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SLC12A3 (solute carrier family 12 member 3)

Identity

Other namesNCC
NCCT
TSC
HGNC (Hugo) SLC12A3
LocusID (NCBI) 6559
Atlas_Id 46538
Location 16q13  [Link to chromosome band 16q13]
Location_base_pair Starts at 56899119 and ends at 56949762 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SLC12A3 (16q13) / SLC12A3 (16q13)

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)SLC12A3   10912
Cards
Entrez_Gene (NCBI)SLC12A3  6559  solute carrier family 12 member 3
AliasesNCC; NCCT; TSC
GeneCards (Weizmann)SLC12A3
Ensembl hg19 (Hinxton)ENSG00000070915 [Gene_View]  chr16:56899119-56949762 [Contig_View]  SLC12A3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000070915 [Gene_View]  chr16:56899119-56949762 [Contig_View]  SLC12A3 [Vega]
ICGC DataPortalENSG00000070915
TCGA cBioPortalSLC12A3
AceView (NCBI)SLC12A3
Genatlas (Paris)SLC12A3
WikiGenes6559
SOURCE (Princeton)SLC12A3
Genomic and cartography
GoldenPath hg19 (UCSC)SLC12A3  -     chr16:56899119-56949762 +  16q13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC12A3  -     16q13   [Description]    (hg38-Dec_2013)
EnsemblSLC12A3 - 16q13 [CytoView hg19]  SLC12A3 - 16q13 [CytoView hg38]
Mapping of homologs : NCBISLC12A3 [Mapview hg19]  SLC12A3 [Mapview hg38]
OMIM263800   600968   
Gene and transcription
Genbank (Entrez)AK223133 AK315298 BC111850 BF510426 U44128
RefSeq transcript (Entrez)NM_000339 NM_001126107 NM_001126108
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_009386 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)SLC12A3
Cluster EST : UnigeneHs.669115 [ NCBI ]
CGAP (NCI)Hs.669115
Alternative Splicing GalleryENSG00000070915
Gene ExpressionSLC12A3 [ NCBI-GEO ]   SLC12A3 [ EBI - ARRAY_EXPRESS ]   SLC12A3 [ SEEK ]   SLC12A3 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6559
GTEX Portal (Tissue expression)SLC12A3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55017 (Uniprot)
NextProtP55017  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55017
Splice isoforms : SwissVarP55017 (Swissvar)
PhosPhoSitePlusP55017
Domains : Interpro (EBI)AA-permease/SLC12A_dom    AA_permease_N    SLC12_C    SLC12A3    SLC12A_fam   
Domain families : Pfam (Sanger)AA_permease (PF00324)    AA_permease_N (PF08403)    SLC12 (PF03522)   
Domain families : Pfam (NCBI)pfam00324    pfam08403    pfam03522   
DMDM Disease mutations6559
Blocks (Seattle)SLC12A3
SuperfamilyP55017
Human Protein AtlasENSG00000070915
Peptide AtlasP55017
HPRD02984
IPIIPI00216438   IPI00646907   IPI00893513   
Protein Interaction databases
DIP (DOE-UCLA)P55017
IntAct (EBI)P55017
FunCoupENSG00000070915
BioGRIDSLC12A3
STRING (EMBL)SLC12A3
ZODIACSLC12A3
Ontologies - Pathways
QuickGOP55017
Ontology : AmiGOtransporter activity  protein binding  cytosol  plasma membrane  integral component of plasma membrane  transport  ion transport  sodium ion transport  sodium:chloride symporter activity  membrane  apical plasma membrane  apical plasma membrane  enzyme binding  sodium ion transmembrane transport  extracellular exosome  chloride transmembrane transport  
Ontology : EGO-EBItransporter activity  protein binding  cytosol  plasma membrane  integral component of plasma membrane  transport  ion transport  sodium ion transport  sodium:chloride symporter activity  membrane  apical plasma membrane  apical plasma membrane  enzyme binding  sodium ion transmembrane transport  extracellular exosome  chloride transmembrane transport  
NDEx Network
Atlas of Cancer Signalling NetworkSLC12A3
Wikipedia pathwaysSLC12A3
Orthology - Evolution
OrthoDB6559
GeneTree (enSembl)ENSG00000070915
Phylogenetic Trees/Animal Genes : TreeFamSLC12A3
Homologs : HomoloGeneSLC12A3
Homology/Alignments : Family Browser (UCSC)SLC12A3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSLC12A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A3
dbVarSLC12A3
ClinVarSLC12A3
1000_GenomesSLC12A3 
Exome Variant ServerSLC12A3
ExAC (Exome Aggregation Consortium)SLC12A3 (select the gene name)
Genetic variants : HAPMAP6559
Genomic Variants (DGV)SLC12A3 [DGVbeta]
Mutations
ICGC Data PortalSLC12A3 
TCGA Data PortalSLC12A3 
Broad Tumor PortalSLC12A3
OASIS PortalSLC12A3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A3 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC12A3
DgiDB (Drug Gene Interaction Database)SLC12A3
DoCM (Curated mutations)SLC12A3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A3 (select a term)
intoGenSLC12A3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:56899119-56949762  ENSG00000070915
CONAN: Copy Number AnalysisSLC12A3 
Mutations and Diseases : HGMDSLC12A3
OMIM263800    600968   
MedgenSLC12A3
Genetic Testing Registry SLC12A3
NextProtP55017 [Medical]
TSGene6559
GENETestsSLC12A3
Huge Navigator SLC12A3 [HugePedia]
snp3D : Map Gene to Disease6559
BioCentury BCIQSLC12A3
ClinGenSLC12A3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6559
Chemical/Pharm GKB GenePA321
Clinical trialSLC12A3
Miscellaneous
canSAR (ICR)SLC12A3 (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A3
EVEXSLC12A3
GoPubMedSLC12A3
iHOPSLC12A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:09:26 CEST 2016

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