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Aqp12 Gene Detail
Summary
  • Symbol
    Aqp12
  • Name
    aquaporin 12
  • Feature Type
    protein coding gene
  • IDs
    MGI:2664636
    NCBI Gene: 208760
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:93006334-93012269 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5936 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 46.72 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    AQP12A, aquaporin 12A
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AQP12A, aquaporin 12A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AQP12, AQP-12, AQPX2
  • Links
    NCBI Gene ID: 375318
    neXtProt AC: NX_Q8IXF9
    UniProt: Q8IXF9

  • Chr Location
    2q37.3; chr2:240691845-240698483 (+)  GRCh38.p7

  • Human Ortholog
    AQP12B, aquaporin 12B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    INSSA3
  • Links
    NCBI Gene ID: 653437
    neXtProt AC: NX_A6NM10
    UniProt: A6NM10

  • Chr Location
    2q37.3; chr2:240676418-240685743 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    8 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.
Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis.
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 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
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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 OTTMUSG00000048635 VEGA Gene Model | MGI Sequence Detail 5936 C57BL/6J ±  kb
    transcript OTTMUST00000124560 VEGA | MGI Sequence Detail 1088 Not Applicable  
    polypeptide OTTMUSP00000067749 VEGA | MGI Sequence Detail 290 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      64 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 2
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 3
      Gene Ontology 3
      Phenotypes 8
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:250201 Tanahashi H, et al., Polyhydramnios in Lrp4 knockout mice with bilateral kidney agenesis: Defects in the pathways of amniotic fluid clearance. Sci Rep. 2016 Feb 5;6:20241

    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
    06/19/2018
    MGI 6.12
    The Jackson Laboratory