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AQP5 (aquaporin 5)

Identity

Alias (NCBI)AQP-5
PPKB
HGNC (Hugo) AQP5
LocusID (NCBI) 362
Atlas_Id 50455
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49961872 and ends at 49965682 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)AQP5   638
Cards
Entrez_Gene (NCBI)AQP5    aquaporin 5
AliasesAQP-5; PPKB
GeneCards (Weizmann)AQP5
Ensembl hg19 (Hinxton)ENSG00000161798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161798 [Gene_View]  ENSG00000161798 [Sequence]  chr12:49961872-49965682 [Contig_View]  AQP5 [Vega]
ICGC DataPortalENSG00000161798
TCGA cBioPortalAQP5
AceView (NCBI)AQP5
Genatlas (Paris)AQP5
SOURCE (Princeton)AQP5
Genetics Home Reference (NIH)AQP5
Genomic and cartography
GoldenPath hg38 (UCSC)AQP5  -     chr12:49961872-49965682 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP5  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathAQP5 - 12q13.12 [CytoView hg19]  AQP5 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000161798
Genome Data Viewer NCBIAQP5 [Mapview hg19]  
OMIM600231   600442   
Gene and transcription
Genbank (Entrez)BC032946 BP272197 BQ083334 BX095029 CR541989
RefSeq transcript (Entrez)NM_001651
Consensus coding sequences : CCDS (NCBI)AQP5
Gene ExpressionAQP5 [ NCBI-GEO ]   AQP5 [ EBI - ARRAY_EXPRESS ]   AQP5 [ SEEK ]   AQP5 [ MEM ]
Gene Expression Viewer (FireBrowse)AQP5 [ Firebrowse - Broad ]
GenevisibleExpression of AQP5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)362
GTEX Portal (Tissue expression)AQP5
Human Protein AtlasENSG00000161798-AQP5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55064   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55064  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55064
PhosPhoSitePlusP55064
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_5    Aquaporin_transptr    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)AQP5
PDB (RSDB)3D9S    5C5X    5DYE   
PDB Europe3D9S    5C5X    5DYE   
PDB (PDBSum)3D9S    5C5X    5DYE   
PDB (IMB)3D9S    5C5X    5DYE   
Structural Biology KnowledgeBase3D9S    5C5X    5DYE   
SCOP (Structural Classification of Proteins)3D9S    5C5X    5DYE   
CATH (Classification of proteins structures)3D9S    5C5X    5DYE   
SuperfamilyP55064
AlphaFold pdb e-kbP55064   
Human Protein Atlas [tissue]ENSG00000161798-AQP5 [tissue]
HPRD02706
Protein Interaction databases
DIP (DOE-UCLA)P55064
IntAct (EBI)P55064
BioGRIDAQP5
STRING (EMBL)AQP5
ZODIACAQP5
Ontologies - Pathways
QuickGOP55064
Ontology : AmiGOprotein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  microvillus  water transport  water transport  water transport  basal plasma membrane  water channel activity  water channel activity  carbon dioxide transport  carbon dioxide transport  integral component of membrane  apical plasma membrane  apical plasma membrane  pancreatic juice secretion  cytoplasmic vesicle membrane  odontogenesis  identical protein binding  saliva secretion  camera-type eye morphogenesis  protein homotetramerization  transmembrane transport  extracellular exosome  cellular hypotonic response  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  microvillus  water transport  water transport  water transport  basal plasma membrane  water channel activity  water channel activity  carbon dioxide transport  carbon dioxide transport  integral component of membrane  apical plasma membrane  apical plasma membrane  pancreatic juice secretion  cytoplasmic vesicle membrane  odontogenesis  identical protein binding  saliva secretion  camera-type eye morphogenesis  protein homotetramerization  transmembrane transport  extracellular exosome  cellular hypotonic response  
Pathways : KEGGSalivary secretion   
NDEx NetworkAQP5
Atlas of Cancer Signalling NetworkAQP5
Wikipedia pathwaysAQP5
Orthology - Evolution
OrthoDB362
GeneTree (enSembl)ENSG00000161798
Phylogenetic Trees/Animal Genes : TreeFamAQP5
Homologs : HomoloGeneAQP5
Homology/Alignments : Family Browser (UCSC)AQP5
Gene fusions - Rearrangements
Fusion : QuiverAQP5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP5
dbVarAQP5
ClinVarAQP5
MonarchAQP5
1000_GenomesAQP5 
Exome Variant ServerAQP5
GNOMAD BrowserENSG00000161798
Varsome BrowserAQP5
ACMGAQP5 variants
VarityP55064
Genomic Variants (DGV)AQP5 [DGVbeta]
DECIPHERAQP5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQP5 
Mutations
ICGC Data PortalAQP5 
TCGA Data PortalAQP5 
Broad Tumor PortalAQP5
OASIS PortalAQP5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAQP5
Mutations and Diseases : HGMDAQP5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAQP5
DgiDB (Drug Gene Interaction Database)AQP5
DoCM (Curated mutations)AQP5
CIViC (Clinical Interpretations of Variants in Cancer)AQP5
Cancer3DAQP5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600231    600442   
Orphanet2188   
DisGeNETAQP5
MedgenAQP5
Genetic Testing Registry AQP5
NextProtP55064 [Medical]
GENETestsAQP5
Target ValidationAQP5
Huge Navigator AQP5 [HugePedia]
ClinGenAQP5
Clinical trials, drugs, therapy
MyCancerGenomeAQP5
Protein Interactions : CTDAQP5
Pharm GKB GenePA24923
PharosP55064
Clinical trialAQP5
Miscellaneous
canSAR (ICR)AQP5
HarmonizomeAQP5
ARCHS4AQP5
DataMed IndexAQP5
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAQP5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:14:58 CET 2022

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