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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AQP4 Gene

protein-coding   GIFtS: 66
GCID: GC18M024432

Aquaporin 4

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aquaporin 41 2     HMIWC22
MIWC2 3 5     Aquaporin Type42
Mercurial-Insensitive Water Channel2 3     aquaporin-42
WCH42 3     AQP-43

External Ids:    HGNC: 6371   Entrez Gene: 3612   Ensembl: ENSG000001718857   OMIM: 6003085   UniProtKB: P550873   

Export aliases for AQP4 gene to outside databases

Previous GC identifers: GC18M024370 GC18M024166 GC18M022687 GC18M022683 GC18M022686 GC18M021281


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neuromyelitis optica, and brain edema, and among its related super-pathways are Aquaporin-mediated transport and SLC-mediated transmembrane transport. GO annotations related to this gene include porin activity and water transmembrane transporter activity. An important paralog of this gene is ENSG00000250424.

UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087
Function: 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 (Aquaporin 4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AQP4 gene promoter:
         c-Myb   HSF1short   HSF1 (long)   Pax-4a   C/EBPalpha   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQP4 promoter sequence
   Search SABiosciences Chromatin IP Primers for AQP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q11.2-q12.1   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2-q12.1

AQP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP4 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M024432:  view genomic region     (about GC identifiers)

Start:
24,432,002 bp from pter      End:
24,445,782 bp from pter
Size:
13,781 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087 (See protein sequence)
Recommended Name: Aquaporin-4  
Size: 323 amino acids; 34830 Da
Subunit: Homotetramer. Part of a complex containing MLC1, TRPV4, HEPACAM and ATP1B1
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAC50284.1; Type=Erroneous initiation; Sequence=AAC52112.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for AQP4:
3GD8 (3D)    
Secondary accessions: P78564
Alternative splicing: 2 isoforms:  P55087-1   P55087-2   

Explore the universe of human proteins at neXtProt for AQP4: NX_P55087

Explore proteomics data for AQP4 at MOPED 

Post-translational modifications:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55087

  • AQP4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AQP4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001641.1  NP_004019.1  

    ENSEMBL proteins: 
     ENSP00000372654   ENSP00000462597   ENSP00000393121   ENSP00000462075   ENSP00000372656  
    Reactome Protein details: P55087
    Human Recombinant Protein Products for AQP4: 
    EMD Millipore Purified and/or Recombinant AQP4 Protein
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    Cloud-Clone Corp. Proteins for AQP4 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18392839
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0005911cell-cell junction IEA--
    GO:0009897external side of plasma membrane IDA17645239

    AQP4 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for AQP4 
    Cloud-Clone Corp. CLIAs for AQP4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AQP: Ion channels / Aquaporins

    IUPHAR Guide to PHARMACOLOGY protein family classification: AQP4 
    Aquaporins

    3 InterPro protein domains:
     IPR022357 MIP_CS
     IPR023271 Aquaporin-like
     IPR000425 MIP

    Graphical View of Domain Structure for InterPro Entry P55087

    ProtoNet protein and cluster: P55087

    1 Blocks protein domain: IPB000425 MIP family

    UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087
    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)
    Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


    AQP4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AQP4_HUMAN, P55087
    Function: Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow
    within the central nervous system

         Genatlas biochemistry entry for AQP4:
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005372water transmembrane transporter activity TAS7559426
    GO:0015250water channel activity EXP--
    GO:0015288porin activity IEA--
         
    AQP4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AQP4:
     Decreased nuclei size in G2M 

         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Aqp4):
     behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     no phenotypic analysis  renal/urinary system  respiratory system  vision/eye 

    AQP4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AQP4: Aqp4tm1.1Tsna Aqp4tm1Tsna Aqp4tm1.1Lmno Aqp4tm1Ask

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AQP4 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQP4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AQP4 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AQP4 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.84
    Aquaporin-mediated transport0.84
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    4Vasopressin-regulated water reabsorption
    Vasopressin-regulated water reabsorption
    5Spinal Cord Injury
    Spinal Cord Injury

