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Aliases for AQP5 Gene

Aliases for AQP5 Gene

  • Aquaporin 5 2 3
  • AQP-5 3 4
  • PPKB 3 6
  • Aquaporin-5 3

External Ids for AQP5 Gene

Previous GeneCards Identifiers for AQP5 Gene

  • GC12P050649
  • GC12P050411
  • GC12P050072
  • GC12P048641
  • GC12P047386

Summaries for AQP5 Gene

Entrez Gene Summary for AQP5 Gene

  • Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for AQP5 Gene

AQP5 (Aquaporin 5) is a Protein Coding gene. Diseases associated with AQP5 include palmoplantar keratoderma, bothnian type and unna-thost palmoplantar keratoderma. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Stabilization and expansion of the E-cadherin adherens junction. GO annotations related to this gene include water channel activity. An important paralog of this gene is AQP1.

UniProtKB/Swiss-Prot for AQP5 Gene

  • Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions

Tocris Summary for AQP5 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 AQP5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP5 Gene

Genomics for AQP5 Gene

Regulatory Elements for AQP5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AQP5 Gene

Start:
49,961,496 bp from pter
End:
49,965,682 bp from pter
Size:
4,187 bases
Orientation:
Plus strand

Genomic View for AQP5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AQP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP5 Gene

Proteins for AQP5 Gene

  • Protein details for AQP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55064-AQP5_HUMAN
    Recommended name:
    Aquaporin-5
    Protein Accession:
    P55064
    Secondary Accessions:
    • Q6FGW8

    Protein attributes for AQP5 Gene

    Size:
    265 amino acids
    Molecular mass:
    28292 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AQP5 Gene

neXtProt entry for AQP5 Gene

Proteomics data for AQP5 Gene at MOPED

Post-translational modifications for AQP5 Gene

  • Glycosylation at Asn124 and Asn125
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP5 Gene

Domains for AQP5 Gene

Gene Families for AQP5 Gene

HGNC:
  • AQP :Ion channels / Aquaporins
IUPHAR :

Protein Domains for AQP5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55064

UniProtKB/Swiss-Prot:

AQP5_HUMAN :
  • P55064
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 AQP5: view

Function for AQP5 Gene

Molecular function for AQP5 Gene

GENATLAS Biochemistry: aquaporin 5,water channel forming integral protein,expressed in salivary and lacrymal glands,cornea epithelium,lung,in apical but not in basal turn of the cochlea and putatively involved in low frequency hearing (MIP family)
UniProtKB/Swiss-Prot Function: Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions

Gene Ontology (GO) - Molecular Function for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0005515 protein binding IPI 16189514
GO:0015250 water channel activity IDA 12801959
GO:0015254 glycerol channel activity IBA --
genes like me logo Genes that share ontologies with AQP5: view
genes like me logo Genes that share phenotypes with AQP5: view

Animal Models for AQP5 Gene

MGI Knock Outs for AQP5:

Animal Model Products

CRISPR Products

miRNA for AQP5 Gene

miRTarBase miRNAs that target AQP5

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AQP5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AQP5 Gene

Localization for AQP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AQP5 Gene COMPARTMENTS Subcellular localization image for AQP5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8621489
GO:0005902 microvillus IEA --
GO:0009925 basal plasma membrane IEA --
genes like me logo Genes that share ontologies with AQP5: view

Pathways for AQP5 Gene

genes like me logo Genes that share pathways with AQP5: view

Pathways by source for AQP5 Gene

1 Qiagen pathway for AQP5 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006833 water transport TAS --
GO:0007588 excretion TAS 8621489
GO:0009992 cellular water homeostasis IBA --
GO:0015670 carbon dioxide transport IDA 19273840
genes like me logo Genes that share ontologies with AQP5: view

Compounds for AQP5 Gene

(1) IUPHAR Ligand for AQP5 Gene

Ligand Type Action Affinity Pubmed IDs
Hg2+ Inhibitor None

(4) Novoseek inferred chemical compound relationships for AQP5 Gene

Compound -log(P) Hits PubMed IDs
pilocarpine 39.6 2
glycerol 13.3 1
calcium 0 2
estrogen 0 1
genes like me logo Genes that share compounds with AQP5: view

Transcripts for AQP5 Gene

mRNA/cDNA for AQP5 Gene

Unigene Clusters for AQP5 Gene

Aquaporin 5:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AQP5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AQP5 Gene

No ASD Table

Relevant External Links for AQP5 Gene

GeneLoc Exon Structure for
AQP5
ECgene alternative splicing isoforms for
AQP5

Expression for AQP5 Gene

mRNA expression in normal human tissues for AQP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP5 Gene

This gene is overexpressed in Testis (17.3), Minor Salivary Gland (10.9), Skin - Sun Exposed (Lower leg) (9.4), and Skin - Not Sun Exposed (Suprapubic) (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AQP5 Gene

SOURCE GeneReport for Unigene cluster for AQP5 Gene Hs.298023

genes like me logo Genes that share expressions with AQP5: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for AQP5 Gene

Orthologs for AQP5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP5 35
  • 98.99 (n)
  • 99.62 (a)
AQP5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AQP5 35
  • 88.93 (n)
  • 88.68 (a)
AQP5 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP5 35
  • 88.89 (n)
  • 93.78 (a)
AQP5 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp5 35
  • 86.16 (n)
  • 90.57 (a)
Aqp5 16
Aqp5 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP5 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp5 35
  • 86.04 (n)
  • 90.94 (a)
chicken
(Gallus gallus)
Aves AQP5 35
  • 77.19 (n)
  • 76.05 (a)
AQP5 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp5 35
  • 63.13 (n)
  • 67.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7777 37
  • 41 (a)
soybean
(Glycine max)
eudicotyledons Gma.12965 35
corn
(Zea mays)
Liliopsida Zm.14436 35
wheat
(Triticum aestivum)
Liliopsida Ta.5652 35
Species with no ortholog for AQP5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AQP5 Gene

ENSEMBL:
Gene Tree for AQP5 (if available)
TreeFam:
Gene Tree for AQP5 (if available)

Paralogs for AQP5 Gene

Paralogs for AQP5 Gene

Selected SIMAP similar genes for AQP5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AQP5: view

Variants for AQP5 Gene

Sequence variations from dbSNP and Humsavar for AQP5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs41495048 -- 49,965,063(+) CCCAA(A/C/T)TCCCT missense, reference, synonymous-codon, downstream-variant-500B
rs75180659 -- 49,965,013(+) CCATC(A/G)TGGGG missense, reference, downstream-variant-500B
rs138128557 -- 49,964,952(+) AAGGT(C/G)TGGGG intron-variant, utr-variant-3-prime
rs142516089 -- 49,964,980(+) TGCCC(C/T)GTCTC intron-variant, utr-variant-3-prime
rs144078933 -- 49,965,029(+) CCTGG(A/C)TGCCA missense, reference, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for AQP5 Gene

Variant ID Type Subtype PubMed ID
nsv522972 CNV Gain 19592680
nsv832407 CNV Loss 17160897
nsv899072 CNV Loss 21882294
nsv899073 CNV Loss 21882294
nsv899074 CNV Loss 21882294
nsv523899 CNV Loss 19592680
esv27744 CNV Loss 19812545

Relevant External Links for AQP5 Gene

HapMap Linkage Disequilibrium report
AQP5
Human Gene Mutation Database (HGMD)
AQP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP5 Gene

Disorders for AQP5 Gene

(1) OMIM Diseases for AQP5 Gene (600442)

UniProtKB/Swiss-Prot

AQP5_HUMAN
  • Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. {ECO:0000269 PubMed:23830519}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for AQP5 Gene

(7) Novoseek inferred disease relationships for AQP5 Gene

Disease -log(P) Hits PubMed IDs
xerostomia 58.2 3
sjogrens syndrome 55.1 10
dry eye syndromes 51.9 1
nasal polyps 47.1 14
asthma 0 4

Relevant External Links for AQP5

Genetic Association Database (GAD)
AQP5
Human Genome Epidemiology (HuGE) Navigator
AQP5
genes like me logo Genes that share disorders with AQP5: view

Publications for AQP5 Gene

  1. The human aquaporin-5 gene. Molecular characterization and chromosomal localization. (PMID: 8621489) Lee M.D. … Agre P. (J. Biol. Chem. 1996) 2 3 4 23
  2. A novel-1364A/C aquaporin 5 gene promoter polymorphism influences the responses to salt loading of the renin-angiotensin-aldosterone system and of blood pressure in young healthy men. (PMID: 18846354) Adamzik M. … Siffert W. (Basic Res. Cardiol. 2008) 3 23 48
  3. Polymorphisms of aquaporin5 gene in chronic obstructive pulmonary disease in a Chinese population. (PMID: 18853286) Ning Y. … Wen F. (Swiss Med Wkly 2008) 3 23 48
  4. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. (PMID: 23830519) Blaydon D.C. … Kelsell D.P. (Am. J. Hum. Genet. 2013) 2 3 4
  5. Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. (PMID: 20360993) Dimasi D.P. … Craig J.E. (Mol. Vis. 2010) 3 23

Products for AQP5 Gene

Sources for AQP5 Gene

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