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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:15522553-15544039 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 8.74 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    664 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107387
 protein coding gene Chr18:15522451-15544039 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AQP4, aquaporin 4
  • Synonyms
    hAQP4, MIWC, MLC4, WCH4
  • Links
    NCBI Gene ID: 361
    neXtProt AC: NX_P55087
    UniProt: P55087

  • Chr Location
    18q11.2; chr18:26852038-26865803 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aqp4 mouse models; 7 with human AQP4 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
    41 phenotypes from 6 alleles in 9 genetic backgrounds
    5 phenotypes from multigenic genotypes
    191 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
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
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a null allele show decreased urine osmolality, reduced brain edema after water intoxication and stroke, and impaired hearing. Homozygotes for another null allele show female subfertility, impaired folliculogenesis, reduced corpora lutea number and uterine response to gonadotropins.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    60
  • GO References
    26
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1120
  • Tissues
    168
  • cDNA Data
    14
  • Literature Summary
    54
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024411 Ensembl Gene Model | MGI Sequence Detail 21487 C57BL/6J ±  kb
    transcript ENSMUST00000238946 Ensembl | MGI Sequence Detail 4895 Not Applicable  
    polypeptide ENSMUSP00000159185 Ensembl | MGI Sequence Detail 330 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 1
      cDNA 16
      Primer pair 9
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-35854
    References
    more
    • Summaries
      All 333
      Developmental Gene Expression 54
      Diseases 1
      Gene Ontology 26
      Phenotypes 191
    • 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:355142 Gomez-Del Arco P, et al., The G4 resolvase Dhx36 modulates cardiomyocyte differentiation and ventricular conduction system development. Nat Commun. 2024 Oct 4;15(1):8602
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory