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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
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:15389394-15403684 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 8.74 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    81 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107387
protein coding gene Chr18:15389394-15410982 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024172
protein coding gene Chr18:12713665-12729028 (-)
A/J MGP_AJ_G0024134
protein coding gene Chr18:12433281-12447527 (-)
AKR/J MGP_AKRJ_G0024101
protein coding gene Chr18:12853707-12872710 (-)
BALB/cJ MGP_BALBcJ_G0024133
protein coding gene Chr18:12386686-12401317 (-)
C3H/HeJ MGP_C3HHeJ_G0023900
protein coding gene Chr18:12702441-12716694 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024578
protein coding gene Chr18:13313014-13329033 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022018
protein coding gene Chr18:11916963-11931236 (-)
CAST/EiJ MGP_CASTEiJ_G0023377
protein coding gene Chr18:12602924-12618681 (-)
CBA/J MGP_CBAJ_G0023872
protein coding gene Chr18:13569819-13588864 (-)
DBA/2J MGP_DBA2J_G0024001
protein coding gene Chr18:12259411-12273676 (-)
FVB/NJ MGP_FVBNJ_G0023966
protein coding gene Chr18:12095363-12109563 (-)
LP/J MGP_LPJ_G0024084
protein coding gene Chr18:12823236-12837500 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023995
protein coding gene Chr18:13633186-13647605 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024624
protein coding gene Chr18:12578251-12598289 (-)
PWK/PhJ MGP_PWKPhJ_G0023123
protein coding gene Chr18:12369510-12384187 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022932
protein coding gene Chr18:12862079-12876195 (-)
WSB/EiJ MGP_WSBEiJ_G0023443
protein coding gene Chr18:12553625-12571177 (-)



Homology
more
  • Human Ortholog
    AQP4, aquaporin 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AQP4, aquaporin 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MIWC, WCH4
  • Links
    NCBI Gene ID: 361
    neXtProt AC: NX_P55087
    UniProt: P55087

  • Chr Location
    18q11.2; chr18:26852038-26865844 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 37507
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: AQP4
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Aqp4 mouse models

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    30 phenotypes from 5 alleles in 7 genetic backgrounds
    5 phenotypes from multigenic genotypes
    93 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      Genomic 1
      cDNA 15
      Primer pair 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-35854
    References
    more
    • Summaries
      All 190
      Developmental Gene Expression 32
      Diseases 1
      Gene Ontology 19
      Phenotypes 93
    • 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:256855 Smith AJ, et al., Test of the 'glymphatic' hypothesis demonstrates diffusive and aquaporin-4-independent solute transport in rodent brain parenchyma. Elife. 2017 Aug 21;6

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory