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] See more...

Aliases for AQP5 Gene

Aliases for AQP5 Gene

  • Aquaporin 5 2 3 5
  • Aquaporin-5 3 4
  • AQP-5 3 4
  • PPKB 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 Diffuse Palmoplantar Keratoderma, Bothnian Type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aquaporin-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP2.

UniProtKB/Swiss-Prot Summary for AQP5 Gene

  • Forms a water-specific channel (PubMed:8621489, PubMed:18768791). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity).

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

Additional gene information for AQP5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP5 Gene

Genomics for AQP5 Gene

GeneHancer (GH) Regulatory Elements for AQP5 Gene

Promoters and enhancers for AQP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J049962 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 757 +1.8 1849 1.7 SREBF1 FOXA1 NFIB SP1 RXRA TARDBP CTBP1 FOXA2 CHD2 RCOR1 AQP5 LOC101927318 AQP6 lnc-RACGAP1-3
GH12J049961 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 750.6 +0.3 305 0.8 EZH2 USF1 USF2 AQP5 LOC101927318
GH12J049959 Enhancer 0.9 ENCODE dbSUPER 750.6 -1.6 -1592 1.5 POLR2A SP1 PRDM1 GLIS2 SMARCC1 CHD2 GABPA MAX MXI1 EP300 AQP5 LIMA1 KMT2D LMBR1L ATF1 SMARCD1 ENSG00000257378 LOC101927318
GH12J050024 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 +63.6 63605 2.6 PPP1R10 SIN3A ZBTB40 SP1 SIX5 LCORL FOXA1 MLX RBPJ POLR2A RACGAP1 SMARCD1 LMBR1L KMT2D BCDIN3D PRPF40B SPATS2 TROAP ASIC1 ATF1
GH12J049945 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.2 -16.1 -16110 1.8 CTCF SMARCE1 CC2D1A L3MBTL2 MAX RAD21 TEAD4 ZNF280D GTF2F1 ZFX LMBR1L KMT2D SMARCD1 AQP5 LOC105369763 HSALNG0090988 AQP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQP5 gene promoter:
  • C/EBPbeta
  • CP2
  • FOXL1
  • HOXA9
  • LCR-F1
  • MyoD
  • p53
  • Pax-4a
  • Sp1

Genomic Locations for AQP5 Gene

Genomic Locations for AQP5 Gene
chr12:49,961,496-49,965,682
(GRCh38/hg38)
Size:
4,187 bases
Orientation:
Plus strand
chr12:50,355,279-50,359,464
(GRCh37/hg19)
Size:
4,186 bases
Orientation:
Plus strand

Genomic View for AQP5 Gene

Genes around AQP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homotetramer (PubMed:18768791, PubMed:26569106). Interacts with TRPV4; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity.

    Three dimensional structures from OCA and Proteopedia for AQP5 Gene

neXtProt entry for AQP5 Gene

Post-translational modifications for AQP5 Gene

  • Glycosylation at Asn124 and Asn125
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP5 Gene

Domains & Families for AQP5 Gene

Gene Families for AQP5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP5 Gene

Suggested Antigen Peptide Sequences for AQP5 Gene

GenScript: Design optimal peptide antigens:
  • Aquaporin-5 (AQP5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55064

UniProtKB/Swiss-Prot:

AQP5_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 AQP5: view

Function for AQP5 Gene

Molecular function for AQP5 Gene

UniProtKB/Swiss-Prot Function:
Forms a water-specific channel (PubMed:8621489, PubMed:18768791). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity).
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)

Phenotypes From GWAS Catalog for AQP5 Gene

Gene Ontology (GO) - Molecular Function for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0015250 water channel activity IDA 12801959
GO:0015267 channel activity IEA --
GO:0042802 identical protein binding IPI 18768791
genes like me logo Genes that share ontologies with AQP5: view
genes like me logo Genes that share phenotypes with AQP5: view

Human Phenotype Ontology for AQP5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AQP5 Gene

MGI Knock Outs for AQP5:

Animal Model Products

CRISPR Products

miRNA for AQP5 Gene

miRTarBase miRNAs that target AQP5

Clone Products

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

Localization for AQP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP5 Gene

Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Hypotonicity increases location at the cell membrane. Phosphorylation decreases location at the cell membrane. {ECO:0000269 PubMed:26569106}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AQP5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

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 IBA,TAS --
GO:0005887 integral component of plasma membrane IDA 26569106
GO:0005902 microvillus IEA --
GO:0009925 basal plasma membrane IEA --
genes like me logo Genes that share ontologies with AQP5: view

Pathways & Interactions for AQP5 Gene

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

Pathways by source for AQP5 Gene

1 KEGG pathway for AQP5 Gene
1 Qiagen pathway for AQP5 Gene
  • eNOS Signaling

Gene Ontology (GO) - Biological Process for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport IEA,TAS --
GO:0015670 carbon dioxide transport IDA,IBA 19273840
GO:0030157 pancreatic juice secretion IEP 12801959
GO:0042476 odontogenesis IEP 12522663
GO:0046541 saliva secretion IEA --
genes like me logo Genes that share ontologies with AQP5: view

