HUMAN:AQP2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	AQP2
Protein Name(s)	Aquaporin-2 AQP-2 ADH water channel Aquaporin-CD AQP-CD Collecting duct water channel protein WCH-CD Water channel protein for renal collecting duct
External Links
UniProt	P41181
EMBL	Z29491 D31846 S73196 S73197 AF147093 AF147092 BC042496
CCDS	CCDS8792.1
PIR	A53442 I64818
RefSeq	NP_000477.1
UniGene	Hs.130730
PDB	4NEF 4OJ2
PDBsum	4NEF 4OJ2
ProteinModelPortal	P41181
SMR	P41181
BioGrid	106855
STRING	9606.ENSP00000199280
GuidetoPHARMACOLOGY	689
TCDB	1.A.8.8.8
PhosphoSite	P41181
DMDM	728874
PaxDb	P41181
PRIDE	P41181
DNASU	359
Ensembl	ENST00000199280
GeneID	359
KEGG	hsa:359
UCSC	uc001rvn.3
CTD	359
GeneCards	GC12P050400
GeneReviews	AQP2
HGNC	HGNC:634
HPA	HPA046834
MIM	107777 125800
neXtProt	NX_P41181
Orphanet	223
PharmGKB	PA24920
eggNOG	COG0580
GeneTree	ENSGT00760000119223
HOGENOM	HOG000288286
HOVERGEN	HBG000312
InParanoid	P41181
KO	K09865
OMA	PAKSWSE
PhylomeDB	P41181
TreeFam	TF312940
Reactome	REACT_23826 REACT_24023
GeneWiki	Aquaporin_2
GenomeRNAi	359
NextBio	1501
PRO	PR:P41181
Proteomes	UP000005640
Bgee	P41181
CleanEx	HS_AQP2
ExpressionAtlas	P41181
Genevestigator	P41181
GO	GO:0016324 GO:0016323 GO:0030136 GO:0005769 GO:0070382 GO:0070062 GO:0016021 GO:0005764 GO:0016020 GO:0005886 GO:0043234 GO:0055037 GO:0005791 GO:0005802 GO:0030658 GO:0015168 GO:0015250 GO:0005372 GO:0030042 GO:0007568 GO:0006915 GO:0006884 GO:0071280 GO:0071288 GO:0042631 GO:0007588 GO:0007565 GO:0015793 GO:0006972 GO:0072205 GO:0051928 GO:0003097 GO:0051592 GO:0033762 GO:0032496 GO:0010226 GO:0009651 GO:0042594 GO:0055085 GO:0006833
Gene3D	1.20.1080.10
InterPro	IPR023271 IPR000425 IPR022357
PANTHER	PTHR19139
Pfam	PF00230
PRINTS	PR00783
SUPFAM	SSF81338
TIGRFAMs	TIGR00861
PROSITE	PS00221

