AQP5 (aquaporin 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 362
Gene name Aquaporin 5
Gene symbol AQP5
Synonyms (NCBI Gene)
AQP-5PPKB
Chromosome 12
Chromosome location 12q13.12
Summary Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, A
miRNA miRNA information provided by mirtarbase database.
20
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
miRTarBase ID miRNA Experiments Reference
MIRT018488 hsa-miR-335-5p Microarray 18185580
MIRT736082 hsa-miR-1271-5p Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCR 33760167
MIRT737185 hsa-miR-19b-3p Luciferase reporter assayqRT-PCR 31922312
MIRT791541 hsa-miR-1258 CLIP-seq
MIRT791542 hsa-miR-3152-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 26569106
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600442 638 ENSG00000161798
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55064
Protein name Aquaporin-5 (AQP-5)
Protein function Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489). Plays an important role in fluid secretion
PDB 3D9S , 5C5X , 5DYE , 7STC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 4 → 221 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in skin eccrine sweat glands, at the apical cell membrane and at intercellular canaliculi (at protein level). {ECO:0000269|PubMed:23473857}.
Sequence
Sequence length 265
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Salivary secretion   Passive transport by Aquaporins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Palmoplantar keratoderma, Bothnian type Likely pathogenic; Pathogenic rs745563552, rs398123054, rs398123055, rs398123056, rs398123057 RCV001647329
RCV000055668
RCV000055670
RCV000055671
RCV000055672
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
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
AQP5-related disorder Conflicting classifications of pathogenicity; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFUSE PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE — CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (122)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 30219663
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29106595
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 22576684
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30304036
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 16242760
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22145049, 27978515, 28958942, 29384694, 31277235
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22145049, 36468842, 36706090, 37681917, 40244097 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 21237499
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchitis Bronchitis Pubtator 26569106 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23436048, 24224160 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only