Summary: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018].

aquaporin 4MIM:600308Ensembl:ENSG00000171885HGNC:HGNC:637PA2492218q11.2

GO terms in AQP4

Term TypeEvidence TypeGO Term IDGO Des.
MFTASGO:0005372water transmembrane transporter activity
MFIPIGO:0005515protein binding
MFEXPGO:0015250water channel activity
BPTASGO:0003091renal water homeostasis
BPTASGO:0006833water transport
BPIEPGO:0050891multicellular organismal water homeostasis
BPIDAGO:0071346cellular response to interferon-gamma
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIDAGO:0009897external side of plasma membrane
CCIBAGO:0016323basolateral plasma membrane

Gene expression in normal tissue: AQP4

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in AQP4

DatabasePathway IDPathway Des.
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-432040Vasopressin regulates renal water homeostasis via Aquaporins
reactomeR-HSA-432047Passive transport by Aquaporins
reactomeR-HSA-445717Aquaporin-mediated transport
kegghsa04962Vasopressin-regulated water reabsorption - Homo sapiens (human)
kegghsa04976Bile secretion - Homo sapiens (human)
wikipathwaysWP2431Spinal Cord Injury
wikipathwaysWP706Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in AQP4