  • meniere disease
bullous keratopathy
- elite association - COSMIC cancer census association via MalaCards
Search AQP3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AQP3

Genetic Association Database (GAD)
AQP3
Human Genome Epidemiology (HuGE) Navigator
AQP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP3
genes like me logo Genes that share disorders with AQP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AQP3 Gene

Publications for AQP3 Gene

  1. Structure and chromosomal localization of a human water channel (AQP3) gene. (PMID: 7558005) Ishibashi K. … Marumo F. (Genomics 1995) 2 3 4 22 64
  2. AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. (PMID: 12239222) Roudier N. … Bailly P. (J. Biol. Chem. 2002) 3 4 22 64
  3. Relationship between gene expressions of aquaporin 3 and 4 and various degrees of spleen-stomach dampness-heat syndrome in chronic superficial gastritis. (PMID: 20141731) Mei W.X. … Hu B. (Zhong Xi Yi Jie He Xue Bao 2010) 3 22 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Expression profile of multiple aquaporins in human gastric carcinoma and its clinical significance. (PMID: 20106632) Shen L. … Wu W. (Biomed. Pharmacother. 2010) 3 22 64

Products for AQP3 Gene

Sources for AQP3 Gene

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