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Aliases for AQP2 Gene

Aliases for AQP2 Gene

  • Aquaporin 2 (Collecting Duct) 2 3
  • Water Channel Protein For Renal Collecting Duct 3 4
  • Collecting Duct Water Channel Protein 3 4
  • ADH Water Channel 3 4
  • Aquaporin-CD 3 4
  • AQP-CD 3 4
  • WCH-CD 3 4
  • AQP-2 3 4
  • Water-Channel Aquaporin 2 3
  • Aquaporin-2 3

External Ids for AQP2 Gene

Previous GeneCards Identifiers for AQP2 Gene

  • GC12P050639
  • GC12P050400
  • GC12P050061
  • GC12P048630
  • GC12P047376

Summaries for AQP2 Gene

Entrez Gene Summary for AQP2 Gene

  • This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]

GeneCards Summary for AQP2 Gene

AQP2 (Aquaporin 2 (Collecting Duct)) is a Protein Coding gene. Diseases associated with AQP2 include diabetes insipidus, nephrogenic and hydronephrosis. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Glucose / Energy Metabolism. GO annotations related to this gene include actin binding and water transmembrane transporter activity. An important paralog of this gene is AQP1.

UniProtKB/Swiss-Prot for AQP2 Gene

  • 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

Tocris Summary for AQP2 Gene

  • Aquaporins (AQPs)are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.

Gene Wiki entry for AQP2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP2 Gene

Genomics for AQP2 Gene

Regulatory Elements for AQP2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AQP2 Gene

49,950,741 bp from pter
49,958,881 bp from pter
8,141 bases
Plus strand

Genomic View for AQP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AQP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP2 Gene

Proteins for AQP2 Gene

  • Protein details for AQP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q9UD68

    Protein attributes for AQP2 Gene

    271 amino acids
    Molecular mass:
    28837 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AQP2 Gene

neXtProt entry for AQP2 Gene

Proteomics data for AQP2 Gene at MOPED

Post-translational modifications for AQP2 Gene

  • Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.
  • Glycosylation at Asn123
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AQP2 (AQP2)

No data available for DME Specific Peptides for AQP2 Gene

Domains for AQP2 Gene

Gene Families for AQP2 Gene

  • AQP :Ion channels / Aquaporins

Protein Domains for AQP2 Gene


Suggested Antigen Peptide Sequences for AQP2 Gene

Graphical View of Domain Structure for InterPro Entry



  • P41181
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA)
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
genes like me logo Genes that share domains with AQP2: view

Function for AQP2 Gene

Molecular function for AQP2 Gene

GENATLAS Biochemistry:
aquaporin 2,water channel forming integral protein in the kidneys collecting duct (MIP family),translocating from intracellular vesicles to the apical plasma membrane,therefore increasing water predominantly in response to vasopressin (AVP)
UniProtKB/Swiss-Prot Function:
Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient

Gene Ontology (GO) - Molecular Function for AQP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005215 transporter activity --
GO:0005372 water transmembrane transporter activity IDA 8584435
GO:0005515 protein binding --
GO:0015168 glycerol transmembrane transporter activity IDA 8584435
genes like me logo Genes that share ontologies with AQP2: view
genes like me logo Genes that share phenotypes with AQP2: view

Animal Models for AQP2 Gene

MGI Knock Outs for AQP2:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AQP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for AQP2 Gene

Localization for AQP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP2 Gene

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

Subcellular locations from

Jensen Localization Image for AQP2 Gene COMPARTMENTS Subcellular localization image for AQP2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
extracellular 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for AQP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005764 lysosome IEA --
GO:0005769 early endosome IEA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005802 trans-Golgi network IEA --
genes like me logo Genes that share ontologies with AQP2: view

Pathways for AQP2 Gene

genes like me logo Genes that share pathways with AQP2: view

Pathways by source for AQP2 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for AQP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0003097 renal water transport IEA --
GO:0006810 transport --
GO:0006833 water transport TAS --
GO:0006884 cell volume homeostasis --
genes like me logo Genes that share ontologies with AQP2: view

Compounds for AQP2 Gene

(1) HMDB Compounds for AQP2 Gene

Compound Synonyms Cas Number PubMed IDs
  • Dihydrogen oxide

(1) IUPHAR Ligand for AQP2 Gene

Ligand Type Action Affinity Pubmed IDs
Hg2+ Inhibitor None

(47) Novoseek inferred chemical compound relationships for AQP2 Gene

Compound -log(P) Hits PubMed IDs
desmopressin 78.5 22
arginine 72.1 47
sodium 53.9 16
lithium 50 21
forskolin 47.6 23
genes like me logo Genes that share compounds with AQP2: view

Transcripts for AQP2 Gene

mRNA/cDNA for AQP2 Gene

Unigene Clusters for AQP2 Gene

Aquaporin 2 (collecting duct):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AQP2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AQP2 Gene

No ASD Table

Relevant External Links for AQP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AQP2 Gene

mRNA expression in normal human tissues for AQP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP2 Gene

This gene is overexpressed in Kidney - Cortex (51.0).

