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Entry version 192 (07 Oct 2020)
Sequence version 1 (01 Feb 1995)
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Protein

Aquaporin-2

Gene

AQP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 (PubMed:8140421, PubMed:7524315, PubMed:7510718, PubMed:15509592). Plays an essential role in renal water homeostasis (PubMed:8140421, PubMed:7524315, PubMed:15509592).4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P41181

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-432040, Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-432047, Passive transport by Aquaporins

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.8.8.8, the major intrinsic protein (mip) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Aquaporin-2
Short name:
AQP-2
Alternative name(s):
ADH water channel
Aquaporin-CD1 Publication
Short name:
AQP-CD
Collecting duct water channel protein
WCH-CD
Water channel protein for renal collecting duct
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AQP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000167580.7

Human Gene Nomenclature Database

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HGNCi
HGNC:634, AQP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
107777, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P41181

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 11Cytoplasmic1 PublicationAdd BLAST11
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei12 – 32Helical1 PublicationAdd BLAST21
Topological domaini33 – 40Extracellular1 Publication8
Transmembranei41 – 59Helical1 PublicationAdd BLAST19
Topological domaini60 – 64Cytoplasmic1 Publication5
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei65 – 74Discontinuously helical1 Publication10
Topological domaini75 – 85Cytoplasmic1 PublicationAdd BLAST11
Transmembranei86 – 107Helical1 PublicationAdd BLAST22
Topological domaini108 – 127Extracellular1 PublicationAdd BLAST20
Transmembranei128 – 148Helical1 PublicationAdd BLAST21
Topological domaini149 – 156Cytoplasmic1 Publication8
Transmembranei157 – 176Helical1 PublicationAdd BLAST20
Topological domaini177 – 180Extracellular1 Publication4
Intramembranei181 – 193Discontinuously helical1 PublicationAdd BLAST13
Topological domaini194 – 201Extracellular1 Publication8
Transmembranei202 – 222Helical1 PublicationAdd BLAST21
Topological domaini223 – 271CytoplasmicCuratedAdd BLAST49

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Diabetes insipidus, nephrogenic, autosomal (ANDI)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01523922L → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894336EnsemblClinVar.1
Natural variantiVAR_01524028L → P in ANDI. 1 Publication1
Natural variantiVAR_01524147A → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs995684800EnsemblClinVar.1
Natural variantiVAR_01525657Q → P in ANDI. 1 PublicationCorresponds to variant dbSNP:rs28931580EnsemblClinVar.1
Natural variantiVAR_00440164G → R in ANDI; loss of water channel activity. 1 PublicationCorresponds to variant dbSNP:rs104894326EnsemblClinVar.1
Natural variantiVAR_01524268N → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894331EnsemblClinVar.1
Natural variantiVAR_06258570A → D in ANDI. 1 Publication1
Natural variantiVAR_01524371V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs149659001EnsemblClinVar.1
Natural variantiVAR_062586100G → R in ANDI. 1 PublicationCorresponds to variant dbSNP:rs1303076207Ensembl.1
Natural variantiVAR_015257100G → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894338EnsemblClinVar.1
Natural variantiVAR_071370108T → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs1468828294Ensembl.1
Natural variantiVAR_015244125T → M in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894333EnsemblClinVar.1
Natural variantiVAR_015245126T → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894330EnsemblClinVar.1
Natural variantiVAR_015246147A → T in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894334EnsemblClinVar.1
Natural variantiVAR_015247168V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs755694590Ensembl.1
Natural variantiVAR_015248175G → R in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894335EnsemblClinVar.1
Natural variantiVAR_062587180G → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs147039983Ensembl.1
Natural variantiVAR_015249181C → W in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894337EnsemblClinVar.1
Natural variantiVAR_015250185P → A in ANDI. 1 PublicationCorresponds to variant dbSNP:rs761713751Ensembl.1
Natural variantiVAR_004402187R → C in ANDI; loss of water channel activity; mutant protein does not fold properly. 3 PublicationsCorresponds to variant dbSNP:rs104894328EnsemblClinVar.1
Natural variantiVAR_062588187R → H in ANDI. 1 PublicationCorresponds to variant dbSNP:rs193922495EnsemblClinVar.1
Natural variantiVAR_015251190A → T in ANDI; mutant protein does not fold properly and is not functional. 2 PublicationsCorresponds to variant dbSNP:rs104894341EnsemblClinVar.1
Natural variantiVAR_015253202W → C in ANDI. 1 Publication1
Natural variantiVAR_004403216S → P in ANDI; loss of water channel activity. 3 PublicationsCorresponds to variant dbSNP:rs104894329EnsemblClinVar.1
Natural variantiVAR_062589254R → L in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256. 1 Publication1
Natural variantiVAR_062590254R → Q in ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus. 1 Publication1
Natural variantiVAR_015254258E → K in ANDI; retained in the Golgi compartment. 2 PublicationsCorresponds to variant dbSNP:rs104894332EnsemblClinVar.1
Natural variantiVAR_015255262P → L in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles; able to assemble into tetramers with wild-type AQP2 that properly localize to the apical membrane. 2 PublicationsCorresponds to variant dbSNP:rs104894339EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi148S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi148S → D: Retained in the endoplasmic reticulum. 1 Publication1
Mutagenesisi229S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi229S → D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi231S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi231S → D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi244T → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi244T → E: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi256S → A: Retained in vesicles. 1 Publication1
Mutagenesisi256S → D: Expressed in the apical membrane. 1 Publication1
Mutagenesisi262P → A: No effect on expression at the apical cell membrane. 1 Publication1

