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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

HCOP human homology predictions: AQP2
Protein SuperFamily: aquaporin
Gene Tree: Aqp2

Human
homologs
AQP2, aquaporin 2 (collecting duct)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 359
neXtProt AC: NX_P41181

Human Synonyms: AQP-CD, WCH-CD

Human Chr (Location): 12q12-q13; chr12:49950741-49958881 (+)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Aqp2 (1)    Mutations Annotated to Human Diseases (4)    Phenotype Images(4)
Interactions
Aqp2 interacts with 34 markers (Mir25, Mir32, Mir92-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (56 annotations)
Process actin filament depolymerization, apoptotic process, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function actin binding, glycerol channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (48 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aqp2    NEW 
Molecular
reagents
All nucleic(12) Genomic(3) cDNA(6) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000023013 (Evidence)
Entrez Gene 11827 (Evidence)
DFCI TC1582904
DoTS DT.530080
NIA Mouse Gene Index U067003
Consensus CDS Project CCDS27822.1
International Mouse Phenotyping Consortium Status Aqp2
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(18) RefSeq(2) UniProt(2)
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:217530 Renier N, et al., iDISCO: a simple, rapid method to immunolabel large tissue samples for volume imaging. Cell. 2014 Nov 6;159(4):896-910
All references(110)
Disease annotation references (3)
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
06/23/2015
MGI 5.22
The Jackson Laboratory