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SLC12A1 (solute carrier family 12 member 1)

Identity

Alias_namessolute carrier family 12 (sodium/potassium/chloride transporter)
Alias_symbol (synonym)NKCC2
Other aliasBSC1
HGNC (Hugo) SLC12A1
LocusID (NCBI) 6557
Atlas_Id 54000
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 48206301 and ends at 48304078 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)
LEO1 (15q21.2) / SLC12A1 (15q21.1)SLC12A1 (15q21.1) / PSPH (7p11.2)TRADD (16q22.1) / SLC12A1 (15q21.1)
TRADD 16q22.1 / SLC12A1 15q21.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  LEO1/SLC12A1 (15q21)
t(15;16)(q21;q22) TRADD/SLC12A1


External links

Nomenclature
HGNC (Hugo)SLC12A1   10910
Cards
Entrez_Gene (NCBI)SLC12A1  6557  solute carrier family 12 member 1
AliasesBSC1; NKCC2
GeneCards (Weizmann)SLC12A1
Ensembl hg19 (Hinxton)ENSG00000074803 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000074803 [Gene_View]  ENSG00000074803 [Sequence]  chr15:48206301-48304078 [Contig_View]  SLC12A1 [Vega]
ICGC DataPortalENSG00000074803
TCGA cBioPortalSLC12A1
AceView (NCBI)SLC12A1
Genatlas (Paris)SLC12A1
WikiGenes6557
SOURCE (Princeton)SLC12A1
Genetics Home Reference (NIH)SLC12A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC12A1  -     chr15:48206301-48304078 +  15q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC12A1  -     15q21.1   [Description]    (hg19-Feb_2009)
EnsemblSLC12A1 - 15q21.1 [CytoView hg19]  SLC12A1 - 15q21.1 [CytoView hg38]
Mapping of homologs : NCBISLC12A1 [Mapview hg19]  SLC12A1 [Mapview hg38]
OMIM600839   601678   
Gene and transcription
Genbank (Entrez)AA917702 AB032525 AB032526 AB032527 AK295375
RefSeq transcript (Entrez)NM_000338 NM_001184832
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC12A1
Cluster EST : UnigeneHs.605373 [ NCBI ]
CGAP (NCI)Hs.605373
Alternative Splicing GalleryENSG00000074803
Gene ExpressionSLC12A1 [ NCBI-GEO ]   SLC12A1 [ EBI - ARRAY_EXPRESS ]   SLC12A1 [ SEEK ]   SLC12A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6557
GTEX Portal (Tissue expression)SLC12A1
Human Protein AtlasENSG00000074803-SLC12A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13621   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13621  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13621
Splice isoforms : SwissVarQ13621
PhosPhoSitePlusQ13621
Domains : Interpro (EBI)AA-permease/SLC12A_dom    AA_permease_N    Na/K/Cl_cotranspt    SLC12_C    Slc12a1    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)SLC12A1
DMDM Disease mutations6557
Blocks (Seattle)SLC12A1
SuperfamilyQ13621
Human Protein Atlas [tissue]ENSG00000074803-SLC12A1 [tissue]
Peptide AtlasQ13621
HPRD02908
IPIIPI00443898   IPI00914893   IPI00909057   IPI00442865   IPI00977978   
Protein Interaction databases
DIP (DOE-UCLA)Q13621
IntAct (EBI)Q13621
FunCoupENSG00000074803
BioGRIDSLC12A1
STRING (EMBL)SLC12A1
ZODIACSLC12A1
Ontologies - Pathways
QuickGOQ13621
Ontology : AmiGOplasma membrane  ion transport  cell volume homeostasis  sodium:potassium:chloride symporter activity  sodium:potassium:chloride symporter activity  sodium ion transmembrane transporter activity  sodium:chloride symporter activity  potassium:chloride symporter activity  membrane  integral component of membrane  apical plasma membrane  ion transmembrane transport  sodium ion transmembrane transport  chloride ion homeostasis  potassium ion homeostasis  extracellular exosome  extracellular exosome  chloride transmembrane transport  potassium ion import across plasma membrane  
Ontology : EGO-EBIplasma membrane  ion transport  cell volume homeostasis  sodium:potassium:chloride symporter activity  sodium:potassium:chloride symporter activity  sodium ion transmembrane transporter activity  sodium:chloride symporter activity  potassium:chloride symporter activity  membrane  integral component of membrane  apical plasma membrane  ion transmembrane transport  sodium ion transmembrane transport  chloride ion homeostasis  potassium ion homeostasis  extracellular exosome  extracellular exosome  chloride transmembrane transport  potassium ion import across plasma membrane  
NDEx NetworkSLC12A1
Atlas of Cancer Signalling NetworkSLC12A1
Wikipedia pathwaysSLC12A1
Orthology - Evolution
OrthoDB6557
GeneTree (enSembl)ENSG00000074803
Phylogenetic Trees/Animal Genes : TreeFamSLC12A1
HOVERGENQ13621
HOGENOMQ13621
Homologs : HomoloGeneSLC12A1
Homology/Alignments : Family Browser (UCSC)SLC12A1
Gene fusions - Rearrangements
Fusion : MitelmanLEO1/SLC12A1 [15q21.2/15q21.1]  [t(15;15)(q21;q21)]  
Fusion : MitelmanTRADD/SLC12A1 [16q22.1/15q21.1]  [t(15;16)(q21;q22)]  
Fusion PortalTRADD 16q22.1 SLC12A1 15q21.1 BRCA
Fusion : QuiverSLC12A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A1
dbVarSLC12A1
ClinVarSLC12A1
1000_GenomesSLC12A1 
Exome Variant ServerSLC12A1
ExAC (Exome Aggregation Consortium)ENSG00000074803
GNOMAD BrowserENSG00000074803
Varsome BrowserSLC12A1
Genetic variants : HAPMAP6557
Genomic Variants (DGV)SLC12A1 [DGVbeta]
DECIPHERSLC12A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC12A1 
Mutations
ICGC Data PortalSLC12A1 
TCGA Data PortalSLC12A1 
Broad Tumor PortalSLC12A1
OASIS PortalSLC12A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A1
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 SLC12A1
DgiDB (Drug Gene Interaction Database)SLC12A1
DoCM (Curated mutations)SLC12A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A1 (select a term)
intoGenSLC12A1
Cancer3DSLC12A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600839    601678   
Orphanet12437   
DisGeNETSLC12A1
MedgenSLC12A1
Genetic Testing Registry SLC12A1
NextProtQ13621 [Medical]
TSGene6557
GENETestsSLC12A1
Target ValidationSLC12A1
Huge Navigator SLC12A1 [HugePedia]
snp3D : Map Gene to Disease6557
BioCentury BCIQSLC12A1
ClinGenSLC12A1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6557
Chemical/Pharm GKB GenePA320
Clinical trialSLC12A1
Miscellaneous
canSAR (ICR)SLC12A1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A1
EVEXSLC12A1
GoPubMedSLC12A1
iHOPSLC12A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:39:20 CET 2018

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