Gene Gene information from NCBI Gene database.
Entrez ID 361
Gene name Aquaporin 4
Gene symbol AQP4
Synonyms (NCBI Gene)
MIWCMLC4WCH4hAQP4
Chromosome 18
Chromosome location 18q11.2
Summary 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.
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.
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 ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 26126866
MIRT731925 hsa-miR-29b-3p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 26126866
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600308 637 ENSG00000171885
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  KEGG  Reactome
  Vasopressin-regulated water reabsorption
Bile secretion
  Vasopressin regulates renal water homeostasis via Aquaporins
Passive transport by Aquaporins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1555661648 RCV000515759
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting Pathogenic rs148498248 RCV003315379
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AQP4-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 20461409
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21548930, 31060025, 31655267
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 35346374 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21107133 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26919570, 30475760, 34597351, 35695802, 37191905, 39208715, 39603277 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30120299 Inhibit
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27893874, 29479071, 31371497, 31746246
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 15200272, 19089902, 22987392, 28274814, 28627708, 29154923, 30980198
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 29390462
★☆☆☆☆
Found in Text Mining only