InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AQP2

Summary

InnateDB Protein

IDBP-32091.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AQP2

Protein Name

aquaporin 2 (collecting duct)

Synonyms

AQP-CD; WCH-CD;

Species

Homo sapiens

Ensembl Protein

ENSP00000199280

InnateDB Gene

IDBG-32089 (AQP2)

Protein Structure

UniProt Annotation

Function

Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.

Subcellular Localization

Apical cell membrane {ECO:0000269PubMed:12194985}; Multi-pass membrane protein {ECO:0000269PubMed:12194985}. Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269PubMed:12194985}; Multi- pass membrane protein {ECO:0000269PubMed:12194985}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269PubMed:12194985}; Multi-pass membrane protein {ECO:0000269PubMed:12194985}. Note=Shuttles from vesicles to the apical membrane. Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane. PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated.

Disease Associations

Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. {ECO:0000269PubMed:12050236, ECO:0000269PubMed:12191971, ECO:0000269PubMed:15509592, ECO:0000269PubMed:16120822, ECO:0000269PubMed:16361827, ECO:0000269PubMed:16845277, ECO:0000269PubMed:19585583, ECO:0000269PubMed:7524315, ECO:0000269PubMed:8882880, ECO:0000269PubMed:9048343, ECO:0000269PubMed:9302264, ECO:0000269PubMed:9402087, ECO:0000269PubMed:9550615, ECO:0000269PubMed:9649557, ECO:0000269PubMed:9745427}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in renal collecting tubules.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005215	transporter activity
GO:0005372	water transmembrane transporter activity
GO:0005515	protein binding
GO:0015168	glycerol transmembrane transporter activity
GO:0015250	water channel activity
GO:0030165	PDZ domain binding

Biological Process

GO:0003097	renal water transport
GO:0006810	transport
GO:0006833	water transport
GO:0006884	cell volume homeostasis
GO:0006915	apoptotic process
GO:0006972	hyperosmotic response
GO:0007565	female pregnancy
GO:0007568	aging
GO:0007588	excretion
GO:0009414	response to water deprivation
GO:0009651	response to salt stress
GO:0009725	response to hormone
GO:0010226	response to lithium ion
GO:0015793	glycerol transport
GO:0030042	actin filament depolymerization
GO:0032496	response to lipopolysaccharide
GO:0033762	response to glucagon
GO:0042594	response to starvation
GO:0042631	cellular response to water deprivation
GO:0051592	response to calcium ion
GO:0051928	positive regulation of calcium ion transport
GO:0055085	transmembrane transport
GO:0071280	cellular response to copper ion
GO:0071288	cellular response to mercury ion
GO:0072205	metanephric collecting duct development

Cellular Component

GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005769	early endosome
GO:0005791	rough endoplasmic reticulum
GO:0005802	trans-Golgi network
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0030133	transport vesicle
GO:0030136	clathrin-coated vesicle
GO:0030658	transport vesicle membrane
GO:0031410	cytoplasmic vesicle
GO:0043234	protein complex
GO:0055037	recycling endosome
GO:0070062	extracellular vesicular exosome
GO:0070382	exocytic vesicle