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP4
        eNOS Signaling

    2 BioSystems Pathways for AQP4
        SIDS Susceptibility Pathways
    Spinal Cord Injury


    4        Reactome Pathways for AQP4
        Transmembrane transport of small molecules
    Aquaporin-mediated transport
    Regulation of Water Balance by Renal Aquaporins
    Passive Transport by Aquaporins


    2         Kegg Pathways  (Kegg details for AQP4):
        Vasopressin-regulated water reabsorption
    Bile secretion


    AQP4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AQP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for AQP4 (P550873 ENSP000003726544) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2A2P197843, ENSP000002625064I2D: score=1 STRING: ENSP00000262506
    AP2M1Q96CW13, ENSP000002928074I2D: score=2 STRING: ENSP00000292807
    AP3M1Q9Y2T23, ENSP000003474084I2D: score=1 STRING: ENSP00000347408
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    SEC61A1P616193I2D: score=1 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7559426
    GO:0006833water transport TAS--
    GO:0007399nervous system development TAS7528931
    GO:0007565female pregnancy IEA--
    GO:0007588excretion TAS7528931

    AQP4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AQP4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AQP4

    1 HMDB Compound for AQP4    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/17 Novoseek inferred chemical compound relationships for AQP4 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 35.3 4 17525633 (1), 17044001 (1), 7540850 (1)
    potassium 28.8 14 18186079 (2), 15488478 (2), 20030210 (1), 15723236 (1) (see all 11)
    vas-a 25.1 1 7540850 (1)
    oligonucleotide 0 1 12618402 (1)
    chloride 0 2 19305791 (1), 15365806 (1)
    sodium 0 1 15365806 (1)
    bicarbonate 0 2 9200715 (1), 15365806 (1)
    sucrose 0 1 17593398 (1)
    mercury 0 1 15561410 (1)
    gold 0 6 11256996 (2), 19836227 (1), 20117794 (1)

    Search CenterWatch for drugs/clinical trials and news about AQP4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AQP4 gene (2 alternative transcripts): 
    NM_001650.4  NM_004028.3  

    Unigene Cluster for AQP4:

    Aquaporin 4
    Hs.315369  [show with all ESTs]
    Unigene Representative Sequence: NM_001650
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000383168(uc002kvz.3 uc002kwa.3) ENST00000581374 ENST00000440832
    ENST00000583022 ENST00000584088 ENST00000578776 ENST00000383170
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB128929.1 AB209156.1 AK026728.1 AK222684.1 AK295069.1 BC022286.1 BC030745.1 BC045780.1 
    D63412.1 HQ901095.1 U34845.1 U63622.1 U63623.1 

    4 DOTS entries:

    DT.443332  DT.216490  DT.121091932  DT.121091968 

    24/167 AceView cDNA sequences (see all 167):

    U63622 AL138136 NM_004028 N54211 Z45355 Z41068 U63623 N51085 
    BF059437 AA707906 AI359402 CB156223 AI969232 AW026657 T16668 BM992827 
    NM_001650 N72577 AB128929 CA438455 AW197630 BE504976 AV729035 BF593783 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AQP4 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c
    SP1:                    -     -                 -                                                   
    SP2:                    -     -     -           -                                                   
    SP3:                                            -                                                   
    SP4:                                                                                                
    SP5:                    -     -                 -                                                   


    ECgene alternative splicing isoforms for AQP4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AQP4 expression in normal human tissues (normalized intensities)      AQP4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATTTATGA
    AQP4 Expression
    About this image


    AQP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Fetal Neuronal Stem Cells (NSC)   
             caudate nucleus   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Collecting Duct Cells Renal Collecting Duct System
             Metanephros
             Tubular cell-enriched subpopulation of renal cells
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Biliary Epithelial Cells Intrahepatic Biliary Tree
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See AQP4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AQP4

    SOURCE GeneReport for Unigene cluster: Hs.315369

    UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087
    Tissue specificity: Brain - muscle >> heart, kidney, lung, and trachea

        SABiosciences Expression via Pathway-Focused PCR Arrays including AQP4: 
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              Osmotic Stress in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AQP4 gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aqp41 , 5 aquaporin 41, 5 88.13(n)1
    93.19(a)1
      18 (8.74 cM)5
    118291  NM_009700.21  NP_033830.21 
     153893945 
    chicken
    (Gallus gallus)
    Aves AQP41 aquaporin 4 82.34(n)
    85.58(a)
      421088  NM_001004765.1  NP_001004765.1 
    lizard
    (Anolis carolinensis)
    Reptilia AQP46
    aquaporin 4
    83(a)
    1 ↔ 1
    4(36445020-36460870)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ058860.12   -- 72.55(n)    BJ058860.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aqp41 aquaporin 4 65.58(n)
    64.82(a)
      445293  NM_001003749.1  NP_001003749.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77773
    Drip1
    water transporter3
    CG9023-PA1
    41(a)
    (best of 3)3
    55.98(n)1
    46.41(a)1
      47F133
    362361  NM_165833.21  NP_725051.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YLL053C6
    AQY16
    (see all 3)
    Putative protein; in the Sigma 1278B strain backgr...
    Spore-specific water channel that mediates the tra...
    (see all 3)
    25(a)
    22(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    XII(35503-35961)
    XVI(921860-922777)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PIP2;81 putative aquaporin PIP2-8 54.13(n)
    43.58(a)
      816186  NM_127238.2  NP_179277.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g02334001 hypothetical protein 49.77(n)
    41.55(a)
      4335226  NM_001058827.1  NP_001052292.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AQP4 gene
    ENSG000002504242  AQP82  AQP22  MIP2  AQP52  AQP12  AQP62  
    7 SIMAP similar genes for AQP4 using alignment to 7 protein entries:     AQP4_HUMAN (see all proteins):
    AQP6    AQP 1    AQP2    MIP    AQP5    AQP1
    DKFZp434D2030

    AQP4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/385 SNPs in AQP4 are shown (see all 385)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs779646631,2
    C,F--24425172(+) CCACTC/GATCTG 2 -- ds50012Minor allele frequency- G:0.05CSA WA 120
    rs1412542011,2
    C--24425268(+) AGAAC-/CCAGG 
    GAGTTAAA
    CCAGT
    2 -- ds50010--------
    rs1832875631,2
    --24425275(+) AGGGAC/GTTAAA 2 -- ds50010--------
    rs1872365971,2
    --24425277(+) GGAGTC/TAAACC 2 -- ds50010--------
    rs741636851,2
    C--24425320(-) GATTCC/TGCCTA 2 -- ds50010--------
    rs169428511,2
    C,F,H--24425352(+) ATCATT/GTATTT 2 -- ds500122Minor allele frequency- G:0.18NA NS EA WA 2476
    rs769278991,2
    F--24425446(+) GATGCA/GGACAT 2 -- ds50010--------
    rs1494616671,2
    C--24425464(+) TAAGCC/TTGTAC 2 -- ds50010--------
    rs1916858791,2
    --24425517(+) ATACTC/GTGCAG 2 -- ds50010--------
    rs739459701,2
    C,F--24425602(+) ACCTGC/TTGATC 2 -- ds50013Minor allele frequency- T:0.06WA NA 240

    HapMap Linkage Disequilibrium report for AQP4 (24432002 - 24445782 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AQP4: --

    Human Gene Mutation Database (HGMD): AQP4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AQP4
    DNA2.0 Custom Variant and Variant Library Synthesis for AQP4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600308    OMIM disorders: --

    20/83 diseases for AQP4 (see all 83):    About MalaCards
    neuromyelitis optica    brain edema    myelitis    transverse myelitis
    neuromyelitis optica spectrum disorder    optic neuritis    cerebral artery occlusion    yaws
    internuclear ophthalmoplegia    intracranial hypertension    devic disease    neonatal stroke
    dysferlinopathy    neuritis    bacterial meningitis    syringomyelia
    bovine spongiform encephalopathy    dystrophinopathies    hepatic encephalopathy    megalencephalic leukoencephalopathy with subcortical cysts

    10 diseases from the University of Copenhagen DISEASES database for AQP4:
    Neuromyelitis optica     Myelitis     Optic neuritis     Brain edema
    Multiple sclerosis     Nephrogenic diabetes insipidus     Syringomyelia     Acute disseminated encephalomyelitis
    Hydrocephalus     Cerebrovascular accident

    AQP4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/41 Novoseek inferred disease relationships for AQP4 gene (see all 41)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuromyelitis optica 97.1 70 18625857 (5), 20128675 (2), 17143632 (2), 20047900 (2) (see all 49)
    myelitis transverse 89.5 6 18625857 (2), 18805556 (1), 18510734 (1), 18509235 (1) (see all 5)
    brain edema 84.8 90 19000426 (7), 18309154 (6), 19764565 (5), 20356447 (3) (see all 37)
    optic neuritis 84.4 6 19140826 (1), 18510734 (1), 18509235 (1), 20019228 (1) (see all 5)
    demyelinating diseases 79.3 18 18509092 (1), 19938104 (1), 17495617 (1), 18516975 (1) (see all 13)
    cytotoxic brain edema 78.1 6 18546539 (1), 17335082 (1), 19114109 (1)
    myelitis 75.7 5 19348177 (1), 19140826 (1), 18509235 (1), 19917985 (1)
    multiple sclerosis 72.3 19 17143632 (2), 19465451 (2), 17439988 (1), 19448080 (1) (see all 13)
    cerebral edema 70.6 16 19096776 (3), 18095136 (1), 18442833 (1), 19198125 (1) (see all 9)
    water intoxication 60.9 8 10795927 (1), 12162729 (1), 14734638 (1), 19114109 (1)

    Genetic Association Database (GAD): AQP4
    Human Genome Epidemiology (HuGE) Navigator: AQP4 (9 documents)

    Export disorders for AQP4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AQP4 gene, integrated from 9 sources (see all 393):
    (articles sorted by number of sources associating them with AQP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of aquaporin-4 polymorphisms in the development of brain edema after middle cerebral artery occlusion. (PubMed id 18309154)1, 4, 9 Kleffner I....Kuhlenbaumer G. (2008)
    2. Variants of the genes encoding AQP4 and Kir4.1 are as sociated with subgroups of patients with temporal lobe epilepsy. (PubMed id 19864112)1, 4, 9 Heuser K....Ottersen O.P. (2009)
    3. Investigating the genetic role of aquaporin4 gene in migraine. (PubMed id 19209385)1, 4, 9 Rubino E....Pinessi L. (2009)
    4. Can variation in aquaporin 4 gene be associated with different outcomes in traumatic brain edema? (PubMed id 17890008)1, 4, 9 Romeiro R.R....Correa H. (2007)
    5. Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia. (PubMed id 16194264)1, 4, 9 Muratake T....Someya T. (2005)
    6. The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. (PubMed id 8855281)1, 2, 9 Lu M.... Deen P.M.T. (1996)
    7. Crystal structure of human aquaporin 4 at 1.8 A and its mechanism of conductance. (PubMed id 19383790)1, 2, 9 Ho J.D....Stroud R.M. (2009)
    8. Molecular analysis of aquaporin genes 1 to 4 in patie nts with MeniA"re's disease. (PubMed id 21063116)1, 4 Candreia C....GA1rtler N. (2010)
    9. Aquaporin-4 Gene Variation and Sudden Infant Death Sy ndrome. (PubMed id 20351659)1, 4 Opdal S.H....Rognum T.O. (2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 361 HGNC: 637 AceView: AQP4 Ensembl:ENSG00000171885 euGenes: HUgn361
    ECgene: AQP4 Kegg: 361 H-InvDB: AQP4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AQP4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AQP4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AQP4 gene:
    Search GeneIP for patents involving AQP4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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