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AQP2 Gene(Protein Coding)

Aquaporin 2

GCID:
GC12P049950
GIFtS:
66
Genes Participants
UDN Logo

Aliases for AQP2 Gene

Aliases for AQP2 Gene

  • Aquaporin 2 2 3 5
  • Water Channel Protein For Renal Collecting Duct 3 4
  • Collecting Duct Water Channel Protein 3 4
  • Aquaporin 2 (Collecting Duct) 2 3
  • 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) is a Protein Coding gene. Diseases associated with AQP2 include Diabetes Insipidus, Nephrogenic and Diabetes Insipidus. Among its related pathways are Aquaporin-mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include actin binding and PDZ domain binding. An important paralog of this gene is AQP5.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP2 Gene

Genomics for AQP2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for AQP2 Gene

Enhancers for AQP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G050039 1.4 Ensembl ENCODE dbSUPER 10.5 +89.0 89007 1.1 ATF1 CBX3 RB1 CREB3L1 ZSCAN4 ZNF2 RAD21 TCF12 GATA2 EGR1 AQP6 AQP5 AQP2 LIMA1 LARP4 RACGAP1 ASIC1
GH12G050066 1.3 FANTOM5 Ensembl ENCODE 10.2 +115.9 115922 1.1 BCOR ESRRA TEAD4 ZIC2 TEAD3 POLR2A FOS RFX1 BHLHE40 CEBPB CERS5 AQP6 RACGAP1 AQP2 GC12P050064 SMARCD1
GH12G049887 1.1 dbSUPER 10.9 -61.7 -61741 2.0 FOXA2 ARNT CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 PRPF40B AQP2 GC12M049898 RPL35AP28
GH12G049889 1.1 dbSUPER 10.9 -60.6 -60570 0.8 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 KLF13 AQP2 GC12M049898 RPL35AP28
GH12G049888 1.1 dbSUPER 10.9 -61.4 -61387 4.1 FOXA2 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 PRPF40B AQP2 FAIM2 GC12M049898 RPL35AP28
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AQP2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AQP2 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for AQP2 Gene

Proteins for AQP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for AQP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=123123
  • 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

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 --
GO:0005372 water transmembrane transporter activity IDA 8584435
GO:0005515 protein binding IPI 25910212
GO:0015168 glycerol transmembrane transporter activity IDA 8584435
GO:0015250 water channel activity IBA,TAS --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AQP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
endosome 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for AQP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA,IDA 22375059
GO:0016021 integral component of membrane 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

Pathways by source for AQP2 Gene

1 Cell Signaling Technology pathway for AQP2 Gene
1 KEGG pathway for AQP2 Gene
1 Qiagen pathway for AQP2 Gene

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 IEA --
GO:0006833 water transport IDA,TAS --
GO:0007588 excretion TAS 7532304
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

Products:

  1. Drug

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

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

(14) Additional Compounds for AQP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AQP2: view

Transcripts for AQP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AQP2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(52) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AQP2 Gene

Aquaporin 2 (collecting duct):
Representative Sequences:

Inhibitory RNA Products

Clone 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP2 Gene

mRNA expression in normal human tissues for AQP2 Gene
mRNA expression by BioGPS for AQP2 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for AQP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP2 Gene:

AQP2

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.

Evidence on tissue expression from TISSUES for AQP2 Gene

  • Kidney(4.9)
  • Intestine(4.2)
  • Urine(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • pituitary gland
Thorax:
  • esophagus
  • heart
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • rectum
  • urinary bladder
General:
  • blood vessel
genes like me logo Genes that share expression patterns with AQP2: view

Primer 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 34 35
  • 94.55 (n)
cow
(Bos Taurus)
 Mammalia AQP2 34 35
  • 89.79 (n)
dog
(Canis familiaris)
 Mammalia AQP2 34 35
  • 89.05 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 88 (a)
 OneToMany
-- 35
  • 85 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Aqp2 34 16 35
  • 86.84 (n)
rat
(Rattus norvegicus)
 Mammalia Aqp2 34
  • 85.36 (n)
chicken
(Gallus gallus)
 Aves AQP2 34 35
  • 73.51 (n)
lizard
(Anolis carolinensis)
 Reptilia AQP2 35
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia aqp2 34
  • 63.76 (n)
African clawed frog
(Xenopus laevis)
 Amphibia aqp-A 34
fruit fly
(Drosophila melanogaster)
 Insecta CG7777 36
  • 38 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons DELTA-TIP 34
  • 52.29 (n)
rice
(Oryza sativa)
 Liliopsida Os04g0550950 34
  • 53.06 (n)
Os.12345 34
corn
(Zea mays)
 Liliopsida Zm.615 34
Species where no ortholog for AQP2 was found in the sources mined by GeneCards:
  • 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
rs104894326 Pathogenic, Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] 49,951,020(+) TAAGC(A/G)GGGCC downstream-variant-500B, reference, missense
rs104894328 Pathogenic, Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] 49,954,663(+) CTGCC(C/T)GCTCC intron-variant, reference, missense
rs104894329 Pathogenic, Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] 49,955,438(+) TGGGC(C/T)CCCTC intron-variant, reference, missense
rs104894330 Pathogenic, Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] 49,954,171(+) CACGA(A/C/T)GGCTG intron-variant, nc-transcript-variant, reference, missense
rs104894331 Pathogenic, Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] 49,951,033(+) CATCA(A/C/G)CCCTG downstream-variant-500B, reference, missense

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

Variant ID Type Subtype PubMed ID
esv9348 CNV gain 19470904
nsv476029 CNV novel sequence insertion 20440878
nsv522972 CNV gain 19592680
nsv558835 CNV gain 21841781
nsv558837 CNV loss 21841781
nsv832407 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
AQP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP2

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

Disorders for AQP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diabetes insipidus, nephrogenic
  • nephrogenic diabetes insipidus
diabetes insipidus
impaired renal function disease
diabetes insipidus, neurohypophyseal
  • neurohypophyseal diabetes insipidus
hydronephrosis
- 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:19701945, 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. 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 4 22 64
  2. Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. (PMID: 19701945) Kamsteeg E.-J. … Deen P.M.T. (Hum. Mutat. 2009) 3 4 22 64
  3. Study of the association of -667 aquaporin-2 (AQP-2) A/G promoter polymorphism with the incidence and clinical course of chronic kidney disease in Korea. (PMID: 17763164) Kang S.W. … Kim E. (Ren Fail 2007) 3 22 46 64
  4. Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. (PMID: 11929850) Marr N. … Deen P.M.T. (Hum. Mol. Genet. 2002) 3 4 22 64
  5. The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel. (PMID: 12194985) van Balkom B.W.M. … Deen P.M.T. (J. Biol. Chem. 2002) 3 4 22 64

Products for AQP2 Gene

  • Cloud-Clone Corp. Antibodies for AQP2
  • Cloud-Clone Corp. Proteins for AQP2
  • Cloud-Clone Corp Assay Kits for AQP2

Sources for AQP2 Gene

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