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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
  • 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 Vasopressin-regulated water reabsorption and Aquaporin-mediated transport. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is LOC102724922.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around AQP3 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for AQP3 Gene at MOPED

Post-translational modifications for AQP3 Gene

Other Protein References for AQP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

InterPro:
Blocks:
ProtoNet:

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 IEA,NAS 7543093
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

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:0016020 membrane IEA --
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:0003091 renal water homeostasis TAS --
GO:0006810 transport IEA,NAS 7543093
GO:0006833 water transport IEA,TAS 17943189
GO:0015793 glycerol transport IEA --
GO:0033280 response to vitamin D TAS 17943189
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

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

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

(13) Additional Compounds for AQP3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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 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



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

Protein tissue co-expression partners for AQP3 Gene

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
cow
(Bos Taurus)
Mammalia AQP3 35
  • 90.64 (n)
  • 94.86 (a)
AQP3 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP3 35
  • 90.75 (n)
  • 95.21 (a)
AQP3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp3 35
  • 88.36 (n)
  • 95.55 (a)
Aqp3 16
Aqp3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AQP3 35
  • 99.54 (n)
  • 99.32 (a)
AQP3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp3 35
  • 88.01 (n)
  • 94.52 (a)
oppossum
(Monodelphis domestica)
Mammalia AQP3 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQP3 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP3 35
  • 74.32 (n)
  • 81.16 (a)
AQP3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQP3 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp3 35
  • 73.86 (n)
  • 78.08 (a)
Str.15346 35
African clawed frog
(Xenopus laevis)
Amphibia aqp3 35
zebrafish
(Danio rerio)
Actinopterygii aqp3b 35
  • 65.86 (n)
  • 66.21 (a)
Dr.922 35
aqp3a 36
  • 65 (a)
OneToMany
aqp3b 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C01G6.1a 37
  • 44 (a)
C01G6.1b 37
  • 44 (a)
M02F4.8 37
  • 39 (a)
Y69E1A.7 37
  • 40 (a)
aqp-1 36
  • 30 (a)
ManyToMany
aqp-2 36
  • 42 (a)
ManyToMany
aqp-3 36
  • 27 (a)
ManyToMany
aqp-7 36
  • 37 (a)
ManyToMany
aqp-8 36
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YFL054C 35
  • 48.33 (n)
  • 38.96 (a)
-- 36
  • 16 (a)
OneToMany
AQY3 38
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC977.17 35
  • 47.86 (n)
  • 40.47 (a)
Species with no ortholog for AQP3:
  • 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
rs34942735 - 33,443,874(-) GCTCC(A/G)TGGCC reference, missense
rs7847830 -- 33,444,078(+) CCACC(A/C)CACTG intron-variant
rs113071159 -- 33,444,366(+) AGGCC(A/G)AGGTG intron-variant
rs113164213 -- 33,441,717(+) CACAC(A/T)CACAC utr-variant-3-prime
rs113183705 -- 33,444,599(+) ATCTC(-/A)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893018 CNV Gain 21882294
nsv466380 CNV Loss 19166990
nsv516500 CNV Loss 19592680
nsv893019 CNV Gain 21882294
dgv8163n71 CNV Gain 21882294
dgv8164n71 CNV Gain 21882294
dgv8165n71 CNV Loss 21882294

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

Disorders for AQP3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pompholyx
  • cheiropompholyx
oligohydramnios
  • antepartum oligohydramnios
polyhydramnios
bullous keratopathy
hydrarthrosis
- 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 23 67
  2. Expression profile of multiple aquaporins in human gastric carcinoma and its clinical significance. (PMID: 20106632) Shen L. … Wu W. (Biomed. Pharmacother. 2010) 3 23
  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 23
  4. The expression of differentiation markers in aquaporin-3 deficient epidermis. (PMID: 19184071) Hara-Chikuma M. … Miyachi Y. (Arch. Dermatol. Res. 2009) 3 23
  5. Recruitment of human aquaporin 3 to internal membranes in the Plasmodium falciparum infected erythrocyte. (PMID: 19393693) Bietz S. … Lingelbach K. (Mol. Biochem. Parasitol. 2009) 3 23

Products for AQP3 Gene

Sources for AQP3 Gene

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