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
359

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
AQP2

MalaCards human disease database

More...
MalaCardsi
AQP2
MIMi125800, phenotype

Open Targets

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OpenTargetsi
ENSG00000167580

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
223, Nephrogenic diabetes insipidus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24920

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P41181, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
AQP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
728874

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000639341 – 271Aquaporin-2Add BLAST271

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei256Phosphoserine; by PKA1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.1 Publication
N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P41181

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P41181

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P41181

PeptideAtlas

More...
PeptideAtlasi
P41181

PRoteomics IDEntifications database

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PRIDEi
P41181

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
55412

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P41181, 1 site

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P41181

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P41181

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in collecting tubules in kidney medulla (at protein level) (PubMed:7510718). Detected in kidney (PubMed:7510718).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167580, Expressed in cortex of kidney and 130 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P41181, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P41181, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000167580, Group enriched (ductus deferens, kidney, seminal vesicle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
P41181
With#Exp.IntAct
CDIPT [O14735]3EBI-12701138,EBI-358858
CREB3 - isoform 1 [O43889-2]3EBI-12701138,EBI-625022
CREB3L1 [Q96BA8]3EBI-12701138,EBI-6942903
EFNA5 [P52803]3EBI-12701138,EBI-1753674
ERG28 [Q9UKR5]3EBI-12701138,EBI-711490
ERGIC3 [Q9Y282]3EBI-12701138,EBI-781551
ERMP1 [Q7Z2K6]3EBI-12701138,EBI-10976398
FAM209A [Q5JX71]3EBI-12701138,EBI-18304435
FAM3C [Q92520]3EBI-12701138,EBI-2876774
GPX8 [Q8TED1]3EBI-12701138,EBI-11721746
IGFBP5 [P24593]3EBI-12701138,EBI-720480
INSIG2 [Q9Y5U4]3EBI-12701138,EBI-8503746
LEUTX [A8MZ59]3EBI-12701138,EBI-17490413
LHFPL5 [Q8TAF8]3EBI-12701138,EBI-2820517
MRM1 [Q6IN84]3EBI-12701138,EBI-5454865
MS4A13 [Q5J8X5]3EBI-12701138,EBI-12070086
MUC1 - isoform Y-LSP [P15941-11]3EBI-12701138,EBI-17263240
NRM [Q8IXM6]3EBI-12701138,EBI-10262547
OLFM4 [Q6UX06]3EBI-12701138,EBI-2804156
OR10AG1 [Q8NH19]3EBI-12701138,EBI-13339917
PANX1 [Q96RD7]3EBI-12701138,EBI-7037612
PDZK1IP1 [Q13113]3EBI-12701138,EBI-716063
PMP22 [Q01453]3EBI-12701138,EBI-2845982
PNLIPRP1 [P54315]3EBI-12701138,EBI-8652812
PPGB [Q59EV6]3EBI-12701138,EBI-14210385
RTP2 [Q5QGT7]3EBI-12701138,EBI-10244780
SLC26A6 - isoform 3 [Q9BXS9-3]3EBI-12701138,EBI-12814225
SLC30A2 [Q9BRI3]3EBI-12701138,EBI-8644112
SLC38A7 [Q9NVC3]3EBI-12701138,EBI-10314552
SNAP47 [Q5SQN1]3EBI-12701138,EBI-10244848
TMEM109 [Q9BVC6]3EBI-12701138,EBI-1057733
TMEM218 [A2RU14]3EBI-12701138,EBI-10173151
TMEM236 [Q5W0B7]3EBI-12701138,EBI-13378608
TMEM60 [Q9H2L4]3EBI-12701138,EBI-2852148
TMEM86A [Q8N2M4]3EBI-12701138,EBI-12015604
TMEM97 [Q5BJF2]3EBI-12701138,EBI-12111910
TUSC5 [A5PKU2]3EBI-12701138,EBI-11988865
YIPF6 [Q96EC8]3EBI-12701138,EBI-751210

