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Aqp4 Gene Detail
Summary
  • Symbol
    Aqp4
  • Name
    aquaporin 4
  • Synonyms
    aquaporin-4
  • Feature Type
    protein coding gene
  • IDs
    MGI:107387
    NCBI Gene: 11829
  • Gene Overview
    MyGene.info: AQP4
Location & Maps
more
  • Sequence Map
    Chr18:15389394-15403684 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14291 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AQP4, aquaporin 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AQP4, aquaporin 4
    Orthology source: HomoloGene
  • Synonyms
    MIWC, WCH4
  • Links
    NCBI Gene ID: 361
    neXtProt AC: NX_P55087

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

  • HomoloGene
    Vertebrate Homology Class 37507
    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
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Aqp4 mouse models

Human Disease Mouse Models
       Malaria, Susceptibility to   OMIM: 611162 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 5 alleles in 7 genetic backgrounds
    5 phenotypes from multigenic genotypes
    85 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
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, aswell as significant hearing impairment.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    81 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • InterPro Domains
    IPR023271 Aquaporin-like
    IPR000425 Major intrinsic protein
    IPR022357 Major intrinsic protein, conserved site
Molecular
Reagents
less
  • All nucleic 19
    Genomic 1
    cDNA 14
    Primer pair 4

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-35854
References
more
  • Summaries
    All 158
    Developmental Gene Expression 25
    Diseases 1
    Gene Ontology 18
    Phenotypes 85
  • 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:226470 Jo AO, et al., TRPV4 and AQP4 Channels Synergistically Regulate Cell Volume and Calcium Homeostasis in Retinal Muller Glia. J Neurosci. 2015 Sep 30;35(39):13525-37

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
05/17/2016
MGI 6.03
The Jackson Laboratory