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Aqp3 Gene Detail
Summary
  • Symbol
    Aqp3
  • Name
    aquaporin 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333777
    NCBI Gene: 11828
  • Gene Overview
    MyGene.info: AQP3
Location & Maps
more
  • Sequence Map
    Chr4:41092722-41098183 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5462 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 20.94 cM, cytoband B1
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    AQP3, aquaporin 3 (Gill blood group)
  • Vertebrate Orthologs
    11
  • Human Ortholog
    AQP3, aquaporin 3 (Gill blood group)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AQP-3, GIL
  • Links
    NCBI Gene ID: 360
    neXtProt AC: NX_Q92482

  • Chr Location
    9p13; chr9:33441154-33447633 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 21025
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: AQP3
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Aqp3 mouse models

Human Disease Mouse Models
       Diabetes Insipidus, Nephrogenic, Autosomal   OMIM: 125800 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
    21 phenotypes from 3 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    36 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.
  • All Mutations and Alleles
    22
  • Chemically and radiation induced
    1
  • Chemically induced (ENU)
    1
  • Gene trapped
    14
  • Targeted
    6
  • Genomic Mutations
    1 involving Aqp3
  • Incidental Mutations
Animals homozygous for a mutation in this gene display increased drinking behavior, increased urination, and decreased urine osmolality.
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
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006621 VEGA Gene Model | MGI Sequence Detail 5462 C57BL/6J ±  kb
transcript OTTMUST00000015099 VEGA | MGI Sequence Detail 1765 Not Applicable  
polypeptide OTTMUSP00000006982 VEGA | MGI Sequence Detail 292 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    6 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 17
    cDNA 14
    Primer pair 3

    Microarray probesets 5
References
more
  • Summaries
    All 88
    Developmental Gene Expression 19
    Diseases 1
    Gene Ontology 16
    Phenotypes 36
  • Earliest
    J:42704 Ma T, et al., Generation and phenotype of a transgenic knockout mouse lacking the mercurial-insensitive water channel aquaporin-4. J Clin Invest. 1997 Sep 1;100(5):957-62
  • Latest
    J:223017 Hara-Chikuma M, et al., Aquaporin-3-mediated hydrogen peroxide transport is required for NF-kappaB signalling in keratinocytes and development of psoriasis. Nat Commun. 2015;6:7454

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
07/12/2016
MGI 6.04
The Jackson Laboratory