AQP4
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aquaporin 4 | MIM:600308 | Ensembl:ENSG00000171885 | HGNC:HGNC:637 | PA24922 | 18q11.2 |
GO terms in AQP4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0005372 | water transmembrane transporter activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | EXP | GO:0015250 | water channel activity |
| BP | TAS | GO:0003091 | renal water homeostasis |
| BP | TAS | GO:0006833 | water transport |
| BP | IEP | GO:0050891 | multicellular organismal water homeostasis |
| BP | IDA | GO:0071346 | cellular response to interferon-gamma |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0009897 | external side of plasma membrane |
| CC | IBA | GO:0016323 | basolateral plasma membrane |
Gene expression in normal tissue: AQP4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AQP4
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-432040 | Vasopressin regulates renal water homeostasis via Aquaporins |
| reactome | R-HSA-432047 | Passive transport by Aquaporins |
| reactome | R-HSA-445717 | Aquaporin-mediated transport |
| kegg | hsa04962 | Vasopressin-regulated water reabsorption - Homo sapiens (human) |
| kegg | hsa04976 | Bile secretion - Homo sapiens (human) |
| wikipathways | WP2431 | Spinal Cord Injury |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AQP4
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