Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
360
Gene name Gene Name - the full gene name approved by the HGNC.
Aquaporin 3 (Gill blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AQP3
Synonyms (NCBI Gene) Gene synonyms aliases
AQP-3, GIL
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting d
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1347380973 C>G,T Affects Splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040256 hsa-miR-615-3p CLASH 23622248
MIRT053376 hsa-miR-874-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23800944
MIRT053376 hsa-miR-874-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23800944
MIRT053376 hsa-miR-874-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23800944
MIRT053376 hsa-miR-874-3p Luciferase reporter assay, qRT-PCR, Western blot 24462679
Transcription factors
Transcription factor Regulation Reference
CREB1 Unknown 18495115
TP53 Unknown 11231003
TP73 Unknown 11231003
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002684 Process Positive regulation of immune system process IDA 17943189
GO:0002931 Process Response to ischemia IEA
GO:0003091 Process Renal water homeostasis TAS
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600170 636 ENSG00000165272
Protein
UniProt ID Q92482
Protein name Aquaporin-3 (AQP-3) (Aquaglyceroporin-3)
Protein function Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:12239222, PubMed:30420639). Could also be permea
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 16 261 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in epithelial cells of kidney (collecting ducts) and airways, in keratinocytes, immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the protein level.
Sequence
Sequence length 292
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vasopressin-regulated water reabsorption   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)
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
Dermatitis Atopic dermatitis N/A N/A GWAS
Lung adenocarcinoma Lung adenocarcinoma, Lung adenocarcinoma (conditioned on cigarettes per day) N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrospiroma Associate 34745849
Acute Lung Injury Stimulate 27835672
Adenocarcinoma Associate 31696517
Adenocarcinoma of Lung Associate 31696517
Adenoma Associate 34745849
Adenomatous Polyposis Coli Associate 32521874, 33099905
Asphyxia Associate 32627013
Bowen's Disease Stimulate 28656282
Breast Neoplasms Associate 23017148, 23468877, 26219409, 36077333, 37175840
Breast Neoplasms Stimulate 37681917