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Gene Gene information from NCBI Gene database.
Entrez ID 363
Gene name Aquaporin 6
Gene symbol AQP6
Synonyms (NCBI Gene)
AQP2LKID
Chromosome 12
Chromosome location 12q13.12
Summary The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidne
miRNA miRNA information provided by mirtarbase database.
836 Show/Hide all (836)
miRTarBase ID miRNA Experiments Reference
MIRT620328 hsa-miR-890 HITS-CLIP 23824327
MIRT620327 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT620326 hsa-miR-6893-5p HITS-CLIP 23824327
MIRT620325 hsa-miR-940 HITS-CLIP 23824327
MIRT620324 hsa-miR-3929 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22 Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0003097 Process Renal water transport IDA 8812490
GO:0005253 Function Monoatomic anion channel activity ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0008519 Function Ammonium channel activity ISS
GO:0015112 Function Nitrate transmembrane transporter activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601383 639 ENSG00000086159
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13520
Protein name Aquaporin-6 (AQP-6) (Aquaporin-2-like) (Kidney-specific aquaporin) (hKID)
Protein function Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:8812490). Unlike classical aquaporins, AQP6 is an intracellular channe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 17 → 231 Major intrinsic protein Family
Sequence
Sequence length 282
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Reference Evidence Score
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (28)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 20461409
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 30204287
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31146170
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 21751151
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 20462447 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 30204287
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30259389
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia BEFREE 31372730
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital ichthyosis Congenital Ichthyosis BEFREE 16679758, 1951425
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 31842654
★★★★★
★☆☆☆☆
Found in Text Mining only