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AQP12A (aquaporin 12A)

Identity

Alias (NCBI)AQP-12
AQP12
AQPX2
HGNC (Hugo) AQP12A
HGNC Previous nameAQP12
HGNC Previous nameaquaporin 12
LocusID (NCBI) 375318
Atlas_Id 60442
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 240691866 and ends at 240698483 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)AQP12A   19941
Cards
Entrez_Gene (NCBI)AQP12A    aquaporin 12A
AliasesAQP-12; AQP12; AQPX2
GeneCards (Weizmann)AQP12A
Ensembl hg19 (Hinxton)ENSG00000184945 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184945 [Gene_View]  ENSG00000184945 [Sequence]  chr2:240691866-240698483 [Contig_View]  AQP12A [Vega]
ICGC DataPortalENSG00000184945
TCGA cBioPortalAQP12A
AceView (NCBI)AQP12A
Genatlas (Paris)AQP12A
SOURCE (Princeton)AQP12A
Genetics Home Reference (NIH)AQP12A
Genomic and cartography
GoldenPath hg38 (UCSC)AQP12A  -     chr2:240691866-240698483 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP12A  -     2q37.3   [Description]    (hg19-Feb_2009)
GoldenPathAQP12A - 2q37.3 [CytoView hg19]  AQP12A - 2q37.3 [CytoView hg38]
ImmunoBaseENSG00000184945
Genome Data Viewer NCBIAQP12A [Mapview hg19]  
OMIM609789   
Gene and transcription
Genbank (Entrez)AB040748
RefSeq transcript (Entrez)NM_198998
Consensus coding sequences : CCDS (NCBI)AQP12A
Gene ExpressionAQP12A [ NCBI-GEO ]   AQP12A [ EBI - ARRAY_EXPRESS ]   AQP12A [ SEEK ]   AQP12A [ MEM ]
Gene Expression Viewer (FireBrowse)AQP12A [ Firebrowse - Broad ]
GenevisibleExpression of AQP12A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375318
GTEX Portal (Tissue expression)AQP12A
Human Protein AtlasENSG00000184945-AQP12A [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ8IXF9
AlphaFold pdb e-kbQ8IXF9   
Human Protein Atlas [tissue]ENSG00000184945-AQP12A [tissue]
HPRD16504
Protein Interaction databases
DIP (DOE-UCLA)Q8IXF9
IntAct (EBI)Q8IXF9
BioGRIDAQP12A
STRING (EMBL)AQP12A
ZODIACAQP12A
Ontologies - Pathways
QuickGOQ8IXF9
Ontology : AmiGOcytoplasm  channel activity  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIcytoplasm  channel activity  integral component of membrane  transmembrane transport  
NDEx NetworkAQP12A
Atlas of Cancer Signalling NetworkAQP12A
Wikipedia pathwaysAQP12A
Orthology - Evolution
OrthoDB375318
GeneTree (enSembl)ENSG00000184945
Phylogenetic Trees/Animal Genes : TreeFamAQP12A
Homologs : HomoloGeneAQP12A
Homology/Alignments : Family Browser (UCSC)AQP12A
Gene fusions - Rearrangements
Fusion : QuiverAQP12A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP12A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP12A
dbVarAQP12A
ClinVarAQP12A
MonarchAQP12A
1000_GenomesAQP12A 
Exome Variant ServerAQP12A
GNOMAD BrowserENSG00000184945
Varsome BrowserAQP12A
ACMGAQP12A variants
VarityQ8IXF9
Genomic Variants (DGV)AQP12A [DGVbeta]
DECIPHERAQP12A [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DAQP12A
Mutations and Diseases : HGMDAQP12A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAQP12A
DgiDB (Drug Gene Interaction Database)AQP12A
DoCM (Curated mutations)AQP12A
CIViC (Clinical Interpretations of Variants in Cancer)AQP12A
Cancer3DAQP12A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609789   
Orphanet
DisGeNETAQP12A
MedgenAQP12A
Genetic Testing Registry AQP12A
NextProtQ8IXF9 [Medical]
GENETestsAQP12A
Target ValidationAQP12A
Huge Navigator AQP12A [HugePedia]
ClinGenAQP12A
Clinical trials, drugs, therapy
MyCancerGenomeAQP12A
Protein Interactions : CTDAQP12A
Pharm GKB GenePA134977417
PharosQ8IXF9
Clinical trialAQP12A
Miscellaneous
canSAR (ICR)AQP12A
HarmonizomeAQP12A
ARCHS4AQP12A
DataMed IndexAQP12A
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAQP12A
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 13:10:56 CET 2022

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