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Aqp2
Gene Detail
Symbol

Name
ID
Aqp2
aquaporin 2
MGI:1096865
Feature Type
protein coding gene
Genetic Map
Chromosome 15
56.13 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr15:99579056-99584545 bp, + strand
From NCBI annotation of GRCm38

  5490 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20137  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: aquaporin
Gene Tree: Aqp2

Human
homologs
Human Homolog AQP2, aquaporin 2 (collecting duct)
NCBI Gene ID 359
neXtProt AC  NX_P41181
Human Synonyms  AQP-CD, WCH-CD
Human Chr (Location)  12q12-q13; chr12:49950741-49958881 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human AQP2
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Chemically induced (ENU)(1) Gene trapped(1) Radiation induced(1) Spontaneous(1) Targeted(9)
Genomic Mutations involving Aqp2 (1)
Incidental mutations (data from APF )
 
Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.
 
Human Diseases Modeled Using Mouse Aqp2 (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(2)
Interactions
Aqp2 interacts with 34 markers (Mir25, Mir32, Mir92-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process actin filament depolymerization, apoptotic process, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function actin binding, glycerol transmembrane transporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (43 records)
Data Summary: Results (107)    Tissues (73)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 55
RNA in situ 36
Western blot 2
RT-PCR 14
cDNA source data(6)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) Genomic(3) cDNA(6) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000023013 (Evidence)
Entrez Gene11827 (Evidence)
DFCITC1582904
DoTSDT.530080
NIA Mouse Gene IndexU067003
Consensus CDS ProjectCCDS27822.1
International Mouse Knockout Project StatusAqp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 11827 NCBI Gene Model | MGI Sequence Detail 5490 C57BL/6J ±  kb
transcript NM_009699 RefSeq | MGI Sequence Detail 1416 C57BL/6 
polypeptide P56402 UniProt | EBI | MGI Sequence Detail 271 Not Applicable 

For the selected sequences
All sequences(19) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(25 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR023271 Aquaporin-like
InterPro IPR000425 Major intrinsic protein
InterPro IPR022357 Major intrinsic protein, conserved site
Protein Ontology PR:000004182 aquaporin-2
Graphical View of Protein Domain Structure
References
(Earliest) J:13746 Fox S, et al., Juvenile polycystic kidneys - jpk. Mouse News Lett. 1978;58:47
(Latest) J:206750 Whiteman EL, et al., Crumbs3 is essential for proper epithelial development and viability. Mol Cell Biol. 2014 Jan;34(1):43-56
All references(106)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-11531, MGD-MRK-2105, MGI:88481

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
11/18/2014
MGI 5.20
The Jackson Laboratory