Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AQP2 (aquaporin 2 (collecting duct))

Identity

Other namesAQP-CD
WCH-CD
HGNC (Hugo) AQP2
LocusID (NCBI) 359
Location 12q13.12
Location_base_pair Starts at 50344524 and ends at 50352664 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)AQP2   634
Cards
Entrez_Gene (NCBI)AQP2  359  aquaporin 2 (collecting duct)
GeneCards (Weizmann)AQP2
Ensembl (Hinxton)ENSG00000167580 [Gene_View]  chr12:50344524-50352664 [Contig_View]  AQP2 [Vega]
ICGC DataPortalENSG00000167580
cBioPortalAQP2
AceView (NCBI)AQP2
Genatlas (Paris)AQP2
WikiGenes359
SOURCE (Princeton)NM_000486
Genomic and cartography
GoldenPath (UCSC)AQP2  -  12q13.12   chr12:50344524-50352664 +  12q13.12   [Description]    (hg19-Feb_2009)
EnsemblAQP2 - 12q13.12 [CytoView]
Mapping of homologs : NCBIAQP2 [Mapview]
OMIM107777   125800   
Gene and transcription
Genbank (Entrez)AI792401 AK055824 AK225940 BC042496 CR542024
RefSeq transcript (Entrez)NM_000486
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_008913 NT_029419 NW_001838057 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41181 (Uniprot)
NextProtP41181  [Medical]
With graphics : InterProP41181
Splice isoforms : SwissVarP41181 (Swissvar)
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like [organisation]   MIP [organisation]   MIP_CS [organisation]  
Related proteins : CluSTrP41181
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
DMDM Disease mutations359
Blocks (Seattle)P41181
PDB (SRS)4NEF   
PDB (PDBSum)4NEF   
PDB (IMB)4NEF   
PDB (RSDB)4NEF   
Human Protein AtlasENSG00000167580 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP41181
HPRD00141
IPIIPI00012818   IPI01021050   IPI01021169   
Protein Interaction databases
DIP (DOE-UCLA)P41181
IntAct (EBI)P41181
FunCoupENSG00000167580
BioGRIDAQP2
InParanoidP41181
Interologous Interaction database P41181
IntegromeDBAQP2
STRING (EMBL)AQP2
Ontologies - Pathways
Ontology : AmiGOrenal water transport  actin binding  water transmembrane transporter activity  lysosome  early endosome  rough endoplasmic reticulum  trans-Golgi network  plasma membrane  plasma membrane  water transport  water transport  cell volume homeostasis  apoptotic process  hyperosmotic response  female pregnancy  aging  excretion  response to salt stress  response to lithium ion  glycerol transmembrane transporter activity  water channel activity  glycerol transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  apical plasma membrane  actin filament depolymerization  clathrin-coated vesicle  PDZ domain binding  transport vesicle membrane  response to lipopolysaccharide  response to glucagon  response to starvation  cellular response to water deprivation  protein complex  response to calcium ion  positive regulation of calcium ion transport  recycling endosome  transmembrane transport  extracellular vesicular exosome  exocytic vesicle  cellular response to copper ion  cellular response to mercury ion  metanephric collecting duct development  
Ontology : EGO-EBIrenal water transport  actin binding  water transmembrane transporter activity  lysosome  early endosome  rough endoplasmic reticulum  trans-Golgi network  plasma membrane  plasma membrane  water transport  water transport  cell volume homeostasis  apoptotic process  hyperosmotic response  female pregnancy  aging  excretion  response to salt stress  response to lithium ion  glycerol transmembrane transporter activity  water channel activity  glycerol transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  apical plasma membrane  actin filament depolymerization  clathrin-coated vesicle  PDZ domain binding  transport vesicle membrane  response to lipopolysaccharide  response to glucagon  response to starvation  cellular response to water deprivation  protein complex  response to calcium ion  positive regulation of calcium ion transport  recycling endosome  transmembrane transport  extracellular vesicular exosome  exocytic vesicle  cellular response to copper ion  cellular response to mercury ion  metanephric collecting duct development  
Pathways : KEGGVasopressin-regulated water reabsorption   
Protein Interaction DatabaseAQP2
Wikipedia pathwaysAQP2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AQP2
snp3D : Map Gene to Disease359
SNP (GeneSNP Utah)AQP2
SNP : HGBaseAQP2
Genetic variants : HAPMAPAQP2
Exome VariantAQP2
1000_GenomesAQP2 
ICGC programENSG00000167580 
Somatic Mutations in Cancer : COSMICAQP2 
CONAN: Copy Number AnalysisAQP2 
Mutations and Diseases : HGMDAQP2
Genomic VariantsAQP2  AQP2 [DGVbeta]
dbVarAQP2
ClinVarAQP2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM107777    125800   
MedgenAQP2
GENETestsAQP2
Disease Genetic AssociationAQP2
Huge Navigator AQP2 [HugePedia]  AQP2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAQP2
Homology/Alignments : Family Browser (UCSC)AQP2
Phylogenetic Trees/Animal Genes : TreeFamAQP2
Chemical/Protein Interactions : CTD359
Chemical/Pharm GKB GenePA24920
Clinical trialAQP2
Cancer Resource (Charite)ENSG00000167580
Other databases
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
CoreMineAQP2
iHOPAQP2
OncoSearchAQP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:43:15 CEST 2014

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