AQP2 aquaporin 2 (collecting duct) [Homo sapiens] - Gene

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Summary

Official Symbol: AQP2provided by HGNC
Official Full Name: aquaporin 2 (collecting duct)provided by HGNC
Primary source: HGNC:634
See related: Ensembl:ENSG00000167580; HPRD:00141; MIM:107777; Vega:OTTHUMG00000169709
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AQP-CD; WCH-CD; MGC34501
Summary: This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]

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Genomic context

Location :: 12q12-q13

Sequence :: Chromosome: 12; NC_000012.11 (50344524..50352664)

See AQP2 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

AQP2 mediates E(2)-enhanced migration, invasion, and adhesion through alteration of F-actin and annexin-2 expression and reorganization of F-actin, and inhibition of AQP may be a potential method for antitumor therapy.
Title: Identification of estrogen response element in the aquaporin-2 gene that mediates estrogen-induced cell migration and invasion in human endometrial carcinoma.
Our findings would support the involvement of vasopressin-AQP2 axis, interacting with the renin-angiotensin system, in the progression of immunoglobulin A nephropathy and candidate AQP2 as a possible novel marker of the disease
Title: Altered urinary excretion of aquaporin 2 in IgA nephropathy.
Expression patterns of aquaporin 1, 3, and 5 in lung cancer cells are mostly associated with cellular differentiation.
Title: Relationship of aquaporin 1, 3, and 5 expression in lung cancer cells to cellular differentiation, invasive growth, and metastasis potential.
The marked early rise in expression of AQP2 and AQP3 suggests a role during the process leading to follicular rupture.
Title: The water permeability channels aquaporins 1-4 are differentially expressed in granulosa and theca cells of the preovulatory follicle during precise stages of human ovulation.
After sequencing analysis of the coding regions and exon-intron boundaries one single variation, no significant mutation in AQP 2 was found.
Title: Molecular analysis of aquaporin genes 1 to 4 in patients with Menière's disease.
endosomal trapping of AQP2 in the endolymphatic sac, might be important as a basis of Meniere's disease
Title: Expression and translocation of aquaporin-2 in the endolymphatic sac in patients with Meniere's disease.
Elevation of cAMP increased AQP2 protein levels within 30 minutes in human embryonic kidney 293 cells.
Title: Reciprocal regulation of aquaporin-2 abundance and degradation by protein kinase A and p38-MAP kinase.
Report two new AQP2 mutations displaying high levels of functional expression for mutant forms with adequate plasma membrane targeting in oocytes but not in mIMCD-3 cells where they are restrained within internal stores.
Title: New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
We conclude that ibuprofen-induced oligo-anuria is not associated with a change in AQP2 activity and that ibuprofen does not affect AQP2 activity during the first month of life in very preterm neonates.
Title: The renal adverse effects of ibuprofen are not mediated by AQP2 water channels.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

Submit: New GeneRIF Correction See all (65)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Diabetes insipidus, nephrogenic

MIM: 125800

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Products	Interactant	Other Gene	Source	Pubs	Description
P41181	P41181	AQP2	HPRD	PubMed
BioGRID:106855	BioGRID:538545	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106855	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
PDZ domain binding	IEA Inferred from Electronic Annotation more info
actin binding	IEA Inferred from Electronic Annotation more info
glycerol transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
transporter activity	IEA Inferred from Electronic Annotation more info
water channel activity	EXP Inferred from Experiment more info
water transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
actin filament depolymerization	IEA Inferred from Electronic Annotation more info
aging	IEA Inferred from Electronic Annotation more info
apoptotic process	IEA Inferred from Electronic Annotation more info
cell volume homeostasis	IEA Inferred from Electronic Annotation more info
cellular response to copper ion	IDA Inferred from Direct Assay more info	PubMed
cellular response to mercury ion	IDA Inferred from Direct Assay more info	PubMed
cellular response to water deprivation	IEA Inferred from Electronic Annotation more info
excretion	TAS Traceable Author Statement more info	PubMed
female pregnancy	IEA Inferred from Electronic Annotation more info
glycerol transport	IDA Inferred from Direct Assay more info	PubMed
hyperosmotic response	IEA Inferred from Electronic Annotation more info
metanephric collecting duct development	IEA Inferred from Electronic Annotation more info
positive regulation of calcium ion transport	IEA Inferred from Electronic Annotation more info
renal water transport	IEA Inferred from Electronic Annotation more info
response to calcium ion	IEA Inferred from Electronic Annotation more info
response to glucagon stimulus	IEA Inferred from Electronic Annotation more info
response to hormone stimulus	IEA Inferred from Electronic Annotation more info
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
response to lithium ion	IEA Inferred from Electronic Annotation more info
response to salt stress	IEA Inferred from Electronic Annotation more info
response to starvation	IEA Inferred from Electronic Annotation more info
transmembrane transport	TAS Traceable Author Statement more info
water transport	IDA Inferred from Direct Assay more info	PubMed
water transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
cell fraction	IEA Inferred from Electronic Annotation more info
clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
early endosome	IEA Inferred from Electronic Annotation more info
exocytic vesicle	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
lysosome	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
protein complex	IEA Inferred from Electronic Annotation more info
recycling endosome	IEA Inferred from Electronic Annotation more info
rough endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
trans-Golgi network	IEA Inferred from Electronic Annotation more info
transport vesicle membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: aquaporin-2

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

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_008913.1 RefSeqGene

Range

5001..13141

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000486.5 → NP_000477.1 aquaporin-2

Status: REVIEWED

Source sequence(s)

AC025154, AI792401, AK225940, BC042496

Consensus CDS

CCDS8792.1

UniProtKB/Swiss-Prot

P41181

Related

ENSP00000199280, OTTHUMP00000241926, ENST00000199280, OTTHUMT00000405540

Conserved Domains (1) summary

cd00333
Location:11 – 222
Blast Score: 473

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

50344524..50352664

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

47376094..47384234

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC025154.31 (3134..11269)	None
genomic	AC067739.37	None
genomic	AF147093.2	AAD38692.1
genomic	CH471111.1	EAW58109.1
genomic	D31846.1	BAA06632.1
genomic	Z29491.1	CAA82627.1
mRNA	AI792401.1	None
mRNA	AK055824.1	None
mRNA	AK225940.1	None
mRNA	BC042496.1	AAH42496.1
mRNA	CR542024.1	CAG46821.1
mRNA	S73196.1	AAB31999.1
mRNA	S73197.1	AAB31998.1