Gene Gene information from NCBI Gene database.
Entrez ID 360
Gene name Aquaporin 3 (Gill blood group)
Gene symbol AQP3
Synonyms (NCBI Gene)
AQP-3GIL
Chromosome 9
Chromosome location 9p13.3
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs1347380973 C>G,T Affects Splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT040256 hsa-miR-615-3p CLASH 23622248
MIRT053376 hsa-miR-874-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23800944
MIRT053376 hsa-miR-874-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23800944
MIRT053376 hsa-miR-874-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23800944
MIRT053376 hsa-miR-874-3p Luciferase reporter assayqRT-PCRWestern blot 24462679
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
CREB1 Unknown 18495115
TP53 Unknown 11231003
TP73 Unknown 11231003
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600170 636 ENSG00000165272
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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)
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
AQP3-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA GWAS catalog
★★☆☆☆
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
Actinic keratosis Actinic keratosis BEFREE 28656282
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17056099, 31696517
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17056099
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17056099, 31696517
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 22576684
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 22576684
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 18435676
★☆☆☆☆
Found in Text Mining only
Anemia Anemia LHGDN 18435676
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28377226, 30531392
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 22576684
★☆☆☆☆
Found in Text Mining only