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AQP12A (aquaporin 12A)

Identity

Alias_namesAQP12
aquaporin 12
Other aliasAQP-12
AQPX2
HGNC (Hugo) AQP12A
LocusID (NCBI) 375318
Atlas_Id 60442
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 241631262 and ends at 241637900 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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AQP12A   19941
Cards
Entrez_Gene (NCBI)AQP12A  375318  aquaporin 12A
AliasesAQP-12; AQP12; AQPX2
GeneCards (Weizmann)AQP12A
Ensembl hg19 (Hinxton)ENSG00000184945 [Gene_View]  chr2:241631262-241637900 [Contig_View]  AQP12A [Vega]
Ensembl hg38 (Hinxton)ENSG00000184945 [Gene_View]  chr2:241631262-241637900 [Contig_View]  AQP12A [Vega]
ICGC DataPortalENSG00000184945
TCGA cBioPortalAQP12A
AceView (NCBI)AQP12A
Genatlas (Paris)AQP12A
WikiGenes375318
SOURCE (Princeton)AQP12A
Genetics Home Reference (NIH)AQP12A
Genomic and cartography
GoldenPath hg19 (UCSC)AQP12A  -     chr2:241631262-241637900 +  2q37.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AQP12A  -     2q37.3   [Description]    (hg38-Dec_2013)
EnsemblAQP12A - 2q37.3 [CytoView hg19]  AQP12A - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBIAQP12A [Mapview hg19]  AQP12A [Mapview hg38]
OMIM609789   
Gene and transcription
Genbank (Entrez)AB040748 BC172337
RefSeq transcript (Entrez)NM_198998
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929308
Consensus coding sequences : CCDS (NCBI)AQP12A
Cluster EST : UnigeneHs.534650 [ NCBI ]
CGAP (NCI)Hs.534650
Alternative Splicing GalleryENSG00000184945
Gene ExpressionAQP12A [ NCBI-GEO ]   AQP12A [ EBI - ARRAY_EXPRESS ]   AQP12A [ SEEK ]   AQP12A [ MEM ]
Gene Expression Viewer (FireBrowse)AQP12A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375318
GTEX Portal (Tissue expression)AQP12A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IXF9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IXF9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IXF9
Splice isoforms : SwissVarQ8IXF9
PhosPhoSitePlusQ8IXF9
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_11/12    Aquaporin_12    MIP   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)AQP12A
DMDM Disease mutations375318
Blocks (Seattle)AQP12A
SuperfamilyQ8IXF9
Human Protein AtlasENSG00000184945
Peptide AtlasQ8IXF9
HPRD16504
IPIIPI00478533   IPI00939550   IPI00743951   IPI00892881   
Protein Interaction databases
DIP (DOE-UCLA)Q8IXF9
IntAct (EBI)Q8IXF9
FunCoupENSG00000184945
BioGRIDAQP12A
STRING (EMBL)AQP12A
ZODIACAQP12A
Ontologies - Pathways
QuickGOQ8IXF9
Ontology : AmiGOtransporter activity  transport  integral component of membrane  
Ontology : EGO-EBItransporter activity  transport  integral component of membrane  
NDEx NetworkAQP12A
Atlas of Cancer Signalling NetworkAQP12A
Wikipedia pathwaysAQP12A
Orthology - Evolution
OrthoDB375318
GeneTree (enSembl)ENSG00000184945
Phylogenetic Trees/Animal Genes : TreeFamAQP12A
HOVERGENQ8IXF9
HOGENOMQ8IXF9
Homologs : HomoloGeneAQP12A
Homology/Alignments : Family Browser (UCSC)AQP12A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP12A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP12A
dbVarAQP12A
ClinVarAQP12A
1000_GenomesAQP12A 
Exome Variant ServerAQP12A
ExAC (Exome Aggregation Consortium)AQP12A (select the gene name)
Genetic variants : HAPMAP375318
Genomic Variants (DGV)AQP12A [DGVbeta]
DECIPHER (Syndromes)2:241631262-241637900  ENSG00000184945
CONAN: Copy Number AnalysisAQP12A 
Mutations
ICGC Data PortalAQP12A 
TCGA Data PortalAQP12A 
Broad Tumor PortalAQP12A
OASIS PortalAQP12A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP12A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAQP12A
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 AQP12A
DgiDB (Drug Gene Interaction Database)AQP12A
DoCM (Curated mutations)AQP12A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQP12A (select a term)
intoGenAQP12A
Cancer3DAQP12A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609789   
Orphanet
MedgenAQP12A
Genetic Testing Registry AQP12A
NextProtQ8IXF9 [Medical]
TSGene375318
GENETestsAQP12A
Huge Navigator AQP12A [HugePedia]
snp3D : Map Gene to Disease375318
BioCentury BCIQAQP12A
ClinGenAQP12A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375318
Chemical/Pharm GKB GenePA134977417
Clinical trialAQP12A
Miscellaneous
canSAR (ICR)AQP12A (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQP12A
EVEXAQP12A
GoPubMedAQP12A
iHOPAQP12A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:54:47 CET 2017

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