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AQP4 Gene(Protein Coding)

Aquaporin 4

GCID:
GC18M026852
GIFtS:
64
Genes Participants
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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
  • Aquaporin-4 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 Aquaporin-mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP5.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP4 Gene

Genomics for AQP4 Gene

Products:

  1. Regulatory Element

Regulatory Elements for AQP4 Gene

Enhancers for AQP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G026862 1.1 Ensembl ENCODE 6.4 +1.5 1464 2.7 PKNOX1 ZNF76 YY1 GLIS2 ZNF366 SCRT2 ZNF548 ZNF263 SP3 CEBPB SS18 AQP4 LOC440489
GH18G026870 0.6 FANTOM5 8.6 -4.0 -4033 0.3 KLF1 RAD51 USF2 SPI1 AQP4 GC18M026877
GH18G026958 0.4 FANTOM5 10.1 -90.7 -90664 0.1 TRIM28 AQP4 CHST9 KCTD1 ATP6V1E1P2 GC18P026996
GH18G026894 0.3 FANTOM5 11.6 -28.5 -28509 0.4 AQP4 CHST9 GC18M026877 GC18P026935
GH18G026866 0.4 FANTOM5 7.4 -0.6 -635 0.1 MTA2 AQP4 KCTD1 CHST9 GC18M026877
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AQP4 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AQP4 gene promoter:

Genomic Location for AQP4 Gene

Chromosome:
18
Start:
26,852,038 bp from pter
End:
26,865,818 bp from pter
Size:
13,781 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for AQP4 Gene

Proteins for AQP4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P55087-AQP4_HUMAN
    Recommended name:
    Aquaporin-4
    Protein Accession:
    P55087
    Secondary Accessions:
    • P78564

    Protein attributes for AQP4 Gene

    Size:
    323 amino acids
    Molecular mass:
    34830 Da
    Quaternary structure:
    • Homotetramer. Part of a complex containing MLC1, TRPV4, HEPACAM and ATP1B1.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP4 Gene

Protein Expression for AQP4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=153153 and Asn206
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AQP4 Gene

Domains & Families for AQP4 Gene

Gene Families for AQP4 Gene

HGNC:
IUPHAR :

Protein Domains for AQP4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55087

UniProtKB/Swiss-Prot:

AQP4_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 AQP4: view

Function for AQP4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 --
GO:0005372 water transmembrane transporter activity TAS 7559426
GO:0005515 protein binding IPI 25910212
GO:0015250 water channel activity EXP,IBA --
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

CRISPR Products

miRNA for AQP4 Gene

miRTarBase miRNAs that target AQP4

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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 AQP4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AQP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18392839
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0009897 external side of plasma membrane IDA 17645239
GO:0016020 membrane IEA --
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:0003091 renal water homeostasis TAS --
GO:0006810 transport IEA,TAS 7559426
GO:0006833 water transport TAS --
GO:0034220 ion transmembrane transport IBA --
GO:0050891 multicellular organismal water homeostasis IEP 16814974
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

Products:

  1. Drug

(12) Drugs for AQP4 Gene - From: ClinicalTrials, HMDB, 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 2020
Water Approved Pharma 0
Angiogenesis Inhibitors Pharma 4257
Angiogenesis Modulating Agents Pharma 4185

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TC AQP1 1
37710-81-9
TGN 020
51987-99-6

(2) Tocris Compounds for AQP4 Gene

Compound Action Cas Number
TC AQP1 1 Aquaporin 1 (AQP1) channel blocker 37710-81-9
TGN 020 Aquaporin 4 (AQP4) channel blocker 51987-99-6
genes like me logo Genes that share compounds with AQP4: view

Transcripts for AQP4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AQP4 Gene

(5) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(167) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AQP4 Gene

Aquaporin 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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: -
SP4:
SP5: - - -
SP6: - -

Relevant External Links for AQP4 Gene

GeneLoc Exon Structure for
AQP4
ECgene alternative splicing isoforms for
AQP4

Expression for AQP4 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP4 Gene

mRNA expression in normal human tissues for AQP4 Gene
mRNA expression by BioGPS for AQP4 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for AQP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AQP4 Gene:

AQP4

SOURCE GeneReport for Unigene cluster for AQP4 Gene:

Hs.315369

mRNA Expression by UniProt/SwissProt for AQP4 Gene:

P55087-AQP4_HUMAN
Tissue specificity: Brain - muscle >> heart, kidney, lung, and trachea.

