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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.

<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

Reactome - a knowledgebase of biological pathways and processes

More...
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_and_taxonomy_section">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-CD
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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

More...
HGNCi
HGNC:634 AQP2

Online Mendelian Inheritance in Man (OMIM)

More...
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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 16CytoplasmicSequence analysisAdd BLAST16
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei17 – 34HelicalSequence analysisAdd BLAST18
Topological domaini35 – 40ExtracellularSequence analysis6
Transmembranei41 – 59HelicalSequence analysisAdd BLAST19
Topological domaini60 – 85CytoplasmicSequence analysisAdd BLAST26
Transmembranei86 – 107HelicalSequence analysisAdd BLAST22
Topological domaini108 – 127ExtracellularSequence analysisAdd BLAST20
Transmembranei128 – 148HelicalSequence analysisAdd BLAST21
Topological domaini149 – 156CytoplasmicSequence analysis8
Transmembranei157 – 176HelicalSequence analysisAdd BLAST20
Topological domaini177 – 202ExtracellularSequence analysisAdd BLAST26
Transmembranei203 – 224HelicalSequence analysisAdd BLAST22
Topological domaini225 – 271CytoplasmicSequence analysisAdd BLAST47

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)17 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.
See also OMIM:125800
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:rs995684800Ensembl.1
Natural variantiVAR_01525657Q → P in ANDI. 1 PublicationCorresponds to variant dbSNP:rs28931580EnsemblClinVar.1
Natural variantiVAR_00440164G → R in ANDI. 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 Publication1
Natural variantiVAR_015257100G → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894338EnsemblClinVar.1
Natural variantiVAR_071370108T → M in ANDI. 1 Publication1
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; mutant protein does not fold properly and is not functional. 2 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. 2 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 and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes 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_and_biotech_section">'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

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
359

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

More...
GeneReviewsi
AQP2

MalaCards human disease database

More...
MalaCardsi
AQP2
MIMi125800 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167580

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

More...
Orphaneti
223 Nephrogenic diabetes insipidus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24920

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
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.<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_processing_section">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_processing_section">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

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

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

More...
PaxDbi
P41181

PeptideAtlas

More...
PeptideAtlasi
P41181

PRoteomics IDEntifications database

More...
PRIDEi
P41181

ProteomicsDB human proteome resource

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ProteomicsDBi
55412

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
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 renal collecting tubules.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167580 Expressed in 112 organ(s), highest expression level in cortex of kidney

CleanEx database of gene expression profiles

More...
CleanExi
HS_AQP2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P41181 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P41181 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046834

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3O43889-23EBI-12701138,EBI-625022

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106855, 28 interactors

Protein interaction database and analysis system

More...
IntActi
P41181, 34 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000199280

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P41181

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

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SMRi
P41181

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 13
Motifi184 – 186NPA 23

<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).

<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
COG0580 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160612

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000288286

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG000312

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P41181

KEGG Orthology (KO)

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KOi
K09865

Identification of Orthologs from Complete Genome Data

More...
OMAi
ASMCAGG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G166T

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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
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>
F8VPL3F8VPL3_HUMAN
Aquaporin-2
AQP2
244Annotation 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:rs995684800Ensembl.1
Natural variantiVAR_01525657Q → P in ANDI. 1 PublicationCorresponds to variant dbSNP:rs28931580EnsemblClinVar.1
Natural variantiVAR_00440164G → R in ANDI. 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 Publication1
Natural variantiVAR_015257100G → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894338EnsemblClinVar.1
Natural variantiVAR_071370108T → M in ANDI. 1 Publication1
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; mutant protein does not fold properly and is not functional. 2 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. 2 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 and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane. 2 PublicationsCorresponds to variant dbSNP:rs104894339EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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CCDSi
CCDS8792.1

Protein sequence database of the Protein Information Resource

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PIRi
A53442
I64818

NCBI Reference Sequences

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RefSeqi
NP_000477.1, NM_000486.5

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.130730

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000199280; ENSP00000199280; ENSG00000167580

Database of genes from NCBI RefSeq genomes

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GeneIDi
359

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:359

UCSC genome browser

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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
UniGeneiHs.130730

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NEFX-ray2.75A/B/C/D3-241[»]
4OJ2X-ray3.05X1-271[»]
ProteinModelPortaliP41181
SMRiP41181
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106855, 28 interactors
IntActiP41181, 34 interactors
STRINGi9606.ENSP00000199280

Protein family/group databases

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

PTM databases

iPTMnetiP41181
PhosphoSitePlusiP41181

Polymorphism and mutation databases

BioMutaiAQP2
DMDMi728874

Proteomic databases

PaxDbiP41181
PeptideAtlasiP41181
PRIDEiP41181
ProteomicsDBi55412

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
359
Structural Biology KnowledgebaseSearch...

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

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GeneCardsi
AQP2
GeneReviewsiAQP2
HGNCiHGNC:634 AQP2
HPAiHPA046834
MalaCardsiAQP2
MIMi107777 gene
125800 phenotype
neXtProtiNX_P41181
OpenTargetsiENSG00000167580
Orphaneti223 Nephrogenic diabetes insipidus
PharmGKBiPA24920

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0223 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00940000160612
HOGENOMiHOG000288286
HOVERGENiHBG000312
InParanoidiP41181
KOiK09865
OMAiASMCAGG
OrthoDBiEOG091G166T
PhylomeDBiP41181
TreeFamiTF312940

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Aquaporin_2

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

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GenomeRNAii
359

Protein Ontology

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PROi
PR:P41181

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167580 Expressed in 112 organ(s), highest expression level in cortex of kidney
CleanExiHS_AQP2
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

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ProtoNeti
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_and_isoforms">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: December 5, 2018
This is version 180 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, Complete proteome, Reference proteome

Documents

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