Gene
AQP4
aquaporin 4
- HGNC 637(opens in a new tab)
- Ensembl gene ENSG00000171885(opens in a new tab)
- NCBI Gene 361(opens in a new tab)
Summary
- Cytogenetic location
- 18q11.2
- Coordinates
- Chromosome 18: 26,852,043–26,865,707 (GRCh38)
- Exons
- 5 exons across 13.7 kb
- Protein
- 323 amino acids
- Also known as
- MIWC, AQP-4, hAQP4
- MANE Select transcript
- ENST00000383168.9NM_001650.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How AQP4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.2 kb of the gene's 13.7 kb; 972 of those bases code for the protein.
Traits linked to AQP4
The Human Phenotype Ontology lists these as features of the rare conditions AQP4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Cerebral subcortical cyst
- Clumsiness
- Epilepsy
- Global developmental delay
- Impulsivity
- Intellectual disability
- More active than typical
- Ataxia
Show 12 more traits
- Behavioral abnormality
- Difficulty articulating speech
- Diffuse swelling of cerebral white matter
- Dystonia
- Mental deterioration
- Progressive degeneration of movement
- Repeated seizures without recovery between them
- Unsteady walk
- Abnormality of extrapyramidal motor function
- Autism
- Cerebral white matter atrophy
- Involuntary writhing movements in fingers, hands, toes, and feet
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). AQP4 gene: aquaporin 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/aqp4
Dante Labs. AQP4 gene: aquaporin 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aqp4
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