Gene Gene information from NCBI Gene database.
Entrez ID 366
Gene name Aquaporin 9
Gene symbol AQP9
Synonyms (NCBI Gene)
AQP-9HsT17287SSC1T17287
Chromosome 15
Chromosome location 15q21.3
Summary The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and
miRNA miRNA information provided by mirtarbase database.
188
miRTarBase ID miRNA Experiments Reference
MIRT791576 hsa-miR-18a CLIP-seq
MIRT791577 hsa-miR-18b CLIP-seq
MIRT791578 hsa-miR-300 CLIP-seq
MIRT791579 hsa-miR-3136-5p CLIP-seq
MIRT791580 hsa-miR-324-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005345 Function Purine nucleobase transmembrane transporter activity ISS
GO:0005350 Function Pyrimidine nucleobase transmembrane transporter activity ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 9514918
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602914 643 ENSG00000103569
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43315
Protein name Aquaporin-9 (AQP-9) (Aquaglyceroporin-9) (Small solute channel 1)
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:10564231, PubMed:30420639, PubMed:35054513, PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 17 262 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in peripheral leukocytes. Also expressed in liver, lung, and spleen. {ECO:0000269|PubMed:10564231, ECO:0000269|PubMed:9514918}.
Sequence
Sequence length 295
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neutrophil extracellular trap formation
Bile secretion
  Transport of glycerol from adipocytes to the liver by Aquaporins
Passive transport by Aquaporins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
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
JUVENILE CHRONIC POLYARTHRITIS 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
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 16968895
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 16968895
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 16968895
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11972053, 23563754
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia CTD_human_DG 23563754
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 27329843
★☆☆☆☆
Found in Text Mining only
Arsenic Encephalopathy Arsenic Encephalopathy CTD_human_DG 19805235
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27026296 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 29485906 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 30344749
★☆☆☆☆
Found in Text Mining only