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AQP2 (aquaporin 2 (collecting duct))

Identity

Other namesAQP-CD
WCH-CD
HGNC (Hugo) AQP2
LocusID (NCBI) 359
Atlas_Id 52230
Location 12q13.12
Location_base_pair Starts at 50344524 and ends at 50352664 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
AQP2 12q13.12 / FOXP1 3p13

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)AQP2   634
Cards
Entrez_Gene (NCBI)AQP2  359  aquaporin 2 (collecting duct)
GeneCards (Weizmann)AQP2
Ensembl hg19 (Hinxton)ENSG00000167580 [Gene_View]  chr12:50344524-50352664 [Contig_View]  AQP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167580 [Gene_View]  chr12:50344524-50352664 [Contig_View]  AQP2 [Vega]
ICGC DataPortalENSG00000167580
TCGA cBioPortalAQP2
AceView (NCBI)AQP2
Genatlas (Paris)AQP2
WikiGenes359
SOURCE (Princeton)AQP2
Genomic and cartography
GoldenPath hg19 (UCSC)AQP2  -     chr12:50344524-50352664 +  12q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AQP2  -     12q13.12   [Description]    (hg38-Dec_2013)
EnsemblAQP2 - 12q13.12 [CytoView hg19]  AQP2 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIAQP2 [Mapview hg19]  AQP2 [Mapview hg38]
OMIM107777   125800   
Gene and transcription
Genbank (Entrez)AI792401 AK055824 AK225940 BC042496 CR542024
RefSeq transcript (Entrez)NM_000486
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_008913 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)AQP2
Cluster EST : UnigeneHs.130730 [ NCBI ]
CGAP (NCI)Hs.130730
Alternative Splicing : Fast-db (Paris)GSHG0006644
Alternative Splicing GalleryENSG00000167580
Gene ExpressionAQP2 [ NCBI-GEO ]     AQP2 [ SEEK ]   AQP2 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)359
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41181 (Uniprot)
NextProtP41181  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41181
Splice isoforms : SwissVarP41181 (Swissvar)
PhosPhoSitePlusP41181
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
DMDM Disease mutations359
Blocks (Seattle)AQP2
PDB (SRS)4NEF    4OJ2   
PDB (PDBSum)4NEF    4OJ2   
PDB (IMB)4NEF    4OJ2   
PDB (RSDB)4NEF    4OJ2   
Structural Biology KnowledgeBase4NEF    4OJ2   
SCOP (Structural Classification of Proteins)4NEF    4OJ2   
CATH (Classification of proteins structures)4NEF    4OJ2   
Human Protein AtlasENSG00000167580
Peptide AtlasP41181
HPRD00141
IPIIPI00012818   IPI01021050   IPI01021169   
Protein Interaction databases
DIP (DOE-UCLA)P41181
IntAct (EBI)P41181
FunCoupENSG00000167580
BioGRIDAQP2
IntegromeDBAQP2
STRING (EMBL)AQP2
ZODIACAQP2
Ontologies - Pathways
QuickGOP41181
Ontology : AmiGOrenal water homeostasis  renal water transport  water transmembrane transporter activity  Golgi apparatus  plasma membrane  plasma membrane  water transport  water transport  excretion  glycerol transmembrane transporter activity  water channel activity  glycerol channel activity  glycerol transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  apical plasma membrane  transport vesicle membrane  ion transmembrane transport  cellular response to water deprivation  recycling endosome  transmembrane transport  extracellular exosome  cellular response to copper ion  cellular response to mercury ion  metanephric collecting duct development  
Ontology : EGO-EBIrenal water homeostasis  renal water transport  water transmembrane transporter activity  Golgi apparatus  plasma membrane  plasma membrane  water transport  water transport  excretion  glycerol transmembrane transporter activity  water channel activity  glycerol channel activity  glycerol transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  apical plasma membrane  transport vesicle membrane  ion transmembrane transport  cellular response to water deprivation  recycling endosome  transmembrane transport  extracellular exosome  cellular response to copper ion  cellular response to mercury ion  metanephric collecting duct development  
Pathways : KEGGVasopressin-regulated water reabsorption   
Protein Interaction DatabaseAQP2
Atlas of Cancer Signalling NetworkAQP2
Wikipedia pathwaysAQP2
Orthology - Evolution
OrthoDB359
GeneTree (enSembl)ENSG00000167580
Phylogenetic Trees/Animal Genes : TreeFamAQP2
Homologs : HomoloGeneAQP2
Homology/Alignments : Family Browser (UCSC)AQP2
Gene fusions - Rearrangements
Fusion: TCGAAQP2 12q13.12 FOXP1 3p13 KIRC
Polymorphisms : SNP, variants
NCBI Variation ViewerAQP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP2
dbVarAQP2
ClinVarAQP2
1000_GenomesAQP2 
Exome Variant ServerAQP2
Exome Aggregation Consortium (ExAC)ENSG00000167580
SNP (GeneSNP Utah)AQP2
SNP : HGBaseAQP2
Genetic variants : HAPMAPAQP2
Genomic Variants (DGV)AQP2 [DGVbeta]
Mutations
ICGC Data PortalAQP2 
TCGA Data PortalAQP2 
Tumor PortalAQP2
TCGA Copy Number PortalAQP2
Somatic Mutations in Cancer : COSMICAQP2 
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch AQP2
DgiDB (Drug Gene Interaction Database)AQP2
DoCM (Curated mutations)AQP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQP2 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:50344524-50352664
CONAN: Copy Number AnalysisAQP2 
Mutations and Diseases : HGMDAQP2
OMIM107777    125800   
MedgenAQP2
NextProtP41181 [Medical]
TSGene359
GENETestsAQP2
Huge Navigator AQP2 [HugePedia]  AQP2 [HugeCancerGEM]
snp3D : Map Gene to Disease359
BioCentury BCIQAQP2
General knowledge
Chemical/Protein Interactions : CTD359
Chemical/Pharm GKB GenePA24920
Clinical trialAQP2
Other databases
Probes
Litterature
PubMed121 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQP2
GoPubMedAQP2
iHOPAQP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 18:08:35 CET 2016

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