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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
External Ids for AQP5 Gene
- HGNC: 638
- Entrez Gene: 362
- Ensembl: ENSG00000161798
- OMIM: 600442
- UniProtKB: P55064
Previous GeneCards Identifiers for AQP5 Gene
- GC12P050649
- GC12P050411
- GC12P050072
- GC12P048641
- GC12P047386
Summaries 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).
-
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.
Additional gene information for AQP5 Gene
- Monarch Initiative
- Search for AQP5 at DataMed
- Search for AQP5 at HumanCyc
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
- 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:
-
- 12q13.12 by HGNC
- 12q13.12 by Entrez Gene
- 12q13.12 by Ensembl
AQP5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for AQP5 Gene
Post-translational modifications for AQP5 Gene
Other Protein References for AQP5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ AQP5 Antibody
- NSJ Bioreagents AQP5 Antibody / Aquaporin 5
- Atlas Antibodies Anti-AQP5 Antibody
- Creative Diagnostics Anti-AQP5 monoclonal antibody, clone FQS4858 and Rabbit Anti-Human AQP5 Polyclonal Antibody
-
Custom Antibody ServicesOriGene Antibodies for AQP5
- Novus Biologicals Antibodies for AQP5
-
Abcam antibodies for AQP5
- Invitrogen Antibodies for AQP5 (AFLGC-AQP5)
-
Santa Cruz Biotechnology (SCBT) Antibodies for AQP5
Protein Products
- Atlas Antibodies PrEST Antigen AQP5
- Creative Biomart Recombinant Human AQP5 lysate
-
OriGene Purified Proteins for AQP5
- Search Origene for MassSpec and Protein Over-expression Lysates for AQP5
- Origene Custom Protein Services for AQP5
- antibodies-online: Show 8 available Aquaporin 5 Proteins ranked by validation data
- Compare Top Aquaporin 5 Proteins
-
Quality Products:
-
Abcam proteins for AQP5
Assay Products
- G Biosciences Immunotag™ Human AQP5 (Aquaporin-5) ELISA and Immunotag™ Aquaporin-5 ELISA Kit
- Aviva Systems Biology AQP5 ELISA Kit (Human) : 96 Wells (OKEH02652) and AQP5 ELISA Kit (Human) (OKCD06542)
- Novus Biologicals ELISA Kits for AQP5
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AQP5 Gene
- GenScript: Design optimal peptide antigens:
-
- Aquaporin-5 (AQP5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P55064UniProtKB/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.
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
| 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 |
Phenotypes for AQP5 Gene
- MGI mutant phenotypes for AQP5:
-
inferred from 3 alleles
- respiratory system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- endocrine/exocrine gland phenotype
- mortality/aging
- muscle phenotype
- hearing/vestibular/ear phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for AQP5:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for AQP5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AQP5
- genomics-online: gRNA clones - Search for available Aquaporin 5 gRNA products
- Overview of 114 available Aquaporin 5 gene related products
- Applied Biological Materials (abm): CRISPR Clones for AQP5 - Select products 50% OFF >
- * AQP5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AQP5 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for AQP5
miRNA for AQP5 Gene
- miRTarBase miRNAs that target AQP5
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AQP5
- Browse OriGene Inhibitory RNA Products For AQP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP5
- genomics-online: shRNA clones - Search for available Aquaporin 5 shRNA products
- Overview of 114 available Aquaporin 5 gene related products
Clone Products
- Sino Biological Human cDNA Clone for AQP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AQP5
- Applied Biological Materials (abm): Clones for AQP5 - Select products 50% OFF >
- * AQP5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AQP5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for AQP5
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| cytosol | 1 |
- Plasma membrane (2)
| 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 | -- |
Pathways & Interactions for AQP5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Aquaporin-mediated transport | ||
| 2 | Salivary secretion | ||
| 3 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
|
|
| 4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 5 | Stabilization and expansion of the E-cadherin adherens junction | ||
Pathways by source for AQP5 Gene
1 BioSystems pathway for AQP5 Gene
3 Reactome pathways for AQP5 Gene
1 KEGG pathway for AQP5 Gene
1 Qiagen pathway for AQP5 Gene
- eNOS Signaling
Interacting Proteins for AQP5 Gene
Selected Interacting proteins:
P55064-AQP5_HUMAN
ENSP00000293599
for AQP5 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for AQP5
| 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 | -- |
No data available for SIGNOR curated interactions for AQP5 Gene
Drugs & Compounds for AQP5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Hg<sup>2+</sup> | Pharma | Inhibitor | 0 |
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 :
-
- ENST00000293599 1449 bps (ENST00000293599.6)
- ENST00000553132 825 bps (ENST00000553132.1)
CRISPR Products
-
OriGene CRISPR knockouts for AQP5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AQP5
- genomics-online: gRNA clones - Search for available Aquaporin 5 gRNA products
- Overview of 114 available Aquaporin 5 gene related products
- Applied Biological Materials (abm): CRISPR Clones for AQP5 - Select products 50% OFF >
