AQP4 (aquaporin 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
361
Gene name Gene Name - the full gene name approved by the HGNC.
Aquaporin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AQP4
Synonyms (NCBI Gene) Gene synonyms aliases
MIWC, MLC4, WCH4, hAQP4
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1555661648 C>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(56)
miRTarBase ID miRNA Experiments Reference
MIRT006498 hsa-miR-320a Luciferase reporter assay 20628061
MIRT006498 hsa-miR-320a Luciferase reporter assay 20628061
MIRT006498 hsa-miR-320a Luciferase reporter assay 20628061
MIRT731925 hsa-miR-29b-3p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 26126866
MIRT731925 hsa-miR-29b-3p Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot 26126866
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
GO ID Ontology Definition Evidence Reference
GO:0003091 Process Renal water homeostasis TAS
GO:0005515 Function Protein binding IPI 25910212, 28734904, 31286866, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IDA 18392839
GO:0005768 Component Endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600308 637 ENSG00000171885
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P55087
Protein name Aquaporin-4 (AQP-4) (Mercurial-insensitive water channel) (MIWC) (WCH4)
Protein function Forms a water-specific channel (PubMed:19383790, PubMed:7559426, PubMed:8601457). Plays an important role in brain water homeostasis (PubMed:37143309). It is involved in glymphatic solute transport and is required for a normal rate of water exch
PDB 3GD8 , 8V8S , 8V91 , 8V9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 29 → 248 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in skeletal muscle (PubMed:29055082). Detected in stomach, along the glandular base region of the fundic gland (at protein level) (PubMed:8601457). Detected in brain, lung and skeletal muscle, and at much lower levels in heart
Sequence
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Vasopressin-regulated water reabsorption
Bile secretion 		  Vasopressin regulates renal water homeostasis via Aquaporins
Passive transport by Aquaporins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1555661648 N/A
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Show/Hide Text Mining Associations (117)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 29479071
AA amyloidosis Stimulate 39603277
Adenocarcinoma Associate 11796780
Adenocarcinoma of Lung Associate 21548930, 33455522
Agenesis of Corpus Callosum Associate 35346374
AIDS Associated Nephropathy Associate 37191905
Allanson Pantzar McLeod syndrome Associate 35346374
Alzheimer Disease Stimulate 21107133
Alzheimer Disease Associate 26919570, 30475760, 34597351, 35695802, 37191905, 39208715, 39603277
Alzheimer Disease Inhibit 30120299