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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 2017]

GeneCards Summary for AQP4 Gene

AQP4 (Aquaporin 4) is a Protein Coding gene. Diseases associated with AQP4 include Neuromyelitis Optica and Optic Neuritis. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for AQP4 Gene

Promoters and enhancers for AQP4 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
GH18J026862 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 656.4 +1.4 1447 2.8 PKNOX1 YY1 ZNF335 GLIS2 ZNF366 SCRT2 ZNF548 SP3 ZBTB11 REST AQP4 SS18 LOC440489 AQP4-AS1
GH18J026866 Enhancer 0.2 FANTOM5 657.4 -0.6 -634 0.1 AQP4 KCTD1 CHST9 GC18M026877 AQP4-AS1
GH18J026870 Enhancer 0.5 FANTOM5 8.6 -4.0 -4033 0.3 KLF1 RUNX3 SPI1 AQP4 GC18M026877 AQP4-AS1
GH18J026894 Enhancer 0.2 FANTOM5 11.6 -28.5 -28508 0.4 AQP4 CHST9 GC18M026877 GC18P026935 AQP4-AS1
GH18J026958 Enhancer 0.2 FANTOM5 10.1 -90.7 -90664 0.1 AQP4 CHST9 KCTD1 ATP6V1E1P2 GC18P026996 AQP4-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQP4 gene promoter:
  • YY1
  • HSF1 (long)
  • HSF1short
  • c-Myb
  • Pax-4a
  • C/EBPalpha

Genomic Locations for AQP4 Gene

Genomic Locations for AQP4 Gene
chr18:26,852,038-26,865,818
(GRCh38/hg38)
Size:
13,781 bases
Orientation:
Minus strand
chr18:24,432,002-24,445,782
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for AQP4 Gene

Proteins for AQP4 Gene

  • 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

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=206206 and Asn153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AQP4 Gene

Domains & Families for AQP4 Gene

Gene Families for AQP4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP4 Gene

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

Molecular function for AQP4 Gene

UniProtKB/Swiss-Prot Function:
Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.
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

Gene Ontology (GO) - Molecular Function for AQP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005372 water transmembrane transporter activity TAS 7559426
GO:0005515 protein binding IPI 25910212
GO:0015250 water channel activity EXP,IBA --
GO:0015267 channel 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:
  • Aqp4 Aqp4<tm1Ask>
  • Aqp4 Aqp4<tm1.1Lmno>
  • Aqp4 Aqp4<tm1.1Tsna>
  • Aqp4 Aqp4<tm1.1Mysi>
  • Aqp4 Aqp4<tm1Tsna>

Animal Model Products

miRNA for AQP4 Gene

miRTarBase miRNAs that target AQP4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
See all subcellular structures

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:0006833 water transport TAS --
GO:0034220 ion transmembrane transport IBA --
GO:0050891 multicellular organismal water homeostasis IEP 16814974
GO:0055085 transmembrane transport IEA --
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

(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 2087
Water Approved Pharma 0
Angiogenesis Inhibitors Pharma 4399
Angiogenesis Modulating Agents Pharma 4324

(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

mRNA/cDNA for AQP4 Gene

Unigene Clusters for AQP4 Gene

Aquaporin 4:
Representative Sequences:

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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)
  • Heart(2)
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 33
  • 99.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP4 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AQP4 34 33
  • 92.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQP4 34 33
  • 92.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp4 16 34 33
  • 88.13 (n)
rat
(Rattus norvegicus)
Mammalia Aqp4 33
  • 86.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQP4 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP4 34 33
  • 82.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQP4 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp4 33
  • 73.27 (n)
zebrafish
(Danio rerio)
Actinopterygii aqp4 34 33
  • 65.36 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Drip 34 33
  • 55.71 (n)
OneToMany
CG17664 35
  • 37 (a)
CG7777 34 35
  • 35 (a)
OneToMany
CG17662 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AQP_ANOGA 33
  • 55.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 29 (a)
ManyToMany
AQY1 34
  • 23 (a)
ManyToMany
AQY2 34
  • 13 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PIP1C 33
  • 49.63 (n)
rice
(Oryza sativa)
Liliopsida Os02g0823100 33
  • 48.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AQP4: view image

Paralogs for AQP4 Gene

Paralogs for AQP4 Gene

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

  • AQP4_HUMAN
  • F1DSG4_HUMAN
  • H0Y3H5_HUMAN
  • J3KRM4_HUMAN
  • L0R6C7_HUMAN
  • Q6L7A0_HUMAN
  • Q9H3V7_HUMAN
  • V9PBN7_HUMAN
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 Variation AA Info Type
rs200498749 uncertain-significance, not specified 26,856,228(-) C/T coding_sequence_variant, missense_variant
rs1000020578 -- 26,859,911(-) C/T intron_variant
rs1000281068 -- 26,865,893(-) A/C upstream_transcript_variant
rs1000294987 -- 26,860,237(-) G/A intron_variant
rs1000387935 -- 26,860,478(-) C/T 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)

Additional Variant Information for AQP4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AQP4 Gene

MalaCards: The human disease database

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

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

Additional Disease Information for AQP4

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 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 OP (Epilepsy research 2010) 3 22 44 58
  2. Investigating the genetic role of aquaporin4 gene in migraine. (PMID: 19209385) Rubino E … Pinessi L (The journal of headache and pain 2009) 3 22 44 58
  3. The role of aquaporin-4 polymorphisms in the development of brain edema after middle cerebral artery occlusion. (PMID: 18309154) Kleffner I … Kuhlenbäumer G (Stroke 2008) 3 22 44 58
  4. Can variation in aquaporin 4 gene be associated with different outcomes in traumatic brain edema? (PMID: 17890008) Romeiro RR … Correa H (Neuroscience letters 2007) 3 22 44 58
  5. Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia. (PMID: 16194264) Muratake T … Someya T (Psychiatry and clinical neurosciences 2005) 3 22 44 58

Products for AQP4 Gene

Sources for AQP4 Gene

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