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Aliases for AQP4 Gene

Aliases for AQP4 Gene

  • Aquaporin 4 2 3 5
  • Mercurial-Insensitive Water Channel 3 4
  • MIWC 3 4
  • WCH4 3 4
  • Aquaporin Type4 3
  • AQP-4 4

External Ids for AQP4 Gene

Previous GeneCards Identifiers for AQP4 Gene

  • GC18M024370
  • GC18M024166
  • GC18M022687
  • GC18M022683
  • GC18M022686
  • GC18M024432
  • GC18M021281

Summaries for AQP4 Gene

Entrez Gene Summary for AQP4 Gene

  • This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]

GeneCards Summary for AQP4 Gene

AQP4 (Aquaporin 4) is a Protein Coding gene. Diseases associated with AQP4 include brain edema and neuromyelitis optica. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile 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 AQP4 Gene

  • Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.

Tocris Summary for AQP4 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 AQP4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP4 Gene

Genomics for AQP4 Gene

Regulatory Elements for AQP4 Gene

Genomic Location for AQP4 Gene

26,852,038 bp from pter
26,865,818 bp from pter
13,781 bases
Minus strand

Genomic View for AQP4 Gene

Genes around AQP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP4 Gene

Proteins for AQP4 Gene

  • Protein details for AQP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • P78564

    Protein attributes for AQP4 Gene

    323 amino acids
    Molecular mass:
    34830 Da
    Quaternary structure:
    • Homotetramer. Part of a complex containing MLC1, TRPV4, HEPACAM and ATP1B1.
    • Sequence=AAC50284.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC52112.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AQP4 Gene

    Alternative splice isoforms for AQP4 Gene


neXtProt entry for AQP4 Gene

Proteomics data for AQP4 Gene at MOPED

Post-translational modifications for AQP4 Gene

  • Phosphorylation by PKC at Ser-180 reduces conductance by 50%. Phosphorylation by PKG at Ser-111 in response to glutamats increases conductance by 40% (By similarity).
  • Glycosylation at Asn 153 and Asn 206
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for AQP4 Gene

Domains & Families for AQP4 Gene

Gene Families for AQP4 Gene


Protein Domains for AQP4 Gene


Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
genes like me logo Genes that share domains with AQP4: view

Function for AQP4 Gene

Molecular function for AQP4 Gene

GENATLAS Biochemistry:
aquaporin 4,mercurial insensitive water channel forming integral protein,predominantly expressed in brain and muscle,also expressed in heart,kidney,lung,trachea,hypothalamic osmoreceptor and regulator of vasopressin secretion
UniProtKB/Swiss-Prot Function:
Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.

Gene Ontology (GO) - Molecular Function for AQP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with AQP4: view
genes like me logo Genes that share phenotypes with AQP4: view

Animal Models for AQP4 Gene

MGI Knock Outs for AQP4:

Animal Model Products

miRNA for AQP4 Gene

miRTarBase miRNAs that target AQP4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AQP4 Gene

Localization for AQP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for AQP4 Gene COMPARTMENTS Subcellular localization image for AQP4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AQP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IDA 17645239
genes like me logo Genes that share ontologies with AQP4: view

Pathways & Interactions for AQP4 Gene

genes like me logo Genes that share pathways with AQP4: view

Gene Ontology (GO) - Biological Process for AQP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015793 glycerol transport IBA --
GO:0034220 ion transmembrane transport IBA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with AQP4: view

No data available for SIGNOR curated interactions for AQP4 Gene

Drugs & Compounds for AQP4 Gene

(11) Drugs for AQP4 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 1875
Angiogenesis Inhibitors Pharma 3688
Angiogenesis Modulating Agents Pharma 3611

(11) Additional Compounds for AQP4 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Dihydrogen oxide
  • Steam

(1) Tocris Compounds for AQP4 Gene

Compound Action Cas Number
TC AQP1 1 Aquaporin 1 (AQP1) channel blocker 37710-81-9
genes like me logo Genes that share compounds with AQP4: view

Transcripts for AQP4 Gene

Unigene Clusters for AQP4 Gene

Aquaporin 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AQP4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - -
SP3: -
SP5: - - -
SP6: - -

Relevant External Links for AQP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AQP4 Gene

mRNA expression in normal human tissues for AQP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP4 Gene

This gene is overexpressed in Brain - Amygdala (x7.1), Brain - Caudate (basal ganglia) (x6.9), Brain - Nucleus accumbens (basal ganglia) (x6.7), Brain - Putamen (basal ganglia) (x5.3), and Brain - Hippocampus (x4.6).