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
106855, 67 interactors

Protein interaction database and analysis system

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IntActi
P41181, 38 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000199280

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P41181, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1271
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P41181

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi68 – 70NPA 11 Publication3
Motifi184 – 186NPA 21 Publication3

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0223, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000160612

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P41181

KEGG Orthology (KO)

More...
KOi
K09865

Identification of Orthologs from Complete Genome Data

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OMAi
ASMCAGG

Database of Orthologous Groups

More...
OrthoDBi
1152704at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P41181

TreeFam database of animal gene trees

More...
TreeFami
TF312940

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00333, MIP, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1080.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR023271, Aquaporin-like
IPR034294, Aquaporin_transptr
IPR000425, MIP
IPR022357, MIP_CS

The PANTHER Classification System

More...
PANTHERi
PTHR19139, PTHR19139, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00230, MIP, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00783, MINTRINSICP

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81338, SSF81338, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00861, MIP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00221, MIP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P41181-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL
60 70 80 90 100
GIGTLVQALG HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG
110 120 130 140 150
AALLHEITPA DIRGDLAVNA LSNSTTAGQA VTVELFLTLQ LVLCIFASTD
160 170 180 190 200
ERRGENPGTP ALSIGFSVAL GHLLGIHYTG CSMNPARSLA PAVVTGKFDD
210 220 230 240 250
HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL EPDTDWEERE
260 270
VRRRQSVELH SPQSLPRGTK A
Length:271
Mass (Da):28,837
Last modified:February 1, 1995 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC2DDE2AF4DDD192A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VPL3F8VPL3_HUMAN
Aquaporin-2
AQP2
244Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W0S2F8W0S2_HUMAN
Aquaporin-2
AQP2
223Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti35 – 38PQAL → ATAP (PubMed:7510718).Curated4
Sequence conflicti83V → F (PubMed:7510718).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01523922L → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894336EnsemblClinVar.1
Natural variantiVAR_01524028L → P in ANDI. 1 Publication1
Natural variantiVAR_01524147A → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs995684800EnsemblClinVar.1
Natural variantiVAR_01525657Q → P in ANDI. 1 PublicationCorresponds to variant dbSNP:rs28931580EnsemblClinVar.1
Natural variantiVAR_00440164G → R in ANDI; loss of water channel activity. 1 PublicationCorresponds to variant dbSNP:rs104894326EnsemblClinVar.1
Natural variantiVAR_01524268N → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894331EnsemblClinVar.1
Natural variantiVAR_06258570A → D in ANDI. 1 Publication1
Natural variantiVAR_01524371V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs149659001EnsemblClinVar.1
Natural variantiVAR_062586100G → R in ANDI. 1 PublicationCorresponds to variant dbSNP:rs1303076207Ensembl.1
Natural variantiVAR_015257100G → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894338EnsemblClinVar.1
Natural variantiVAR_071370108T → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs1468828294Ensembl.1
Natural variantiVAR_037577121L → F. Corresponds to variant dbSNP:rs11169226Ensembl.1
Natural variantiVAR_015244125T → M in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894333EnsemblClinVar.1
Natural variantiVAR_015245126T → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894330EnsemblClinVar.1
Natural variantiVAR_015246147A → T in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894334EnsemblClinVar.1
Natural variantiVAR_015247168V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs755694590Ensembl.1
Natural variantiVAR_015248175G → R in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894335EnsemblClinVar.1
Natural variantiVAR_062587180G → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs147039983Ensembl.1
Natural variantiVAR_015249181C → W in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894337EnsemblClinVar.1
Natural variantiVAR_015250185P → A in ANDI. 1 PublicationCorresponds to variant dbSNP:rs761713751Ensembl.1
Natural variantiVAR_004402187R → C in ANDI; loss of water channel activity; mutant protein does not fold properly. 3 PublicationsCorresponds to variant dbSNP:rs104894328EnsemblClinVar.1
Natural variantiVAR_062588187R → H in ANDI. 1 PublicationCorresponds to variant dbSNP:rs193922495EnsemblClinVar.1
Natural variantiVAR_015251190A → T in ANDI; mutant protein does not fold properly and is not functional. 2 PublicationsCorresponds to variant dbSNP:rs104894341EnsemblClinVar.1
Natural variantiVAR_015252194V → I1 PublicationCorresponds to variant dbSNP:rs772051028Ensembl.1
Natural variantiVAR_015253202W → C in ANDI. 1 Publication1
Natural variantiVAR_004403216S → P in ANDI; loss of water channel activity. 3 PublicationsCorresponds to variant dbSNP:rs104894329EnsemblClinVar.1
Natural variantiVAR_062589254R → L in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256. 1 Publication1
Natural variantiVAR_062590254R → Q in ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus. 1 Publication1
Natural variantiVAR_015254258E → K in ANDI; retained in the Golgi compartment. 2 PublicationsCorresponds to variant dbSNP:rs104894332EnsemblClinVar.1
Natural variantiVAR_015255262P → L in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles; able to assemble into tetramers with wild-type AQP2 that properly localize to the apical membrane. 2 PublicationsCorresponds to variant dbSNP:rs104894339EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z29491 Genomic DNA Translation: CAA82627.1
D31846 Genomic DNA Translation: BAA06632.1
S73196 mRNA Translation: AAB31999.1
S73197 mRNA Translation: AAB31998.1
AF147093, AF147092 Genomic DNA Translation: AAD38692.1
BC042496 mRNA Translation: AAH42496.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8792.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A53442
I64818

