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Aliases for AQP4 Gene

Aliases for AQP4 Gene

  • Aquaporin 4 2 3
  • MIWC 3 4 6
  • Mercurial-Insensitive Water Channel 3 4
  • WCH4 3 4
  • Aquaporin 4 Isoform Delta4 3
  • Aquaporin Type4 3
  • Aquaporin-4 3
  • HMIWC2 3
  • AQP-4 4

External Ids for AQP4 Gene

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. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for AQP4 Gene

AQP4 (Aquaporin 4) is a Protein Coding gene. Diseases associated with AQP4 include acute transverse myelitis and idiopathic acute transverse myelitis. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Spinal Cord Injury. GO annotations related to this gene include porin activity and water transmembrane transporter 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

Gene Wiki entry for AQP4 Gene

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

Genomics for AQP4 Gene

Genomic Location for AQP4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AQP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP4 Gene

Regulatory Elements 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

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).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn153 and Asn206

Other Protein References for AQP4 Gene

No data available for DME Specific Peptides for AQP4 Gene

Domains for AQP4 Gene

Gene Families for AQP4 Gene

HGNC:
  • AQP :Ion channels / Aquaporins
IUPHAR :

Protein Domains for AQP4 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

AQP4_HUMAN
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):
    • P55087
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.:
    • P55087
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 --
GO:0005372 water transmembrane transporter activity TAS 7559426
GO:0015250 water channel activity IBA --
GO:0015254 glycerol channel activity IBA --
GO:0015288 porin 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:

miRNA for AQP4 Gene

miRTarBase miRNAs that target AQP4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for AQP4 Gene COMPARTMENTS Subcellular localization image for AQP4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
endoplasmic reticulum 1
endosome 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:0005911 cell-cell junction IEA --
GO:0009897 external side of plasma membrane IDA 17645239
genes like me logo Genes that share ontologies with AQP4: view

Pathways 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 TAS 7559426
GO:0006833 water transport TAS --
GO:0007565 female pregnancy IEA --
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with AQP4: view

Compounds for AQP4 Gene

(1) HMDB Compounds for AQP4 Gene

Compound Synonyms Cas Number PubMed IDs
Water
  • Dihydrogen oxide
7732-18-5

(17) Novoseek inferred chemical compound relationships for AQP4 Gene

Compound -log(P) Hits PubMed IDs
glycerol 35.3 3
potassium 28.8 13
vas-a 25.1 1
oligonucleotide 0 1
chloride 0 2
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: -
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 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 (7.1), Brain - Caudate (basal ganglia) (6.9), Brain - Nucleus accumbens (basal ganglia) (6.7), Brain - Putamen (basal ganglia) (5.3), and Brain - Hippocampus (4.6).

Integrated Proteomics: protein expression 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

P55087-AQP4_HUMAN
Tissue specificity: Brain - muscle >> heart, kidney, lung, and trachea
genes like me logo Genes that share expressions with AQP4: view

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 36
  • 99.79 (n)
  • 99.69 (a)
AQP4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AQP4 36
  • 92.26 (n)
  • 96.59 (a)
AQP4 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP4 36
  • 92.16 (n)
  • 95.05 (a)
AQP4 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp4 36
  • 88.13 (n)
  • 93.19 (a)
Aqp4 16
Aqp4 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP4 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQP4 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp4 36
  • 86.48 (n)
  • 94.12 (a)
chicken
(Gallus gallus)
Aves AQP4 36
  • 82.34 (n)
  • 85.58 (a)
AQP4 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQP4 37
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp4 36
  • 73.27 (n)
  • 73.9 (a)
zebrafish
(Danio rerio)
Actinopterygii aqp4 36
  • 65.36 (n)
  • 64.82 (a)
aqp4 37
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AQP_ANOGA 36
  • 55.61 (n)
  • 53.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7777 37
  • 35 (a)
OneToMany
Drip 36
  • 55.71 (n)
  • 45.54 (a)
Drip 37
  • 38 (a)
OneToMany
CG7777 38
  • 41 (a)
CG17664 38
  • 37 (a)
CG17662 38
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 29 (a)
ManyToMany
AQY1 37
  • 23 (a)
ManyToMany
AQY2 37
  • 13 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PIP1C 36
  • 49.63 (n)
  • 44.44 (a)
rice
(Oryza sativa)
Liliopsida Os02g0823100 36
  • 48.1 (n)
  • 42.11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 27 (a)
OneToOne
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

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

Paralogs for AQP4 Gene

Paralogs for AQP4 Gene

Selected 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 MAF
rs14393 -- 26,855,248(-) ATTAG(A/C)TGAGA utr-variant-3-prime
rs335929 -- 26,855,623(+) AAGTT(A/C)GAATT utr-variant-3-prime
rs335930 -- 26,856,961(+) TGATC(A/C)AAACC intron-variant
rs335931 -- 26,859,108(+) TGACA(A/G)GTAAT intron-variant
rs455671 -- 26,862,092(+) ATTTT(A/G)GGGAT intron-variant

Relevant External Links for AQP4 Gene

HapMap Linkage Disequilibrium report
AQP4
Human Gene Mutation Database (HGMD)
AQP4

No data available for Structural Variations from Database of Genomic Variants (DGV) for AQP4 Gene

Disorders for AQP4 Gene

(41) Novoseek inferred disease relationships for AQP4 Gene

Disease -log(P) Hits PubMed IDs
neuromyelitis optica 97.1 57
myelitis transverse 89.5 6
brain edema 84.8 65
optic neuritis 84.4 5
demyelinating diseases 79.3 13

Relevant External Links for AQP4

Genetic Association Database (GAD)
AQP4
Human Genome Epidemiology (HuGE) Navigator
AQP4
genes like me logo Genes that share disorders with AQP4: view

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

Publications for AQP4 Gene

  1. Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia. (PMID: 16194264) Muratake T. … Someya T. (Psychiatry Clin. Neurosci. 2005) 3 23 49
  2. 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 23 49
  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 23 49
  4. Investigating the genetic role of aquaporin4 gene in migraine. (PMID: 19209385) Rubino E. … Pinessi L. (J Headache Pain 2009) 3 23 49
  5. 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 49

Products for AQP4 Gene

Sources for AQP4 Gene

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