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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 Ensembl 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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: AQP4
Protein SuperFamily: aquaporin
Gene Tree: Aqp4

Human
homologs
AQP4, aquaporin 4
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 361
neXtProt AC: NX_P55087

Human Synonyms: HMIWC2, MIWC

Human Chr (Location): 18q11.2-q12.1; chr18:26852043-26865752 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
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 in Mice Using Aqp4 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Aqp4 interacts with 364 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (48 annotations)
Process carbohydrate transmembrane transport, carbon dioxide transport, ...
Component basal plasma membrane, basolateral plasma membrane, ...
Function glycerol channel activity, porin activity, ...
External Resources: FuncBase
Expression
Literature Summary: (25 records)
Data Summary: Results (239)    Tissues (123)    Images (38)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 153
Western blot 14
RT-PCR 72
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA AQP4 ZFIN aqp4    NEW 
Molecular
reagents
All nucleic(19) Genomic(1) cDNA(14) Primer pair(4)
Microarray probesets(7)
Other database
links
Ensembl Gene Model ENSMUSG00000024411 (Evidence)
Entrez Gene 11829 (Evidence)
DFCI TC1580446, TC1596922, TC1599303, TC1647087, TC1668635
DoTS DT.101375194, DT.110783798, DT.110783806, DT.110783808, DT.60100874, DT.87049496, DT.91391996, DT.91439275, DT.94220478, DT.94259625
NIA Mouse Gene Index U038230
Consensus CDS Project CCDS29073.1
International Mouse Phenotyping Consortium Status Aqp4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024411 Ensembl Gene Model | MGI Sequence Detail 14291 C57BL/6J ±  kb
transcript ENSMUST00000079081 Ensembl | MGI Sequence Detail 5082 Not Applicable 
polypeptide ENSMUSP00000078088 Ensembl | MGI Sequence Detail 323 Not Applicable 

For the selected sequences
All sequences(77) RefSeq(18) 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
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:218770 Yao X, et al., Reduced brain edema and infarct volume in aquaporin-4 deficient mice after transient focal cerebral ischemia. Neurosci Lett. 2015 Jan 1;584:368-72
All references(159)
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
08/18/2015
MGI 6.0
The Jackson Laboratory