Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AQP12B (aquaporin 12B)

Identity

Alias (NCBI)INSSA3
HGNC (Hugo) AQP12B
HGNC Previous nameINSSA3
HGNC Previous nameinsulin synthesis associated 3
LocusID (NCBI) 653437
Atlas_Id 60443
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 240676418 and ends at 240682885 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)AQP12B   6096
Cards
Entrez_Gene (NCBI)AQP12B    aquaporin 12B
AliasesINSSA3
GeneCards (Weizmann)AQP12B
Ensembl hg19 (Hinxton)ENSG00000185176 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185176 [Gene_View]  ENSG00000185176 [Sequence]  chr2:240676418-240682885 [Contig_View]  AQP12B [Vega]
ICGC DataPortalENSG00000185176
TCGA cBioPortalAQP12B
AceView (NCBI)AQP12B
Genatlas (Paris)AQP12B
SOURCE (Princeton)AQP12B
Genetics Home Reference (NIH)AQP12B
Genomic and cartography
GoldenPath hg38 (UCSC)AQP12B  -     chr2:240676418-240682885 -  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP12B  -     2q37.3   [Description]    (hg19-Feb_2009)
GoldenPathAQP12B - 2q37.3 [CytoView hg19]  AQP12B - 2q37.3 [CytoView hg38]
ImmunoBaseENSG00000185176
Genome Data Viewer NCBIAQP12B [Mapview hg19]  
Gene and transcription
Genbank (Entrez)BC041460 BC139748 BC157895 BC171912
RefSeq transcript (Entrez)NM_001102467
Consensus coding sequences : CCDS (NCBI)AQP12B
Gene ExpressionAQP12B [ NCBI-GEO ]   AQP12B [ EBI - ARRAY_EXPRESS ]   AQP12B [ SEEK ]   AQP12B [ MEM ]
Gene Expression Viewer (FireBrowse)AQP12B [ Firebrowse - Broad ]
GenevisibleExpression of AQP12B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)653437
GTEX Portal (Tissue expression)AQP12B
Human Protein AtlasENSG00000185176-AQP12B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NM10   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NM10  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NM10
PhosPhoSitePlusA6NM10
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)AQP12B
SuperfamilyA6NM10
AlphaFold pdb e-kbA6NM10   
Human Protein Atlas [tissue]ENSG00000185176-AQP12B [tissue]
Protein Interaction databases
DIP (DOE-UCLA)A6NM10
IntAct (EBI)A6NM10
BioGRIDAQP12B
STRING (EMBL)AQP12B
ZODIACAQP12B
Ontologies - Pathways
QuickGOA6NM10
Ontology : AmiGOcytoplasm  channel activity  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIcytoplasm  channel activity  integral component of membrane  transmembrane transport  
NDEx NetworkAQP12B
Atlas of Cancer Signalling NetworkAQP12B
Wikipedia pathwaysAQP12B
Orthology - Evolution
OrthoDB653437
GeneTree (enSembl)ENSG00000185176
Phylogenetic Trees/Animal Genes : TreeFamAQP12B
Homologs : HomoloGeneAQP12B
Homology/Alignments : Family Browser (UCSC)AQP12B
Gene fusions - Rearrangements
Fusion : QuiverAQP12B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP12B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP12B
dbVarAQP12B
ClinVarAQP12B
MonarchAQP12B
1000_GenomesAQP12B 
Exome Variant ServerAQP12B
GNOMAD BrowserENSG00000185176
Varsome BrowserAQP12B
ACMGAQP12B variants
VarityA6NM10
Genomic Variants (DGV)AQP12B [DGVbeta]
DECIPHERAQP12B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQP12B 
Mutations
ICGC Data PortalAQP12B 
TCGA Data PortalAQP12B 
Broad Tumor PortalAQP12B
OASIS PortalAQP12B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP12B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAQP12B
Mutations and Diseases : HGMDAQP12B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAQP12B
DgiDB (Drug Gene Interaction Database)AQP12B
DoCM (Curated mutations)AQP12B
CIViC (Clinical Interpretations of Variants in Cancer)AQP12B
Cancer3DAQP12B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETAQP12B
MedgenAQP12B
Genetic Testing Registry AQP12B
NextProtA6NM10 [Medical]
GENETestsAQP12B
Target ValidationAQP12B
Huge Navigator AQP12B [HugePedia]
ClinGenAQP12B
Clinical trials, drugs, therapy
MyCancerGenomeAQP12B
Protein Interactions : CTDAQP12B
Pharm GKB GenePA29902
PharosA6NM10
Clinical trialAQP12B
Miscellaneous
canSAR (ICR)AQP12B
HarmonizomeAQP12B
ARCHS4AQP12B
DataMed IndexAQP12B
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAQP12B
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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