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Aliases for AQP2 Gene

Aliases for AQP2 Gene

  • Aquaporin 2 2 3
  • Aquaporin 2 (Collecting Duct) 2 3 5
  • 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

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) is a Protein Coding gene. Diseases associated with AQP2 include diabetes insipidus, nephrogenic and diabetes insipidus. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include actin binding and PDZ domain binding. 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

Genomic Location for AQP2 Gene

Chromosome:
12
Start:
49,950,741 bp from pter
End:
49,958,881 bp from pter
Size:
8,141 bases
Orientation:
Plus strand

Genomic View for AQP2 Gene

Genes around AQP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P41181-AQP2_HUMAN
    Recommended name:
    Aquaporin-2
    Protein Accession:
    P41181
    Secondary Accessions:
    • Q9UD68

    Protein attributes for AQP2 Gene

    Size:
    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 Asn 123
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for AQP2 Gene

Domains & Families for AQP2 Gene

Gene Families for AQP2 Gene

HGNC:
IUPHAR :

Protein Domains for AQP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP2 Gene

Graphical View of Domain Structure for InterPro Entry

P41181

UniProtKB/Swiss-Prot:

AQP2_HUMAN :
  • 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.
Domain:
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
Family:
  • 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:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with AQP2: view
genes like me logo Genes that share phenotypes with AQP2: view

Human Phenotype Ontology for AQP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AQP2 Gene

MGI Knock Outs for AQP2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for AQP2 Gene COMPARTMENTS Subcellular localization image for AQP2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 4
endosome 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
vacuole 2
cytosol 1

Gene Ontology (GO) - Cellular Components for AQP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,IDA 22375059
GO:0030658 transport vesicle membrane TAS --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with AQP2: view

Pathways & Interactions for AQP2 Gene

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

Gene Ontology (GO) - Biological Process for AQP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009992 cellular water homeostasis IBA --
GO:0015793 glycerol transport IDA 8584435
GO:0034220 ion transmembrane transport IBA --
GO:0042631 cellular response to water deprivation IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with AQP2: view

No data available for SIGNOR curated interactions for AQP2 Gene

Drugs & Compounds for AQP2 Gene

(33) Drugs for AQP2 Gene - From: Novoseek, IUPHAR, DGIdb, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hg<sup>2+</sup> Pharma Inhibitor 0
thiazolidinediones Pharma 0

(17) Additional Compounds for AQP2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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

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
AQP2
ECgene alternative splicing isoforms for
AQP2

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 (x51.0).

Protein differential expression in normal tissues from HIPED for AQP2 Gene

This gene is overexpressed in Urine (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P41181-AQP2_HUMAN
Tissue specificity: Expressed in renal collecting tubules.
genes like me logo Genes that share expression patterns with AQP2: view

Protein tissue co-expression partners for AQP2 Gene

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia AQP2 36
  • 100 (a)
OneToOne
AQP2 35
  • 94.55 (n)
  • 93.54 (a)
cow
(Bos Taurus)
Mammalia AQP2 36
  • 94 (a)
OneToOne
AQP2 35
  • 89.79 (n)
  • 94.1 (a)
dog
(Canis familiaris)
Mammalia AQP2 35
  • 89.05 (n)
  • 95.57 (a)
AQP2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp2 36
  • 89 (a)
OneToOne
Aqp2 16
Aqp2 35
  • 86.84 (n)
  • 88.93 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aqp2 35
  • 85.36 (n)
  • 89.67 (a)
chicken
(Gallus gallus)
Aves AQP2 35
  • 73.51 (n)
  • 79.48 (a)
AQP2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQP2 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia aqp-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp2 35
  • 63.76 (n)
  • 66.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7777 37
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-TIP 35
  • 52.29 (n)
  • 43.13 (a)
corn
(Zea mays)
Liliopsida Zm.615 35
rice
(Oryza sativa)
Liliopsida Os.12345 35
Os04g0550950 35
  • 53.06 (n)
  • 39.91 (a)
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

ENSEMBL:
Gene Tree for AQP2 (if available)
TreeFam:
Gene Tree for AQP2 (if available)

Paralogs for AQP2 Gene

Paralogs for AQP2 Gene

(7) 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
VAR_004401 Diabetes insipidus, nephrogenic, autosomal (ANDI)
VAR_004402 Diabetes insipidus, nephrogenic, autosomal (ANDI)
VAR_004403 Diabetes insipidus, nephrogenic, autosomal (ANDI)
VAR_015239 Diabetes insipidus, nephrogenic, autosomal (ANDI)
VAR_015240 Diabetes insipidus, nephrogenic, autosomal (ANDI)

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

Variation tolerance for AQP2 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AQP2 Gene

HapMap Linkage Disequilibrium report
AQP2
Human Gene Mutation Database (HGMD)
AQP2

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

Disorders for AQP2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for AQP2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AQP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AQP2_HUMAN
  • 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.

Relevant External Links for AQP2

Genetic Association Database (GAD)
AQP2
Human Genome Epidemiology (HuGE) Navigator
AQP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP2
genes like me logo Genes that share disorders with AQP2: view

No data available for Genatlas for AQP2 Gene

Publications for AQP2 Gene

  1. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. (PMID: 9649557) Mulders S.M. … Deen P.M.T. (J. Clin. Invest. 1998) 3 4 23 67
  2. Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12--&amp;gt;q13. (PMID: 7512890) Deen P.M. … van Os C.H. (Cytogenet. Cell Genet. 1994) 2 3 23
  3. The renal adverse effects of ibuprofen are not mediated by AQP2 water channels. (PMID: 20390303) Vieux R. … HascoAt J.M. (Pediatr. Nephrol. 2010) 3 23
  4. Osmolarity and intracellular calcium regulate aquaporin2 expression through TonEBP in nucleus pulposus cells of the intervertebral disc. (PMID: 19138132) Gajghate S. … Risbud M.V. (J. Bone Miner. Res. 2009) 3 23
  5. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. (PMID: 19585583) Savelkoul P.J.M. … Deen P.M.T. (Hum. Mutat. 2009) 3 23

Products for AQP2 Gene

Sources for AQP2 Gene

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