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AQP5 (aquaporin 5)

Identity

Other aliasAQP-5
PPKB
HGNC (Hugo) AQP5
LocusID (NCBI) 362
Atlas_Id 50455
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49961496 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  362  aquaporin 5
AliasesAQP-5; PPKB
GeneCards (Weizmann)AQP5
Ensembl hg19 (Hinxton)ENSG00000161798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161798 [Gene_View]  chr12:49961496-49965682 [Contig_View]  AQP5 [Vega]
ICGC DataPortalENSG00000161798
TCGA cBioPortalAQP5
AceView (NCBI)AQP5
Genatlas (Paris)AQP5
WikiGenes362
SOURCE (Princeton)AQP5
Genetics Home Reference (NIH)AQP5
Genomic and cartography
GoldenPath hg38 (UCSC)AQP5  -     chr12:49961496-49965682 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP5  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblAQP5 - 12q13.12 [CytoView hg19]  AQP5 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIAQP5 [Mapview hg19]  AQP5 [Mapview hg38]
OMIM600442   
Gene and transcription
Genbank (Entrez)BC032946 BP272197 BQ083334 BX095029 CR541989
RefSeq transcript (Entrez)NM_001651
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AQP5
Cluster EST : UnigeneHs.298023 [ NCBI ]
CGAP (NCI)Hs.298023
Alternative Splicing GalleryENSG00000161798
Gene ExpressionAQP5 [ NCBI-GEO ]   AQP5 [ EBI - ARRAY_EXPRESS ]   AQP5 [ SEEK ]   AQP5 [ MEM ]
Gene Expression Viewer (FireBrowse)AQP5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarP55064
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
DMDM Disease mutations362
Blocks (Seattle)AQP5
PDB (SRS)3D9S    5C5X    5DYE   
PDB (PDBSum)3D9S    5C5X    5DYE   
PDB (IMB)3D9S    5C5X    5DYE   
PDB (RSDB)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
Human Protein Atlas [tissue]ENSG00000161798-AQP5 [tissue]
Peptide AtlasP55064
HPRD02706
IPIIPI00022752   
Protein Interaction databases
DIP (DOE-UCLA)P55064
IntAct (EBI)P55064
FunCoupENSG00000161798
BioGRIDAQP5
STRING (EMBL)AQP5
ZODIACAQP5
Ontologies - Pathways
QuickGOP55064
Ontology : AmiGOprotein binding  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  microvillus  water transport  excretion  basal plasma membrane  water channel activity  water channel activity  carbon dioxide transport  apical plasma membrane  pancreatic juice secretion  ion transmembrane transport  odontogenesis  saliva secretion  camera-type eye morphogenesis  extracellular exosome  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  microvillus  water transport  excretion  basal plasma membrane  water channel activity  water channel activity  carbon dioxide transport  apical plasma membrane  pancreatic juice secretion  ion transmembrane transport  odontogenesis  saliva secretion  camera-type eye morphogenesis  extracellular exosome  
Pathways : KEGGSalivary secretion   
NDEx NetworkAQP5
Atlas of Cancer Signalling NetworkAQP5
Wikipedia pathwaysAQP5
Orthology - Evolution
OrthoDB362
GeneTree (enSembl)ENSG00000161798
Phylogenetic Trees/Animal Genes : TreeFamAQP5
HOVERGENP55064
HOGENOMP55064
Homologs : HomoloGeneAQP5
Homology/Alignments : Family Browser (UCSC)AQP5
Gene fusions - Rearrangements
Fusion: Tumor Portal AQP5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP5
dbVarAQP5
ClinVarAQP5
1000_GenomesAQP5 
Exome Variant ServerAQP5
ExAC (Exome Aggregation Consortium)ENSG00000161798
GNOMAD BrowserENSG00000161798
Genetic variants : HAPMAP362
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]  
Mutations and Diseases : HGMDAQP5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AQP5
DgiDB (Drug Gene Interaction Database)AQP5
DoCM (Curated mutations)AQP5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQP5 (select a term)
intoGenAQP5
Cancer3DAQP5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600442   
Orphanet2188   
MedgenAQP5
Genetic Testing Registry AQP5
NextProtP55064 [Medical]
TSGene362
GENETestsAQP5
Target ValidationAQP5
Huge Navigator AQP5 [HugePedia]
snp3D : Map Gene to Disease362
BioCentury BCIQAQP5
ClinGenAQP5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD362
Chemical/Pharm GKB GenePA24923
Clinical trialAQP5
Miscellaneous
canSAR (ICR)AQP5 (select the gene name)
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQP5
EVEXAQP5
GoPubMedAQP5
iHOPAQP5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:40:39 CET 2017

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