No data available for SIGNOR curated interactions for AQP5 Gene

Drugs & Compounds for AQP5 Gene

(5) Drugs for AQP5 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hg<sup>2+</sup> Pharma Inhibitor 0
genes like me logo Genes that share compounds with AQP5: view

Transcripts for AQP5 Gene

mRNA/cDNA for AQP5 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(137) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP5 Gene

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

This gene is overexpressed in Testis (x17.3), Minor Salivary Gland (x10.9), Skin - Sun Exposed (Lower leg) (x9.4), and Skin - Not Sun Exposed (Suprapubic) (x7.3).

Protein differential expression in normal tissues from HIPED for AQP5 Gene

This gene is overexpressed in Nasal epithelium (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AQP5 Gene



Protein tissue co-expression partners for AQP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP5 Gene:

AQP5

SOURCE GeneReport for Unigene cluster for AQP5 Gene:

Hs.298023

mRNA Expression by UniProt/SwissProt for AQP5 Gene:

P55064-AQP5_HUMAN
Tissue specificity: Detected in skin eccrine sweat glands, at the apical cell membrane and at intercellular canaliculi (at protein level).

Evidence on tissue expression from TISSUES for AQP5 Gene

  • Eye(3.1)
  • Lung(2.9)
  • Saliva(2.3)
  • Nervous system(2.3)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with AQP5: view

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 33 32
  • 98.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AQP5 33 32
  • 88.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQP5 33 32
  • 88.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp5 17 33 32
  • 86.16 (n)
rat
(Rattus norvegicus)
Mammalia Aqp5 32
  • 86.04 (n)
oppossum
(Monodelphis domestica)
Mammalia AQP5 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP5 33 32
  • 77.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 75 (a)
OneToMany
-- 33
  • 75 (a)
OneToMany
-- 33
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp5 32
  • 63.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7777 34
  • 41 (a)
soybean
(Glycine max)
eudicotyledons Gma.12965 32
wheat
(Triticum aestivum)
Liliopsida Ta.5652 32
corn
(Zea mays)
Liliopsida Zm.14436 32
Species where no ortholog for AQP5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AQP5: view image

Paralogs for AQP5 Gene

(7) SIMAP similar genes for AQP5 Gene using alignment to 1 proteins:

  • AQP5_HUMAN
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 Variation AA Info Type
rs368292687 pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] 49,964,125(+) C/T coding_sequence_variant, missense_variant
rs398123054 pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] 49,962,130(+) C/A/T coding_sequence_variant, missense_variant
rs398123055 pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] 49,962,151(+) T/G coding_sequence_variant, missense_variant
rs398123056 pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] 49,964,092(+) A/G/T coding_sequence_variant, missense_variant
rs398123057 pathogenic, Diffuse palmoplantar keratoderma, Bothnian type, Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] 49,963,495(+) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv2618n54 CNV loss 21841781
esv27744 CNV loss 19812545
nsv522972 CNV gain 19592680
nsv523899 CNV loss 19592680
nsv558835 CNV gain 21841781
nsv558837 CNV loss 21841781
nsv832407 CNV loss 17160897

Variation tolerance for AQP5 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP5 Gene

Human Gene Mutation Database (HGMD)
AQP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP5

SNP Genotyping and Copy Number Assay Products

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

Disorders for AQP5 Gene

MalaCards: The human disease database

(17) MalaCards diseases for AQP5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, bothnian type
  • ppkb
diffuse palmoplantar keratoderma, bothnian type
  • palmoplantar keratoderma, bothnian type
diffuse palmoplantar keratoderma
  • diffuse ppk
pulmonary edema
dry eye syndrome
  • xerophthalmia
- elite association - COSMIC cancer census association via MalaCards
Search AQP5 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for AQP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AQP5: view

No data available for Genatlas for AQP5 Gene

Publications for AQP5 Gene

  1. The human Aquaporin-5 gene. Molecular characterization and chromosomal localization. (PMID: 8621489) Lee MD … Agre P (The Journal of biological chemistry 1996) 2 3 4 23 56
  2. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. (PMID: 23830519) Blaydon DC … Kelsell DP (American journal of human genetics 2013) 2 3 4 56
  3. 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 research in cardiology 2008) 3 23 43 56
  4. Polymorphisms of aquaporin5 gene in chronic obstructive pulmonary disease in a Chinese population. (PMID: 18853286) Ning Y … Wen F (Swiss medical weekly 2008) 3 23 43 56
  5. High-resolution x-ray structure of human aquaporin 5. (PMID: 18768791) Horsefield R … Neutze R (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 23 56

Products for AQP5 Gene

Sources for AQP5 Gene