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
part_of	GO:0005887	integral component of plasma membrane	PMID:24733887^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0051289	protein homotetramerization	PMID:24733887^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:15509592^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:8140421^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006833	water transport	PMID:8140421^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0015250	water channel activity	PMID:8140421^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0003091	renal water homeostasis	PMID:8140421^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:23533145^[4]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:16501490^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:15326289^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
involved_in	GO:0071288	cellular response to mercury ion	PMID:8584435^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071280	cellular response to copper ion	PMID:8584435^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:16928804^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P34080	C		Seeded From UniProt	complete
involved_in	GO:0015793	glycerol transport	PMID:8584435^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0015168	glycerol transmembrane transporter activity	PMID:8584435^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006833	water transport	PMID:9321919^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006833	water transport	PMID:8584435^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:9321919^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005372	water transmembrane transporter activity	PMID:9321919^[10]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005372	water transmembrane transporter activity	PMID:8584435^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:106215 MGI:MGI:1096865 PANTHER:PTN000440694 RGD:2142 RGD:2144 UniProtKB:P41181 UniProtKB:P55064	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG13270 FB:FBgn0000180 FB:FBgn0015872 MGI:MGI:103201 PANTHER:PTN000440616 RGD:2143 UniProtKB:P06624	C		Seeded From UniProt	complete
enables	GO:0015250	water channel activity	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG13270 FB:FBgn0015872 MGI:MGI:107387 MGI:MGI:1096865 MGI:MGI:96990 PANTHER:PTN000440616 RGD:2141 RGD:2143 RGD:3090 UniProtKB:P06624 UniProtKB:P29972 UniProtKB:P30301 UniProtKB:P41181 UniProtKB:P55064 UniProtKB:P55087 UniProtKB:Q5A1Z4 ZFIN:ZDB-GENE-030131-7764 ZFIN:ZDB-GENE-040801-41	F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG13270 FB:FBgn0000180 MGI:MGI:103201 MGI:MGI:106215 MGI:MGI:107387 MGI:MGI:1096865 MGI:MGI:96990 PANTHER:PTN000440616 RGD:2141 RGD:2142 RGD:2143 RGD:2144 RGD:3090 UniProtKB:K7N7A8 UniProtKB:P06624 UniProtKB:P29972 UniProtKB:P30301 UniProtKB:P41181 UniProtKB:P55064 UniProtKB:P55087 UniProtKB:Q5A1Z4	C		Seeded From UniProt	complete
enables	GO:0015250	water channel activity	PMID:9829975^[12]	ECO:0000269	experimental evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0015250	water channel activity	PMID:11076974^[13]	ECO:0000269	experimental evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:22375059^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0072205	metanephric collecting duct development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	P		Seeded From UniProt	complete
part_of	GO:0055037	recycling endosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	C		Seeded From UniProt	complete
involved_in	GO:0042631	cellular response to water deprivation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	P		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	C		Seeded From UniProt	complete
enables	GO:0015250	water channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	F		Seeded From UniProt	complete
involved_in	GO:0006833	water transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	C		Seeded From UniProt	complete
involved_in	GO:0003097	renal water transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56402 ensembl:ENSMUSP00000023752	P		Seeded From UniProt	complete
enables	GO:0015267	channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000425	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000425	C		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000425	P		Seeded From UniProt	complete
part_of	GO:0030658	transport vesicle membrane	Reactome:R-HSA-432237 Reactome:R-HSA-432232	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006833	water transport	Reactome:R-HSA-432047	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-507870 Reactome:R-HSA-507868 Reactome:R-HSA-432237 Reactome:R-HSA-432065	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0003091	renal water homeostasis	Reactome:R-HSA-432040	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0333 UniProtKB-SubCell:SL-0132	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0968	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003	C		Seeded From UniProt	complete
part_of	GO:0016323	basolateral plasma membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0026	C		Seeded From UniProt	complete
part_of	GO:0030659	cytoplasmic vesicle membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0089	C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0015	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Frick, A et al. (2014) X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking. Proc. Natl. Acad. Sci. U.S.A. 111 6305-10 PubMed GONUTS page
↑ de Mattia, F et al. (2004) A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. Hum. Mol. Genet. 13 3045-56 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Deen, PM et al. (1994) Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264 92-5 PubMed GONUTS page
↑ Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
↑ Zhou, H et al. (2006) Collection, storage, preservation, and normalization of human urinary exosomes for biomarker discovery. Kidney Int. 69 1471-6 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ Pisitkun, T et al. (2004) Identification and proteomic profiling of exosomes in human urine. Proc. Natl. Acad. Sci. U.S.A. 101 13368-73 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 ^8.4 ^8.5 Abrami, L et al. (1996) Glycerol permeability of mutant aquaporin 1 and other AQP-MIP proteins: inhibition studies. Pflugers Arch. 431 408-14 PubMed GONUTS page
↑ Han, KH et al. (2006) Expression of the ammonia transporter, rh C glycoprotein, in normal and neoplastic human kidney. J. Am. Soc. Nephrol. 17 2670-9 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 Mulders, SM et al. (1997) Importance of the mercury-sensitive cysteine on function and routing of AQP1 and AQP2 in oocytes. Am. J. Physiol. 273 F451-6 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Meinild, AK et al. (1998) Bidirectional water fluxes and specificity for small hydrophilic molecules in aquaporins 0-5. J. Biol. Chem. 273 32446-51 PubMed GONUTS page
↑ Kamsteeg, EJ et al. (2000) The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. J. Cell Biol. 151 919-30 PubMed GONUTS page
↑ Lang, S et al. (2012) Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells. J. Cell. Sci. 125 1958-69 PubMed GONUTS page

[PMID:24733887-1] 1.0 ^1.1 Frick, A et al. (2014) X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking. Proc. Natl. Acad. Sci. U.S.A. 111 6305-10 PubMed GONUTS page

[PMID:15509592-2] Mattia, F et al. (2004) A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. Hum. Mol. Genet. 13 3045-56 PubMed GONUTS page

[PMID:8140421-3] 3.0 ^3.1 ^3.2 ^3.3 Deen, PM et al. (1994) Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264 92-5 PubMed GONUTS page

[PMID:23533145-4] Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page

[PMID:16501490-5] Zhou, H et al. (2006) Collection, storage, preservation, and normalization of human urinary exosomes for biomarker discovery. Kidney Int. 69 1471-6 PubMed GONUTS page

[PMID:19056867-6] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:15326289-7] Pisitkun, T et al. (2004) Identification and proteomic profiling of exosomes in human urine. Proc. Natl. Acad. Sci. U.S.A. 101 13368-73 PubMed GONUTS page

[PMID:8584435-8] 8.0 ^8.1 ^8.2 ^8.3 ^8.4 ^8.5 Abrami, L et al. (1996) Glycerol permeability of mutant aquaporin 1 and other AQP-MIP proteins: inhibition studies. Pflugers Arch. 431 408-14 PubMed GONUTS page

[PMID:16928804-9] Han, KH et al. (2006) Expression of the ammonia transporter, rh C glycoprotein, in normal and neoplastic human kidney. J. Am. Soc. Nephrol. 17 2670-9 PubMed GONUTS page

[PMID:9321919-10] 10.0 ^10.1 ^10.2 Mulders, SM et al. (1997) Importance of the mercury-sensitive cysteine on function and routing of AQP1 and AQP2 in oocytes. Am. J. Physiol. 273 F451-6 PubMed GONUTS page

[PMID:21873635-11] 11.0 ^11.1 ^11.2 ^11.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9829975-12] Meinild, AK et al. (1998) Bidirectional water fluxes and specificity for small hydrophilic molecules in aquaporins 0-5. J. Biol. Chem. 273 32446-51 PubMed GONUTS page

[PMID:11076974-13] Kamsteeg, EJ et al. (2000) The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. J. Cell Biol. 151 919-30 PubMed GONUTS page

[PMID:22375059-14] Lang, S et al. (2012) Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells. J. Cell. Sci. 125 1958-69 PubMed GONUTS page

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HUMAN:AQP2

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References

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