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Aliases for AQP5 Gene

Aliases for AQP5 Gene

  • Aquaporin 5 2 3 5
  • 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 Dry Eye Syndrome. Among its related pathways are Aquaporin-mediated transport and Salivary secretion. GO annotations related to this gene include transporter activity and glycerol 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. Required for TRPV4 activation by hypotonicity (PubMed:16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723).

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

Enhancers for AQP5 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 AQP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for AQP5 Gene

Chromosome:
12
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

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:
    • 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

Proteomics data for AQP5 Gene at MOPED

Post-translational modifications for AQP5 Gene

  • Glycosylation at Asn 124 and Asn 125
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AQP5 Gene

Domains & Families for AQP5 Gene

Gene Families for AQP5 Gene

HGNC:
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 :
  • 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

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. Required for TRPV4 activation by hypotonicity (PubMed:16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723).
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

miRNA for AQP5 Gene

miRTarBase miRNAs that target AQP5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Gene Ontology (GO) - Biological Process for AQP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport IEA,TAS --
GO:0015793 glycerol transport IBA --
GO:0034220 ion transmembrane transport IBA --
GO:0042476 odontogenesis IEP 12522663
GO:0055085 transmembrane transport TAS --
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

Unigene Clusters for AQP5 Gene

Aquaporin 5:
Representative Sequences:

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 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, PaxDb, and MOPED for AQP5 Gene



SOURCE GeneReport for Unigene cluster for AQP5 Gene Hs.298023

genes like me logo Genes that share expression patterns with AQP5: view

Protein tissue co-expression partners for AQP5 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia AQP5 35
  • 98.99 (n)
  • 99.62 (a)
AQP5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp5 35
  • 86.04 (n)
  • 90.94 (a)
oppossum
(Monodelphis domestica)
Mammalia AQP5 36
  • 74 (a)
OneToOne
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
wheat
(Triticum aestivum)
Liliopsida Ta.5652 35
corn
(Zea mays)
Liliopsida Zm.14436 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

(7) 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
VAR_070442 Keratoderma, palmoplantar, Bothnian type (PPKB)
VAR_070443 Keratoderma, palmoplantar, Bothnian type (PPKB)
VAR_070444 Keratoderma, palmoplantar, Bothnian type (PPKB)
VAR_070445 Keratoderma, palmoplantar, Bothnian type (PPKB)
VAR_070446 Keratoderma, palmoplantar, Bothnian type (PPKB)

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

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)

Relevant External Links for AQP5 Gene

Human Gene Mutation Database (HGMD)
AQP5

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

Disorders for AQP5 Gene

MalaCards: The human disease database

(16) MalaCards diseases for AQP5 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, bothnian type
  • diffuse palmoplantar keratoderma, bothnian type
dry eye syndrome
  • xerophthalmia
palmoplantar keratoderma, nonepidermolytic
  • nonepidermolytic palmoplantar keratoderma
meniere's disease
  • meniere disease
dacryoadenitis
  • dacryocystitis
- 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.

Relevant External Links for AQP5

Genetic Association Database (GAD)
AQP5
Human Genome Epidemiology (HuGE) Navigator
AQP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP5
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 M.D. … Agre P. (J. Biol. Chem. 1996) 2 3 4 23 67
  2. 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
  3. Expression profile of multiple aquaporins in human gastric carcinoma and its clinical significance. (PMID: 20106632) Shen L. … Wu W. (Biomed. Pharmacother. 2010) 3 23
  4. 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
  5. Aquaporin 5 expression inhibited by LPS via p38/JNK signaling pathways in SPC-A1 cells. (PMID: 20362698) Shen Y. … Bai C. (Respir Physiol Neurobiol 2010) 3 23

Products for AQP5 Gene

Sources for AQP5 Gene

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