Gene Gene information from NCBI Gene database.
Entrez ID 282679
Gene name Aquaporin 11
Gene symbol AQP11
Synonyms (NCBI Gene)
AQPX1
Chromosome 11
Chromosome location 11q14.1
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT019715 hsa-miR-375 Microarray 20215506
MIRT791365 hsa-miR-103a CLIP-seq
MIRT791366 hsa-miR-107 CLIP-seq
MIRT791367 hsa-miR-1253 CLIP-seq
MIRT791368 hsa-miR-128 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IDA 24918044, 31546170
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609914 19940 ENSG00000178301
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NBQ7
Protein name Aquaporin-11 (AQP-11)
Protein function Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain (PubMed:24845055, PubMed:2491804
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 69 254 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in the sperm head and tail (at protein level) (PubMed:28042826). Expressed in subcutaneous adipocytes (PubMed:24845055). Expressed in testis, kidney and ejaculated spermatozoa (PubMed:19812234). {ECO:0000269|PubMed:19812234, E
Sequence
Sequence length 271
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Passive transport by Aquaporins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES 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
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36254092 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 30010847
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 26719361 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 26719361, 32512939 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30010847
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 26719361 Associate
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 30010847
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 35528520 Associate
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia Pubtator 26719361 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney Disease BEFREE 26719361, 30010847
★☆☆☆☆
Found in Text Mining only