InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: AQP2

Summary

InnateDB Gene

IDBG-32089.6

Last Modified

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

Gene Symbol

AQP2

Gene Name

aquaporin 2 (collecting duct)

Synonyms

AQP-CD; WCH-CD

Species

Homo sapiens

Ensembl Gene

ENSG00000167580

Encoded Proteins

IDBP-32091

aquaporin 2 (collecting duct)

IDBP-597646

aquaporin 2 (collecting duct)

IDBP-587327

aquaporin 2 (collecting duct)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:49950741-49958881

Strand

Forward strand

Band

q13.12

Transcripts

ENST00000199280	ENSP00000199280
ENST00000551526	ENSP00000447148
ENST00000550862	ENSP00000450022

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000023013

View Gene Order

ENSBTAG00000008374

Not yet available

Pathways

NETPATH

REACTOME

REACT_23826

Passive transport by Aquaporins pathway

REACT_24023

Vasopressin regulates renal water homeostasis via Aquaporins pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_23887

Aquaporin-mediated transport pathway

KEGG

hsa04962

Vasopressin-regulated water reabsorption pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.130730 Hs.617642

RefSeq

NM_000486

HUGO

OMIM

CCDS

CCDS8792

HPRD

00141

IMGT

EMBL

GenPept

RNA Seq Atlas