NCBI Reference Sequences

More...
RefSeqi
NP_000477.1, NM_000486.5

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000199280; ENSP00000199280; ENSG00000167580

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
359

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:359

UCSC genome browser

More...
UCSCi
uc001rvn.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29491 Genomic DNA Translation: CAA82627.1
D31846 Genomic DNA Translation: BAA06632.1
S73196 mRNA Translation: AAB31999.1
S73197 mRNA Translation: AAB31998.1
AF147093, AF147092 Genomic DNA Translation: AAD38692.1
BC042496 mRNA Translation: AAH42496.1
CCDSiCCDS8792.1
PIRiA53442
I64818
RefSeqiNP_000477.1, NM_000486.5

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NEFX-ray2.75A/B/C/D3-241[»]
4OJ2X-ray3.05X1-271[»]
6QF5X-ray3.70A/B/C/D3-242[»]
SMRiP41181
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106855, 67 interactors
IntActiP41181, 38 interactors
STRINGi9606.ENSP00000199280

Protein family/group databases

TCDBi1.A.8.8.8, the major intrinsic protein (mip) family

PTM databases

GlyGeniP41181, 1 site
iPTMnetiP41181
PhosphoSitePlusiP41181

Polymorphism and mutation databases

BioMutaiAQP2
DMDMi728874

Proteomic databases

jPOSTiP41181
MassIVEiP41181
PaxDbiP41181
PeptideAtlasiP41181
PRIDEiP41181
ProteomicsDBi55412

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
4081, 596 antibodies

The DNASU plasmid repository

More...
DNASUi
359

Genome annotation databases

EnsembliENST00000199280; ENSP00000199280; ENSG00000167580
GeneIDi359
KEGGihsa:359
UCSCiuc001rvn.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
359
DisGeNETi359
EuPathDBiHostDB:ENSG00000167580.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AQP2
GeneReviewsiAQP2
HGNCiHGNC:634, AQP2
HPAiENSG00000167580, Group enriched (ductus deferens, kidney, seminal vesicle)
MalaCardsiAQP2
MIMi107777, gene
125800, phenotype
neXtProtiNX_P41181
OpenTargetsiENSG00000167580
Orphaneti223, Nephrogenic diabetes insipidus
PharmGKBiPA24920

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0223, Eukaryota
GeneTreeiENSGT00940000160612
InParanoidiP41181
KOiK09865
OMAiASMCAGG
OrthoDBi1152704at2759
PhylomeDBiP41181
TreeFamiTF312940

Enzyme and pathway databases

PathwayCommonsiP41181
ReactomeiR-HSA-432040, Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-432047, Passive transport by Aquaporins

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
359, 2 hits in 870 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Aquaporin_2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
359
PharosiP41181, Tbio

Protein Ontology

More...
PROi
PR:P41181
RNActiP41181, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167580, Expressed in cortex of kidney and 130 other tissues
ExpressionAtlasiP41181, baseline and differential
GenevisibleiP41181, HS

Family and domain databases

CDDicd00333, MIP, 1 hit
Gene3Di1.20.1080.10, 1 hit
InterProiView protein in InterPro
IPR023271, Aquaporin-like
IPR034294, Aquaporin_transptr
IPR000425, MIP
IPR022357, MIP_CS
PANTHERiPTHR19139, PTHR19139, 1 hit
PfamiView protein in Pfam
PF00230, MIP, 1 hit
PRINTSiPR00783, MINTRINSICP
SUPFAMiSSF81338, SSF81338, 1 hit
TIGRFAMsiTIGR00861, MIP, 1 hit
PROSITEiView protein in PROSITE
PS00221, MIP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAQP2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P41181
Secondary accession number(s): Q9UD68
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: October 7, 2020
This is version 192 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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