AQP2 aquaporin 2 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: AQP2provided by VGNC
Official Full Name: aquaporin 2provided by VGNC
Primary source: VGNC:VGNC:38017
See related: Ensembl:ENSCAFG00845018399
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Also known as: AQP-2; AQP-CD; WCH-CD
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 27

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	27	NC_051831.1 (4793697..4801488, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	27	NC_006609.4 (41505816..41513596)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	27	NC_049248.1 (41900444..41908227)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	27	NC_049287.1 (4758676..4766460, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	27	NC_049768.1 (4748491..4756279, complement)

Chromosome 27 - NC_051831.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Quantitative image mean squared displacement (iMSD) analysis of the dynamics of Aquaporin 2 within the membrane of live cells.
Title: Quantitative image mean squared displacement (iMSD) analysis of the dynamics of Aquaporin 2 within the membrane of live cells.
The data suggest that the L137P mutation results in altered AQP2 protein maturation, increased AQP2 degradation via the proteasomal pathway and limited plasma membrane expression.
Title: Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.
Thus, AQP2 with two to four phosphorylated monomers has faster plasma membrane kinetics, than the tetramer which contains just one or no phosphorylated monomers. This difference in diffusion rate may reflect behavior of AQP2 tetramers destined for either plasma membrane retention or endocytosis
Title: AQP2 Plasma Membrane Diffusion Is Altered by the Degree of AQP2-S256 Phosphorylation.
we have established a 3D culture model for the study of trafficking and regulation of both the apical and basolaterally targeted AQP2. The new model will enable further characterization of the complex mechanism regulating bi-polarized trafficking of AQP2
Title: Polarized Trafficking of AQP2 Revealed in Three Dimensional Epithelial Culture.
Aquaporin 2 promotes cell migration and epithelial morphogenesis.
Title: Aquaporin 2 promotes cell migration and epithelial morphogenesis.
Membrane localization of AQP2 is determined by the balance of extents of AQP2 phosphorylation and ubiquitination in Madin-Darby canine kidney (MDCK) cells.
Title: Regulation of AQP2 localization by S256 and S261 phosphorylation and ubiquitination.
Dynamic interactions between AQP2 and the actin cytoskeleton are critical for initiating AQP2 apical targeting.[Tropomyosin 5b]
Title: Reciprocal interaction with G-actin and tropomyosin is essential for aquaporin-2 trafficking.
AQP2 expression was found in the rete testis, efferent ducts and epididymis
Title: Immunolocalization of aquaporins 1, 2 and 7 in rete testis, efferent ducts, epididymis and vas deferens of adult dog.
loss of the E258 in AQP2-E258K is fundamental to its missorting to multivesicular bodies
Title: Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
multivesicular bodies sorting, and degradation of AQP2 and may be the mechanism used by -vasopressin removal and PKC-activating hormones to reduce renal water reabsorption
Title: Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables water channel activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: aquaporin-2

Names: ADH water channel; 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.