AQP4
Chr 18aquaporin 4
Also known as: MIWC, MLC4, WCH4, hAQP4
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]
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AQP4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
REACT MCI - Repeated Advanced Cognitive Training in Mild Cognitive Impairment
ACTIVE NOT RECRUITINGPrecision Medicine in the Treatment of Epilepsy
RECRUITINGAnalysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
RECRUITINGThe Safety and Efficacy of KSVCBD Injection in Neuromyelitis Optica Spectrum Disorder.
NOT YET RECRUITINGFrequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Anti-oligodendrocyte Myelin Protein Antibody Disease, and Multiple Sclerosis.
RECRUITINGExternal Resources
Links to major genomics databases and tools