Aquaporin-4 - CISMeF

Preferred Label : Aquaporin-4;

NCIt synonyms : AQP4; MIWC;

NCIt related terms : AQP-4; Aquaporin 4 Water Channel; Aquaporin 4 Receptor; AQUAPORIN 4; Mercurial-Insensitive Water Channel;

NCIt definition : Aquaporin-4 (323 aa, 35 kDa) is encoded by the human AQP4 gene. This protein is involved in water exchange across the blood brain interface and normal clearance of solutes from the brain interstitial fluid.;

Alternative definition : CDISC: An antigen encoded by the AQP4 gene that forms water-selective channels in the plasma membranes of cells, and thereby regulates brain water homeostasis. It can be considered as an autoantigen and is commonly associated with the autoimmune disease neuromyelitis optica.;

NCIt note : Autoantibodies specific for aquaporin-4 are associated with neuromyelitis optica.;

Détails

Origin ID

C200645;

UMLS CUI

C1565410;

OMIM relation
- Aquaporin 4 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- AQP4 protein, human [MeSH Supplementary Concept]
- AQP4 protein, human [MeSH concept]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- AQP4 Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Plasma Membrane [NCIt concept]
- Sarcolemma [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Vasopressin-Regulated Water Reabsorption Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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