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

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; chr12:50344524-50352664 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human AQP2

Alleles and phenotypes

All alleles(12) : Targeted(9) Gene trapped(1) Spontaneous(1) Chemically induced(1)
 

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)

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: (42 records)
Data Summary: Results (82)    Tissues (59)    Images (5)
Theiler Stages: 2, 3, 4, 5, 16, 20, 21, 23, 25, 26, 28

Assay Type	Results
Immunohistochemistry	55
Western blot	2
RT-PCR	25

cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Aqp2

Sequences

Length	Strain/Species
genomic	11827	NCBI Gene Model | MGI Sequence Detail	5490	C57BL/6J
transcript	NM_009699	RefSeq | MGI Sequence Detail	1416	C57BL/6
polypeptide	P56402	UniProt | EBI | MGI Sequence Detail	271	Not Applicable

All sequences(18) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(19 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194346 Guo LJ, et al., ENaC is regulated by natriuretic peptide receptor-dependent cGMP signaling. Am J Physiol Renal Physiol. 2013 Apr;304(7):F930-7
All references(102)

Other accession IDs

MGD-MRK-11531, MGD-MRK-2105, MGI:88481