Protein differential expression in normal tissues from HIPED for AQP4 Gene

This gene is overexpressed in Spinal cord (27.7), Brain (24.1), and Frontal cortex (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AQP4 Gene

SOURCE GeneReport for Unigene cluster for AQP4 Gene Hs.315369

mRNA Expression by UniProt/SwissProt for AQP4 Gene

Tissue specificity: Brain - muscle >> heart, kidney, lung, and trachea.
genes like me logo Genes that share expression patterns with AQP4: view

Protein tissue co-expression partners for AQP4 Gene

- Elite partner

In Situ Assay Products

Orthologs for AQP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AQP4 35
  • 92.26 (n)
  • 96.59 (a)
AQP4 36
  • 97 (a)
(Canis familiaris)
Mammalia AQP4 35
  • 92.16 (n)
  • 95.05 (a)
AQP4 36
  • 94 (a)
(Mus musculus)
Mammalia Aqp4 35
  • 88.13 (n)
  • 93.19 (a)
Aqp4 16
Aqp4 36
  • 93 (a)
(Pan troglodytes)
Mammalia AQP4 35
  • 99.79 (n)
  • 99.69 (a)
AQP4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Aqp4 35
  • 86.48 (n)
  • 94.12 (a)
(Monodelphis domestica)
Mammalia AQP4 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia AQP4 36
  • 85 (a)
(Gallus gallus)
Aves AQP4 35
  • 82.34 (n)
  • 85.58 (a)
AQP4 36
  • 82 (a)
(Anolis carolinensis)
Reptilia AQP4 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp4 35
  • 73.27 (n)
  • 73.9 (a)
(Danio rerio)
Actinopterygii aqp4 35
  • 65.36 (n)
  • 64.82 (a)
aqp4 36
  • 62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17662 37
  • 34 (a)
CG17664 37
  • 37 (a)
CG7777 37
  • 41 (a)
Drip 35
  • 55.71 (n)
  • 45.54 (a)
CG7777 36
  • 35 (a)
Drip 36
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AQP_ANOGA 35
  • 55.61 (n)
  • 53.27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 29 (a)
AQY1 36
  • 23 (a)
AQY2 36
  • 13 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PIP1C 35
  • 49.63 (n)
  • 44.44 (a)
(Oryza sativa)
Liliopsida Os02g0823100 35
  • 48.1 (n)
  • 42.11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
Species with no ortholog for AQP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AQP4 Gene

Gene Tree for AQP4 (if available)
Gene Tree for AQP4 (if available)

Paralogs for AQP4 Gene

Paralogs for AQP4 Gene

genes like me logo Genes that share paralogs with AQP4: view

Variants for AQP4 Gene

Sequence variations from dbSNP and Humsavar for AQP4 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs14393 -- 26,855,248(-) ATTAG(A/C)TGAGA utr-variant-3-prime
rs502343 -- 26,862,762(+) TAGTC(A/C)AGAGA intron-variant, upstream-variant-2KB
rs507571 -- 26,856,697(+) AACAA(A/G)AAGAA intron-variant
rs650217 -- 26,857,614(-) gcacg(A/G)tggct intron-variant
rs335929 -- 26,855,623(+) AAGTT(A/C)GAATT utr-variant-3-prime

Variation tolerance for AQP4 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AQP4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AQP4 Gene

Disorders for AQP4 Gene

MalaCards: The human disease database

(46) MalaCards diseases for AQP4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brain edema
  • intracranial swelling
neuromyelitis optica
  • devic's disease
optic neuritis
demyelinating disease
  • demyelinating disorder
- elite association - COSMIC cancer census association via MalaCards
Search AQP4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AQP4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AQP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AQP4 Gene

Publications for AQP4 Gene

  1. The role of aquaporin-4 polymorphisms in the development of brain edema after middle cerebral artery occlusion. (PMID: 18309154) Kleffner I. … KuhlenbAoumer G. (Stroke 2008) 3 23 48 67
  2. Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. (PMID: 19864112) Heuser K. … Ottersen O.P. (Epilepsy Res. 2010) 3 23
  3. Beyond water channel: aquaporin-4 in adult neurogenesis. (PMID: 20138100) Zheng G.Q. … Shen J. (Neurochem. Int. 2010) 3 23
  4. Differential expression of aquaporin-4 isoforms localizes with neuromyelitis optica disease activity. (PMID: 20227773) Saini H. … Levy M. (J. Neuroimmunol. 2010) 3 23
  5. Aquaporin expression in normal and pathological skeletal muscles: a brief review with focus on AQP4. (PMID: 20339523) Wakayama Y. (J. Biomed. Biotechnol. 2010) 3 23

Products for AQP4 Gene

Sources for AQP4 Gene

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