Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AQP3 (aquaporin 3 (Gill blood group))

Identity

Alias (NCBI)AQP-3
GIL
HGNC (Hugo) AQP3
HGNC Alias symbGIL
HGNC Alias nameGill blood group
HGNC Previous nameaquaporin 3
 aquaporin 3 (GIL blood group)
LocusID (NCBI) 360
Atlas_Id 43738
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 33441161 and ends at 33447593 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)
TMED9 (5q35.3) / AQP3 (9p13.3)

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)AQP3   636
LRG (Locus Reference Genomic)LRG_821
Cards
Entrez_Gene (NCBI)AQP3  360  aquaporin 3 (Gill blood group)
AliasesAQP-3; GIL
GeneCards (Weizmann)AQP3
Ensembl hg19 (Hinxton)ENSG00000165272 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165272 [Gene_View]  ENSG00000165272 [Sequence]  chr9:33441161-33447593 [Contig_View]  AQP3 [Vega]
ICGC DataPortalENSG00000165272
TCGA cBioPortalAQP3
AceView (NCBI)AQP3
Genatlas (Paris)AQP3
WikiGenes360
SOURCE (Princeton)AQP3
Genetics Home Reference (NIH)AQP3
Genomic and cartography
GoldenPath hg38 (UCSC)AQP3  -     chr9:33441161-33447593 -  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP3  -     9p13.3   [Description]    (hg19-Feb_2009)
GoldenPathAQP3 - 9p13.3 [CytoView hg19]  AQP3 - 9p13.3 [CytoView hg38]
ImmunoBaseENSG00000165272
genome Data Viewer NCBIAQP3 [Mapview hg19]  
OMIM600170   607457   
Gene and transcription
Genbank (Entrez)AB001325 AJ493597 AK095363 AK292208 AK303206
RefSeq transcript (Entrez)NM_001318144 NM_004925
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AQP3
Alternative Splicing GalleryENSG00000165272
Gene ExpressionAQP3 [ NCBI-GEO ]   AQP3 [ EBI - ARRAY_EXPRESS ]   AQP3 [ SEEK ]   AQP3 [ MEM ]
Gene Expression Viewer (FireBrowse)AQP3 [ Firebrowse - Broad ]
GenevisibleExpression of AQP3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)360
GTEX Portal (Tissue expression)AQP3
Human Protein AtlasENSG00000165272-AQP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92482   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92482  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92482
Splice isoforms : SwissVarQ92482
PhosPhoSitePlusQ92482
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_3    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)AQP3
DMDM Disease mutations360
Blocks (Seattle)AQP3
SuperfamilyQ92482
Human Protein Atlas [tissue]ENSG00000165272-AQP3 [tissue]
Peptide AtlasQ92482
HPRD08970
IPIIPI00021558   IPI00216545   IPI00952886   
Protein Interaction databases
DIP (DOE-UCLA)Q92482
IntAct (EBI)Q92482
FunCoupENSG00000165272
BioGRIDAQP3
STRING (EMBL)AQP3
ZODIACAQP3
Ontologies - Pathways
QuickGOQ92482
Ontology : AmiGOpositive regulation of immune system process  renal water homeostasis  nucleoplasm  cytoplasm  plasma membrane  plasma membrane  cell-cell junction  water transport  water transport  urea transmembrane transporter activity  water channel activity  water channel activity  water channel activity  glycerol channel activity  glycerol transport  integral component of membrane  basolateral plasma membrane  response to retinoic acid  response to vitamin D  odontogenesis  regulation of keratinocyte differentiation  response to calcium ion  renal water absorption  cellular response to hypoxia  urea transmembrane transport  cellular response to oxygen-glucose deprivation  
Ontology : EGO-EBIpositive regulation of immune system process  renal water homeostasis  nucleoplasm  cytoplasm  plasma membrane  plasma membrane  cell-cell junction  water transport  water transport  urea transmembrane transporter activity  water channel activity  water channel activity  water channel activity  glycerol channel activity  glycerol transport  integral component of membrane  basolateral plasma membrane  response to retinoic acid  response to vitamin D  odontogenesis  regulation of keratinocyte differentiation  response to calcium ion  renal water absorption  cellular response to hypoxia  urea transmembrane transport  cellular response to oxygen-glucose deprivation  
Pathways : KEGGVasopressin-regulated water reabsorption   
NDEx NetworkAQP3
Atlas of Cancer Signalling NetworkAQP3
Wikipedia pathwaysAQP3
Orthology - Evolution
OrthoDB360
GeneTree (enSembl)ENSG00000165272
Phylogenetic Trees/Animal Genes : TreeFamAQP3
HOGENOMQ92482
Homologs : HomoloGeneAQP3
Homology/Alignments : Family Browser (UCSC)AQP3
Gene fusions - Rearrangements
Fusion Cancer (Beijing)TMED9 [5q35.3]  -  AQP3 [9p13.3]  [FUSC002440]
Fusion : QuiverAQP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP3
dbVarAQP3
ClinVarAQP3
1000_GenomesAQP3 
Exome Variant ServerAQP3
GNOMAD BrowserENSG00000165272
Varsome BrowserAQP3
Genetic variants : HAPMAP360
Genomic Variants (DGV)AQP3 [DGVbeta]
DECIPHERAQP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQP3 
Mutations
ICGC Data PortalAQP3 
TCGA Data PortalAQP3 
Broad Tumor PortalAQP3
OASIS PortalAQP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAQP3
Mutations and Diseases : HGMDAQP3
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 AQP3
DgiDB (Drug Gene Interaction Database)AQP3
DoCM (Curated mutations)AQP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQP3 (select a term)
intoGenAQP3
Cancer3DAQP3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600170    607457   
Orphanet
DisGeNETAQP3
MedgenAQP3
Genetic Testing Registry AQP3
NextProtQ92482 [Medical]
TSGene360
GENETestsAQP3
Target ValidationAQP3
Huge Navigator AQP3 [HugePedia]
snp3D : Map Gene to Disease360
BioCentury BCIQAQP3
ClinGenAQP3
Clinical trials, drugs, therapy
Protein Interactions : CTD360
Pharm GKB GenePA24921
Clinical trialAQP3
Miscellaneous
canSAR (ICR)AQP3 (select the gene name)
HarmonizomeAQP3
DataMed IndexAQP3
Probes
Litterature
PubMed181 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQP3
EVEXAQP3
GoPubMedAQP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:03:30 CEST 2020
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