Evidence on tissue expression from TISSUES for AQP4 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Eye(3.1)
  • Muscle(2.4)
  • Blood(2.3)
  • Kidney(2.3)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with AQP4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP4 Gene

Orthologs for AQP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AQP4 34 35
  • 99.79 (n)
oppossum
(Monodelphis domestica)
 Mammalia AQP4 35
  • 95 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia AQP4 34 35
  • 92.26 (n)
dog
(Canis familiaris)
 Mammalia AQP4 34 35
  • 92.16 (n)
mouse
(Mus musculus)
 Mammalia Aqp4 34 16 35
  • 88.13 (n)
rat
(Rattus norvegicus)
 Mammalia Aqp4 34
  • 86.48 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia AQP4 35
  • 85 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AQP4 34 35
  • 82.34 (n)
lizard
(Anolis carolinensis)
 Reptilia AQP4 35
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia aqp4 34
  • 73.27 (n)
zebrafish
(Danio rerio)
 Actinopterygii aqp4 34 35
  • 65.36 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Drip 34 35
  • 55.71 (n)
CG7777 36 35
  • 41 (a)
CG17664 36
  • 37 (a)
CG17662 36
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AQP_ANOGA 34
  • 55.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 35
  • 29 (a)
 ManyToMany
AQY1 35
  • 23 (a)
 ManyToMany
AQY2 35
  • 13 (a)
 ManyToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons PIP1C 34
  • 49.63 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0823100 34
  • 48.1 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 27 (a)
 OneToOne
Species where no ortholog for AQP4 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for AQP4 (if available)
TreeFam:
Gene Tree for AQP4 (if available)

Paralogs for AQP4 Gene

Paralogs for AQP4 Gene

(7) SIMAP similar genes for AQP4 Gene using alignment to 8 proteins:

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
rs200498749 Uncertain significance 26,856,228(+) CAATA(C/T)CTCTC reference, missense
rs1000020578 -- 26,859,911(+) AAAAG(C/T)TAGCG intron-variant
rs1000281068 -- 26,865,893(+) TCAGG(A/C)ATGCA intron-variant, upstream-variant-2KB
rs1000294987 -- 26,860,237(+) TATTC(A/G)ACACC intron-variant
rs1000387935 -- 26,860,478(+) ATATA(C/T)AGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AQP4 Gene

Variant ID Type Subtype PubMed ID
esv2761995 CNV loss 21179565

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

Human Gene Mutation Database (HGMD)
AQP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP4 Gene

Disorders for AQP4 Gene

MalaCards: The human disease database

(48) 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
myelitis
transverse myelitis
  • myelitis transverse
- 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)
AQP4
Human Genome Epidemiology (HuGE) Navigator
AQP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP4
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. 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 22 46 64
  2. Investigating the genetic role of aquaporin4 gene in migraine. (PMID: 19209385) Rubino E. … Pinessi L. (J Headache Pain 2009) 3 22 46 64
  3. 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 22 46 64
  4. Can variation in aquaporin 4 gene be associated with different outcomes in traumatic brain edema? (PMID: 17890008) Romeiro R.R. … Correa H. (Neurosci. Lett. 2007) 3 22 46 64
  5. Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia. (PMID: 16194264) Muratake T. … Someya T. (Psychiatry Clin. Neurosci. 2005) 3 22 46 64

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