Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC12A2 (solute carrier family 12 member 2)

Identity

Alias_namessolute carrier family 12 (sodium/potassium/chloride transporter)
Alias_symbol (synonym)NKCC1
BSC
BSC2
PPP1R141
Other alias
HGNC (Hugo) SLC12A2
LocusID (NCBI) 6558
Atlas_Id 46190
Location 5q23.3  [Link to chromosome band 5q23]
Location_base_pair Starts at 128083791 and ends at 128189688 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FOPNL (16p13.11) / SLC12A2 (5q23.3)MAP2K6 (17q24.3) / SLC12A2 (5q23.3)SLC12A2 (5q23.3) / AKIRIN1 (1p34.3)
SLC12A2 (5q23.3) / ATF5 (19q13.33)SLC12A2 (5q23.3) / SLC12A2 (5q23.3)SLC12A2 (5q23.3) / ZC3H14 (14q31.3)

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)SLC12A2   10911
Cards
Entrez_Gene (NCBI)SLC12A2  6558  solute carrier family 12 member 2
AliasesBSC; BSC2; NKCC1; PPP1R141
GeneCards (Weizmann)SLC12A2
Ensembl hg19 (Hinxton)ENSG00000064651 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064651 [Gene_View]  chr5:128083791-128189688 [Contig_View]  SLC12A2 [Vega]
ICGC DataPortalENSG00000064651
TCGA cBioPortalSLC12A2
AceView (NCBI)SLC12A2
Genatlas (Paris)SLC12A2
WikiGenes6558
SOURCE (Princeton)SLC12A2
Genetics Home Reference (NIH)SLC12A2
Genomic and cartography
GoldenPath hg38 (UCSC)SLC12A2  -     chr5:128083791-128189688 +  5q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC12A2  -     5q23.3   [Description]    (hg19-Feb_2009)
EnsemblSLC12A2 - 5q23.3 [CytoView hg19]  SLC12A2 - 5q23.3 [CytoView hg38]
Mapping of homologs : NCBISLC12A2 [Mapview hg19]  SLC12A2 [Mapview hg38]
OMIM600840   
Gene and transcription
Genbank (Entrez)AA425438 AA425619 AA843086 AB209192 AF439152
RefSeq transcript (Entrez)NM_001046 NM_001256461
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC12A2
Cluster EST : UnigeneHs.712970 [ NCBI ]
CGAP (NCI)Hs.712970
Alternative Splicing GalleryENSG00000064651
Gene ExpressionSLC12A2 [ NCBI-GEO ]   SLC12A2 [ EBI - ARRAY_EXPRESS ]   SLC12A2 [ SEEK ]   SLC12A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6558
GTEX Portal (Tissue expression)SLC12A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55011   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55011  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55011
Splice isoforms : SwissVarP55011
PhosPhoSitePlusP55011
Domains : Interpro (EBI)AA-permease/SLC12A_dom    AA_permease_N    Na/K/Cl_cotranspt    NKCC1    SLC12_C    SLC12A_fam   
Domain families : Pfam (Sanger)AA_permease (PF00324)    AA_permease_N (PF08403)    SLC12 (PF03522)   
Domain families : Pfam (NCBI)pfam00324    pfam08403    pfam03522   
Conserved Domain (NCBI)SLC12A2
DMDM Disease mutations6558
Blocks (Seattle)SLC12A2
SuperfamilyP55011
Human Protein AtlasENSG00000064651
Peptide AtlasP55011
HPRD06775
IPIIPI00022649   IPI00220844   IPI00966284   
Protein Interaction databases
DIP (DOE-UCLA)P55011
IntAct (EBI)P55011
FunCoupENSG00000064651
BioGRIDSLC12A2
STRING (EMBL)SLC12A2
ZODIACSLC12A2
Ontologies - Pathways
QuickGOP55011
Ontology : AmiGOprotein binding  plasma membrane  integral component of plasma membrane  transport  ion transport  potassium ion transport  sodium ion transport  hyperosmotic response  gamma-aminobutyric acid signaling pathway  aging  sodium:potassium:chloride symporter activity  ammonium transmembrane transporter activity  ammonium transport  membrane  apical plasma membrane  protein kinase binding  transepithelial chloride transport  positive regulation of cell volume  extracellular exosome  transepithelial ammonium transport  ammonium transmembrane transport  chloride transmembrane transport  extracellular vesicle  
Ontology : EGO-EBIprotein binding  plasma membrane  integral component of plasma membrane  transport  ion transport  potassium ion transport  sodium ion transport  hyperosmotic response  gamma-aminobutyric acid signaling pathway  aging  sodium:potassium:chloride symporter activity  ammonium transmembrane transporter activity  ammonium transport  membrane  apical plasma membrane  protein kinase binding  transepithelial chloride transport  positive regulation of cell volume  extracellular exosome  transepithelial ammonium transport  ammonium transmembrane transport  chloride transmembrane transport  extracellular vesicle  
Pathways : KEGGSalivary secretion    Pancreatic secretion    Vibrio cholerae infection   
NDEx NetworkSLC12A2
Atlas of Cancer Signalling NetworkSLC12A2
Wikipedia pathwaysSLC12A2
Orthology - Evolution
OrthoDB6558
GeneTree (enSembl)ENSG00000064651
Phylogenetic Trees/Animal Genes : TreeFamSLC12A2
HOVERGENP55011
HOGENOMP55011
Homologs : HomoloGeneSLC12A2
Homology/Alignments : Family Browser (UCSC)SLC12A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A2
dbVarSLC12A2
ClinVarSLC12A2
1000_GenomesSLC12A2 
Exome Variant ServerSLC12A2
ExAC (Exome Aggregation Consortium)SLC12A2 (select the gene name)
Genetic variants : HAPMAP6558
Genomic Variants (DGV)SLC12A2 [DGVbeta]
DECIPHERSLC12A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC12A2 
Mutations
ICGC Data PortalSLC12A2 
TCGA Data PortalSLC12A2 
Broad Tumor PortalSLC12A2
OASIS PortalSLC12A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A2
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 SLC12A2
DgiDB (Drug Gene Interaction Database)SLC12A2
DoCM (Curated mutations)SLC12A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A2 (select a term)
intoGenSLC12A2
Cancer3DSLC12A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600840   
Orphanet
MedgenSLC12A2
Genetic Testing Registry SLC12A2
NextProtP55011 [Medical]
TSGene6558
GENETestsSLC12A2
Target ValidationSLC12A2
Huge Navigator SLC12A2 [HugePedia]
snp3D : Map Gene to Disease6558
BioCentury BCIQSLC12A2
ClinGenSLC12A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6558
Chemical/Pharm GKB GenePA35806
Clinical trialSLC12A2
Miscellaneous
canSAR (ICR)SLC12A2 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A2
EVEXSLC12A2
GoPubMedSLC12A2
iHOPSLC12A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:31:15 CEST 2017

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