Aqp2 aquaporin 2 [Mus musculus (house mouse)] - Gene

Summary

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

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_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Genome-Engineered mpkCCDc14 Cells as a New Resource for Studying AQP2.
Title: Genome-Engineered mpkCCDc14 Cells as a New Resource for Studying AQP2.
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.
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.
LRBA is essential for urinary concentration and body water homeostasis.
Title: LRBA is essential for urinary concentration and body water homeostasis.
Acute pyelonephritis: Increased plasma membrane targeting of renal aquaporin-2.
Title: Acute pyelonephritis: Increased plasma membrane targeting of renal aquaporin-2.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aqp2 (e-PCR), detects polymorphism
- UniSTS:186491

Aqp2 (e-PCR), detects polymorphism
- UniSTS:209563

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.