Protein differential expression in normal tissues for AQP2 Gene

This gene is overexpressed in Urine (67.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AQP2 Gene

SOURCE GeneReport for Unigene cluster for AQP2 Gene Hs.130730

mRNA Expression by UniProt/SwissProt for AQP2 Gene

Tissue specificity: Expressed in renal collecting tubules
genes like me logo Genes that share expressions with AQP2: view

Expression partners for AQP2 Gene

In Situ Assay Products

Orthologs for AQP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AQP2 35
  • 89.79 (n)
  • 94.1 (a)
AQP2 36
  • 94 (a)
(Canis familiaris)
Mammalia AQP2 35
  • 89.05 (n)
  • 95.57 (a)
AQP2 36
  • 96 (a)
(Mus musculus)
Mammalia Aqp2 35
  • 86.84 (n)
  • 88.93 (a)
Aqp2 16
Aqp2 36
  • 89 (a)
(Pan troglodytes)
Mammalia AQP2 35
  • 94.55 (n)
  • 93.54 (a)
AQP2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Aqp2 35
  • 85.36 (n)
  • 89.67 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
-- 36
  • 85 (a)
(Gallus gallus)
Aves AQP2 35
  • 73.51 (n)
  • 79.48 (a)
AQP2 36
  • 76 (a)
(Anolis carolinensis)
Reptilia AQP2 36
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp2 35
  • 63.76 (n)
  • 66.29 (a)
African clawed frog
(Xenopus laevis)
Amphibia aqp-A 35
fruit fly
(Drosophila melanogaster)
Insecta CG7777 37
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-TIP 35
  • 52.29 (n)
  • 43.13 (a)
(Oryza sativa)
Liliopsida Os.12345 35
Os04g0550950 35
  • 53.06 (n)
  • 39.91 (a)
(Zea mays)
Liliopsida Zm.615 35
Species with no ortholog for AQP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AQP2 Gene

Gene Tree for AQP2 (if available)
Gene Tree for AQP2 (if available)

Paralogs for AQP2 Gene

Paralogs for AQP2 Gene

Selected SIMAP similar genes for AQP2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with AQP2: view

Variants for AQP2 Gene

Sequence variations from dbSNP and Humsavar for AQP2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs389437 -- 49,950,189(-) GCAGC(C/T)AATCA upstream-variant-2KB
rs3759124 -- 49,949,383(+) AAAGC(A/G)CTCCA upstream-variant-2KB
rs3759125 -- 49,949,825(+) CAACA(A/C)ATGAG upstream-variant-2KB
rs3759126 -- 49,950,079(+) GCCCC(A/G)GGTTG upstream-variant-2KB
rs3782318 -- 49,948,930(+) GCCAG(A/G)AGTTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AQP2 Gene

Variant ID Type Subtype PubMed ID
nsv522972 CNV Gain 19592680
nsv832407 CNV Loss 17160897
nsv899072 CNV Loss 21882294
nsv899073 CNV Loss 21882294
nsv899074 CNV Loss 21882294

Relevant External Links for AQP2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP2 Gene

Disorders for AQP2 Gene

(1) OMIM Diseases for AQP2 Gene (107777)


  • Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:12050236, ECO:0000269 PubMed:12191971, ECO:0000269 PubMed:15509592, ECO:0000269 PubMed:16120822, ECO:0000269 PubMed:16361827, ECO:0000269 PubMed:16845277, ECO:0000269 PubMed:19585583, ECO:0000269 PubMed:24944815, ECO:0000269 PubMed:7524315, ECO:0000269 PubMed:8882880, ECO:0000269 PubMed:9048343, ECO:0000269 PubMed:9302264, ECO:0000269 PubMed:9402087, ECO:0000269 PubMed:9550615, ECO:0000269 PubMed:9649557, ECO:0000269 PubMed:9745427}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(42) Novoseek inferred disease relationships for AQP2 Gene

Disease -log(P) Hits PubMed IDs
diabetes insipidus nephrogenic 97.1 98
water balance disorders 95 9
diabetes insipidus, nephrogenic, autosomal recessive 94.6 7
antidiuresis 81.5 11
central diabetes insipidus 74.9 10

Relevant External Links for AQP2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with AQP2: view

No data available for Genatlas for AQP2 Gene

Publications for AQP2 Gene

  1. Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13. (PMID: 7512890) Deen P.M. … van Os C.H. (Cytogenet. Cell Genet. 1994) 2 3 23
  2. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. (PMID: 9048343) Mulders S.M. … Deen P.M.T. (J. Am. Soc. Nephrol. 1997) 3 4 23
  3. Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. (PMID: 8882880) Oksche A. … Rosenthal W. (Hum. Genet. 1996) 3 4 23
  4. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. (PMID: 9302264) Canfield M.C. … Holtzman E.J. (Hum. Mol. Genet. 1997) 3 4 23
  5. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. (PMID: 9550615) Kuwahara M. (Intern. Med. 1998) 3 4 23

Products for AQP2 Gene

Sources for AQP2 Gene

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