Gene
aqp4
- ID
- ZDB-GENE-040724-152
- Name
- aquaporin 4
- Symbol
- aqp4 Nomenclature History
- Previous Names
-
- si:ch211-192k9.1
- zgc:100922
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Enables water transmembrane transporter activity. Predicted to be involved in water transport. Predicted to act upstream of or within transmembrane transport. Predicted to be located in cell projection; endosome membrane; and sarcolemma. Predicted to be active in basolateral plasma membrane. Is expressed in gill; integument; muscle; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including Meniere's disease; megalencephalic leukoencephalopathy with subcortical cysts; optic nerve disease (multiple); temporal lobe epilepsy; and transverse myelitis. Orthologous to human AQP4 (aquaporin 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting | 620448 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Aquaporin-like | Aquaporin transporter | Major intrinsic protein | Major intrinsic protein, conserved site |
---|---|---|---|---|---|
UniProtKB:Q6AZD2
|
320 | ||||
UniProtKB:A0A2R8Q5A8
|
328 |
Interactions and Pathways
No data available
Plasmids
No data available