help  | about  | cite  | software

Gene : AQP2 Homo sapiens

Name  ? aquaporin 2 Cytological Location  12q13.12
Brief Description  aquaporin 2
Description  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]
  • synonyms:
  • uc001rvn.4,
  • OTTHUMG00000169709,
  • WCH-CD,
  • HGNC:634,
  • AQP-CD,
  • aquaporin 2 (collecting duct),
  • NM_000486,
  • AQP2
  • identifiers:
  • 359,
  • ENSG00000167580,
  • AQP2

Genome feature

Region: gene ? Length: 8142  
Location: 12:49950737-49958878 Cyto location: 12q13.12

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



49 SNPs

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results