AQP2
Sign in to saveAlso known as AQP-CD, WCH-CD, aquaporin 2, NDI2
Aquaporin-2 (AQP-2) is found in the apical cell membranes of the kidney's collecting duct principal cells and in intracellular vesicles located throughout the cell. It is encoded by the gene.
Gene data
AQP2- Name
- aquaporin 2
- Type
- protein-coding
- Position
- 49,950,736–49,958,881 (+)
- Aliases
- AQP-2, AQP-CD, NDI2, WCH-CD
- Ensembl
- ENSG00000167580
- RefSeq RNA
- NM_000486.6
- RefSeq protein
- NP_000477.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
aquaporin 2
- Symbol
- AQP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:49,950,736-49,958,881
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- found in taxon
- Homo sapiens
- HomoloGene ID
- 20137
- exact match
- identifiers.org/ncbigene/359
- genomic end
- 49958878
- genomic start
- 49950737
- chromosome
- human chromosome 12
- cytogenetic location
- 12q13.12
- genetic association
- nephrogenic diabetes insipidus
Sources (7)
via Wikidata · CC0
~2 min read
Encyclopedic overview
6 sectionsContents
- Regulation
- Clinical significance
- See also
- References
- Further reading
- External links
Aquaporin-2 (AQP-2) is found in the apical cell membranes of the kidney's collecting duct principal cells and in intracellular vesicles located throughout the cell. It is encoded by the gene.
== Regulation ==
Excerpted from Wikipedia’s “AQP2” article, available under the CC BY-SA 4.0 licence.