- * AQP5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AQP5 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for AQP5
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AQP5
- Browse OriGene Inhibitory RNA Products For AQP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP5
- genomics-online: shRNA clones - Search for available Aquaporin 5 shRNA products
- Overview of 114 available Aquaporin 5 gene related products
Clone Products
- Sino Biological Human cDNA Clone for AQP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AQP5
- Applied Biological Materials (abm): Clones for AQP5 - Select products 50% OFF >
- * AQP5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AQP5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for AQP5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Anterior Lens Epithelial Cells Lens
- Early Ameloblasts Dental Enamel
- Secondary Lens Fiber Cells Lens
- Type B cells Renal Collecting Duct System
- Inner Enamel Epithelial Cells Dental Enamel
-
Eye (Sensory Organs)
- Anterior Lens Epithelial Cells Lens
- Equatorial Lens Epithelial Cells Lens
- Transitional Lens Fiber Cells Lens
- Keratocytes Corneal Stroma
- Secondary Lens Fiber Cells Lens
-
Tooth (Integumentary System)
- Early Ameloblasts Dental Enamel
- Dental Papilla Cells Dental Papilla
- Odontoblasts Dentin
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Lung (Respiratory System)
-
Fibroblasts
- Keratocytes Corneal Stroma
-
Kidney (Urinary System)
- Type B cells Renal Collecting Duct System
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).
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
NURSA nuclear receptor signaling pathways regulating expression of AQP5 Gene:
AQP5SOURCE GeneReport for Unigene cluster for AQP5 Gene:
Hs.298023mRNA 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
Primer Products
-
OriGene qPCR primer pairs for AQP5
-
OriGene qPCR primer pairs and template standards for AQP5
- genomics-online: primer clones - Search for available Aquaporin 5 Primer products
- Overview of 114 available Aquaporin 5 gene related products
Gene Expression Assay Products
Orthologs for AQP5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AQP5 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AQP5 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AQP5 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Aqp5 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aqp5 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AQP5 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AQP5 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| -- 33 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aqp5 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7777 34 |
|
|
|
| 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
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP5 Gene
Disorders for AQP5 Gene
(17) MalaCards diseases for AQP5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| palmoplantar keratoderma, bothnian type |
|
|
| diffuse palmoplantar keratoderma, bothnian type |
|
|
| diffuse palmoplantar keratoderma |
|
|
| pulmonary edema |
|
|
| dry eye syndrome |
|
|
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
No data available for Genatlas for AQP5 Gene
Publications for AQP5 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for AQP5 Gene
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- Origene sirna, shrna, and RNAi products in human, mouse, rat for AQP5
- Browse OriGene Inhibitory RNA Products For AQP5
- OriGene qPCR primer pairs for AQP5
- OriGene qPCR primer pairs and template standards for AQP5
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- High-throughput Antibody Production Service
- Protein Production Service
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- Novus Biologicals Antibodies for AQP5
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- Invitrogen Antibodies for AQP5 (AFLGC-AQP5)
- antibodies-online: Show 30 available Aquaporin 5 Antibodies ranked by validation data
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- antibodies-online: Show 48 available Aquaporin 5 Elisa Kits ranked by validation data
- Compare Top Aquaporin 5 Elisa Kits
- Quality Products:
- antibodies-online: Show 8 available Aquaporin 5 Proteins ranked by validation data
- Compare Top Aquaporin 5 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for AQP5
- Search Santa Cruz Biotechnology (SCBT) for AQP5 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AQP5
- Horizon Cell Lines for AQP5
- genomics-online: cdna clones - Search for available Aquaporin 5 CDNA products
- Overview of 114 available Aquaporin 5 gene related products
- orf clones - Search for available Aquaporin 5 ORF products
- Overview of 114 available Aquaporin 5 gene related products
- genomics-online: gRNA clones - Search for available Aquaporin 5 gRNA products
- Overview of 114 available Aquaporin 5 gene related products
- genomics-online: primer clones - Search for available Aquaporin 5 Primer products
- Overview of 114 available Aquaporin 5 gene related products
- genomics-online: shRNA clones - Search for available Aquaporin 5 shRNA products
- Overview of 114 available Aquaporin 5 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AQP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AQP5
- Search GeneCopoeia for miRNA 3'UTR Target clone products for AQP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP5
Sources for AQP5 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource