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Aqp4
Gene Detail
 Symbol
Name
ID
Aqp4
aquaporin 4
MGI:107387
Synonyms aquaporin-4
Feature Type protein coding gene
Genetic Map
Chromosome 18
8.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:15389394-15403684 bp, - strand
From NCBI annotation of GRCm38

  14291 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37507  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: aquaporin
Gene Tree: Aqp4

Human
homologs
Human Homolog AQP4, aquaporin 4
NCBI Gene ID 361
neXtProt AC  NX_P55087
Human Synonyms  HMIWC2, MIWC
Human Chr (Location)  18q11.2-q12.1; chr18:26852043-26865752 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted mutation exhibit decreased urine osmolality associated with reduced water permeability in inner medullary collecting ducts, increased survival rates and reduced brain edema after acute water intoxication and ischemic stroke, as well as significant hearing impairment.
 
Human Diseases Modeled Using Mouse Aqp4 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Aqp4 interacts with 365 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (43 annotations)
Process carbon dioxide transport, cellular response to glucose stimulus, ...
Component basal plasma membrane, basolateral plasma membrane, ...
Function porin activity, transporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (25 records)
Data Summary: Results (239)    Tissues (123)    Images (38)
Theiler Stages: 2, 3, 4, 5, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 153
Western blot 14
RT-PCR 72
cDNA source data(60)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(67) Genomic(1) cDNA(62) Primer pair(4)
Microarray probesets(7)
Other database
links
Ensembl Gene ModelENSMUSG00000024411 (Evidence)
Entrez Gene11829 (Evidence)
UniGene250786
DFCITC1580446, TC1596922, TC1599303, TC1647087, TC1668635
DoTSDT.101375194, DT.110783798, DT.110783806, DT.110783808, DT.60100874, DT.87049496, DT.91391996, DT.91439275, DT.94220478, DT.94259625
NIA Mouse Gene IndexU038230
Consensus CDS ProjectCCDS29073.1
International Mouse Knockout Project StatusAqp4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 11829 NCBI Gene Model | MGI Sequence Detail 14291 C57BL/6J ±  kb
transcript NM_009700 RefSeq | MGI Sequence Detail 5082 Not Specified 
polypeptide P55088 UniProt | EBI | MGI Sequence Detail 323 Not Applicable 

For the selected sequences
All sequences(52) RefSeq(4) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(81 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR023271 Aquaporin-like
InterPro IPR000425 Major intrinsic protein
InterPro IPR022357 Major intrinsic protein, conserved site
Protein Ontology PR:000004184 aquaporin-4
Graphical View of Protein Domain Structure
References (Earliest) J:32891 Ma T, et al., Gene structure, cDNA cloning, and expression of a mouse mercurial-insensitive water channel. Genomics. 1996 May 1;33(3):382-8
(Latest) J:210694 Rama Rao KV, et al., Aquaporin-4 deletion in mice reduces encephalopathy and brain edema in experimental acute liver failure. Neurobiol Dis. 2014 Mar;63:222-8
All references(153)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-35854

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory