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AQP6 (aquaporin 6)

Identity

Alias (NCBI)AQP2L
KID
HGNC (Hugo) AQP6
HGNC Previous nameAQP2L
HGNC Previous nameaquaporin 6, kidney specific
LocusID (NCBI) 363
Atlas_Id 56674
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49972947 and ends at 49977139 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)AQP6   639
Cards
Entrez_Gene (NCBI)AQP6    aquaporin 6
AliasesAQP2L; KID
GeneCards (Weizmann)AQP6
Ensembl hg19 (Hinxton)ENSG00000086159 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086159 [Gene_View]  ENSG00000086159 [Sequence]  chr12:49972947-49977139 [Contig_View]  AQP6 [Vega]
ICGC DataPortalENSG00000086159
TCGA cBioPortalAQP6
AceView (NCBI)AQP6
Genatlas (Paris)AQP6
SOURCE (Princeton)AQP6
Genetics Home Reference (NIH)AQP6
Genomic and cartography
GoldenPath hg38 (UCSC)AQP6  -     chr12:49972947-49977139 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP6  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathAQP6 - 12q13.12 [CytoView hg19]  AQP6 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000086159
Genome Data Viewer NCBIAQP6 [Mapview hg19]  
OMIM601383   
Gene and transcription
Genbank (Entrez)AL137716 BC065275 U48408
RefSeq transcript (Entrez)NM_001652 NM_053286
Consensus coding sequences : CCDS (NCBI)AQP6
Gene ExpressionAQP6 [ NCBI-GEO ]   AQP6 [ EBI - ARRAY_EXPRESS ]   AQP6 [ SEEK ]   AQP6 [ MEM ]
Gene Expression Viewer (FireBrowse)AQP6 [ Firebrowse - Broad ]
GenevisibleExpression of AQP6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)363
GTEX Portal (Tissue expression)AQP6
Human Protein AtlasENSG00000086159-AQP6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13520   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13520  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13520
PhosPhoSitePlusQ13520
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_6    Aquaporin_transptr    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)AQP6
PDB (RSDB)1S6E   
PDB Europe1S6E   
PDB (PDBSum)1S6E   
PDB (IMB)1S6E   
Structural Biology KnowledgeBase1S6E   
SCOP (Structural Classification of Proteins)1S6E   
CATH (Classification of proteins structures)1S6E   
SuperfamilyQ13520
AlphaFold pdb e-kbQ13520   
Human Protein Atlas [tissue]ENSG00000086159-AQP6 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q13520
IntAct (EBI)Q13520
BioGRIDAQP6
STRING (EMBL)AQP6
ZODIACAQP6
Ontologies - Pathways
QuickGOQ13520
Ontology : AmiGOprotein binding  plasma membrane  integral component of plasma membrane  water transport  excretion  nitrate transmembrane transporter activity  water channel activity  carbon dioxide transport  nitrate transport  integral component of membrane  apical plasma membrane  cytoplasmic vesicle membrane  odontogenesis  transmembrane transport  
Ontology : EGO-EBIprotein binding  plasma membrane  integral component of plasma membrane  water transport  excretion  nitrate transmembrane transporter activity  water channel activity  carbon dioxide transport  nitrate transport  integral component of membrane  apical plasma membrane  cytoplasmic vesicle membrane  odontogenesis  transmembrane transport  
NDEx NetworkAQP6
Atlas of Cancer Signalling NetworkAQP6
Wikipedia pathwaysAQP6
Orthology - Evolution
OrthoDB363
GeneTree (enSembl)ENSG00000086159
Phylogenetic Trees/Animal Genes : TreeFamAQP6
Homologs : HomoloGeneAQP6
Homology/Alignments : Family Browser (UCSC)AQP6
Gene fusions - Rearrangements
Fusion : QuiverAQP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP6
dbVarAQP6
ClinVarAQP6
MonarchAQP6
1000_GenomesAQP6 
Exome Variant ServerAQP6
GNOMAD BrowserENSG00000086159
Varsome BrowserAQP6
ACMGAQP6 variants
VarityQ13520
Genomic Variants (DGV)AQP6 [DGVbeta]
DECIPHERAQP6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQP6 
Mutations
ICGC Data PortalAQP6 
TCGA Data PortalAQP6 
Broad Tumor PortalAQP6
OASIS PortalAQP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAQP6
Mutations and Diseases : HGMDAQP6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAQP6
DgiDB (Drug Gene Interaction Database)AQP6
DoCM (Curated mutations)AQP6
CIViC (Clinical Interpretations of Variants in Cancer)AQP6
Cancer3DAQP6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601383   
Orphanet
DisGeNETAQP6
MedgenAQP6
Genetic Testing Registry AQP6
NextProtQ13520 [Medical]
GENETestsAQP6
Target ValidationAQP6
Huge Navigator AQP6 [HugePedia]
ClinGenAQP6
Clinical trials, drugs, therapy
MyCancerGenomeAQP6
Protein Interactions : CTDAQP6
Pharm GKB GenePA24924
PharosQ13520
Clinical trialAQP6
Miscellaneous
canSAR (ICR)AQP6
HarmonizomeAQP6
ARCHS4AQP6
DataMed IndexAQP6
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAQP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:55 CET 2022

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