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Aqp2 aquaporin 2 [ Mus musculus (house mouse) ]

Gene ID: 11827, updated on 16-Apr-2024

Summary

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Official Symbol
Aqp2provided by MGI
Official Full Name
aquaporin 2provided by MGI
Primary source
MGI:MGI:1096865
See related
Ensembl:ENSMUSG00000023013 AllianceGenome:MGI:1096865
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
cph; jpk; AQP-CD; WCH-CD
Summary
Enables water channel activity. Acts upstream of or within cellular response to water deprivation; metanephric collecting duct development; and renal water transport. Located in several cellular components, including apical plasma membrane; perinuclear region of cytoplasm; and recycling endosome. Is expressed in inner ear; metanephros; vestibulo-cochlear ganglion; and vestibulocochlear nerve cochlear component. Used to study nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in nephrogenic diabetes insipidus. Orthologous to human AQP2 (aquaporin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward kidney adult (RPKM 289.8) See more
Orthologs
human all
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Genomic context

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See Aqp2 in Genome Data Viewer
Location:
15 F1; 15 56.13 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (99476937..99482426)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (99579056..99584545)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene Fas apoptotic inhibitory molecule 2 Neighboring gene predicted gene 5808 Neighboring gene predicted gene, 34765 Neighboring gene STARR-seq mESC enhancer starr_39713 Neighboring gene aquaporin 5 Neighboring gene aquaporin 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Acute pyelonephritis: Increased plasma membrane targeting of renal aquaporin-2. Ernstsen CV, et al. Acta Physiol (Oxf), 2022 Feb. PMID 34978750
  2. Intracellular location of aquaporin-2 serine 269 phosphorylation and dephosphorylation in kidney collecting duct cells. Wong KY, et al. Am J Physiol Renal Physiol, 2020 Oct 1. PMID 32799672
  3. The relationship between Aquaporin-2 protein levels in amniotic fluid and the fetal kidney in humans. Feng J, et al. Biochem Biophys Res Commun, 2018 Nov 30. PMID 30366672
  4. Genome-Wide Mapping of DNA Accessibility and Binding Sites for CREB and C/EBPβ in Vasopressin-Sensitive Collecting Duct Cells. Jung HJ, et al. J Am Soc Nephrol, 2018 May. PMID 29572403, Free PMC Article
  5. Basolateral cholesterol depletion alters Aquaporin-2 post-translational modifications and disrupts apical plasma membrane targeting. Moeller HB, et al. Biochem Biophys Res Commun, 2018 Jan 1. PMID 29103957

See all (222) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pkd2 Deficiency in Embryonic Aqp2 + Progenitor Cells Is Sufficient to Cause Severe Polycystic Kidney Disease.
    Title: Pkd2 Deficiency in Embryonic Aqp2 + Progenitor Cells Is Sufficient to Cause Severe Polycystic Kidney Disease.
  2. Poly(ADP-ribose) polymerase-1 affects vasopressin-mediated AQP2 expression in collecting duct cells of the kidney.
    Title: Poly(ADP-ribose) polymerase-1 affects vasopressin-mediated AQP2 expression in collecting duct cells of the kidney.
  3. Differential regulation of autophagy on urine-concentrating capability through modulating the renal AQP2 expression and renin-angiotensin system in mice.
    Title: Differential regulation of autophagy on urine-concentrating capability through modulating the renal AQP2 expression and renin-angiotensin system in mice.
  4. Genome-Engineered mpkCCDc14 Cells as a New Resource for Studying AQP2.
    Title: Genome-Engineered mpkCCDc14 Cells as a New Resource for Studying AQP2.
  5. TRPML1-Induced Lysosomal Ca[2+] Signals Activate AQP2 Translocation and Water Flux in Renal Collecting Duct Cells.
    Title: TRPML1-Induced Lysosomal Ca(2+) Signals Activate AQP2 Translocation and Water Flux in Renal Collecting Duct Cells.
  6. Uromodulin Regulates Murine Aquaporin-2 Activity via Thick Ascending Limb-Collecting Duct Cross-Talk during Water Deprivation.
    Title: Uromodulin Regulates Murine Aquaporin-2 Activity via Thick Ascending Limb-Collecting Duct Cross-Talk during Water Deprivation.
  7. LRBA is essential for urinary concentration and body water homeostasis.
    Title: LRBA is essential for urinary concentration and body water homeostasis.
  8. Acute pyelonephritis: Increased plasma membrane targeting of renal aquaporin-2.
    Title: Acute pyelonephritis: Increased plasma membrane targeting of renal aquaporin-2.
  9. Pdcd10-Stk24/25 complex controls kidney water reabsorption by regulating Aqp2 membrane targeting.
    Title: Pdcd10-Stk24/25 complex controls kidney water reabsorption by regulating Aqp2 membrane targeting.
  10. Characteristics of aquaporin 1, 3, and 5 expression during early murine salivary gland development.
    Title: Characteristics of aquaporin 1, 3, and 5 expression during early murine salivary gland development.
Submit: New GeneRIF Correction See all GeneRIFs (87)

Phenotypes

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Associated conditions

Description Tests
congenital progressive hydronephrosis
GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (8)  1 citation
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
  
enables actin binding ISO
Inferred from Sequence Orthology
more info
  
enables channel activity IEA
Inferred from Electronic Annotation
more info
  
enables glycerol transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
enables water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables water channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables water channel activity ISO
Inferred from Sequence Orthology
more info
  
enables water transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in actin filament depolymerization ISO
Inferred from Sequence Orthology
more info
  
involved_in actin filament organization ISO
Inferred from Sequence Orthology
more info
  
involved_in cell volume homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to copper ion ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to mercury ion ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cellular response to water deprivation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to water deprivation ISO
Inferred from Sequence Orthology
more info
  
involved_in glycerol transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in metanephric collecting duct development IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in positive regulation of calcium ion transport ISO
Inferred from Sequence Orthology
more info
  
involved_in protein homotetramerization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within renal water homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in renal water homeostasis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within renal water transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within water transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in water transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in clathrin-coated vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome membrane IC
Inferred by Curator
more info
 PubMed 
located_in exocytic vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular exosome ISO
Inferred from Sequence Orthology
more info
  
located_in lumenal side of membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane ISM
Inferred from Sequence Model
more info
 PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IC
Inferred by Curator
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
  
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome membrane IC
Inferred by Curator
more info
 PubMed 
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
aquaporin-2
Names
ADH water channel
AQP-2
aquaporin-CD
collecting duct water channel protein
water channel protein for renal collecting duct

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_009699.3 → NP_033829.3  aquaporin-2

    See identical proteins and their annotated locations for NP_033829.3

    Status: VALIDATED

    Source sequence(s)
    AK142567
    Consensus CDS
    CCDS27822.1
    UniProtKB/Swiss-Prot
    P56402, Q8VCG5, Q9R232
    UniProtKB/TrEMBL
    Q3UQD4
    Related
    ENSMUSP00000023752.5, ENSMUST00000023752.6
    Conserved Domains (1) summary
    pfam00230
    Location:3 → 219
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    99476937..99482426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56402.2 GenPept UniProtKB/Swiss-Prot:P56402

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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