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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

Donate (in Euros)

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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 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
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)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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    MIP    MIP_CS   
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
Peptide AtlasP41181
HPRD00141
IPIIPI00012818   IPI01021050   IPI01021169   
Protein Interaction databases
DIP (DOE-UCLA)P41181
IntAct (EBI)P41181
FunCoupENSG00000167580
BioGRIDAQP2
IntegromeDBAQP2
STRING (EMBL)AQP2
Ontologies - Pathways
QuickGOP41181
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
DoCM (Curated mutations)AQP2
Wikipedia pathwaysAQP2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAQP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP2
dbVarAQP2
ClinVarAQP2
1000_GenomesAQP2 
Exome Variant ServerAQP2
SNP (GeneSNP Utah)AQP2
SNP : HGBaseAQP2
Genetic variants : HAPMAPAQP2
Genomic Variants (DGV)AQP2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000167580 
Somatic Mutations in Cancer : COSMICAQP2 
CONAN: Copy Number AnalysisAQP2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:50344524-50352664
Mutations and Diseases : HGMDAQP2
OMIM107777    125800   
MedgenAQP2
NextProtP41181 [Medical]
GENETestsAQP2
Disease Genetic AssociationAQP2
Huge Navigator AQP2 [HugePedia]  AQP2 [HugeCancerGEM]
snp3D : Map Gene to Disease359
DGIdb (Drug Gene Interaction db)AQP2
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
GoPubMedAQP2
iHOPAQP2
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 14:41:10 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.