Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC12A3 (solute carrier family 12 (sodium/chloride transporter), member 3)

Identity

Other namesNCC
NCCT
TSC
HGNC (Hugo) SLC12A3
LocusID (NCBI) 6559
Location 16q13
Location_base_pair Starts at 56899119 and ends at 56949762 bp from pter ( according to hg19-Feb_2009)
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 (sodium/chloride transporter), member 3
GeneCards (Weizmann)SLC12A3
Ensembl (Hinxton)ENSG00000070915 [Gene_View]  chr16:56899119-56949762 [Contig_View]  SLC12A3 [Vega]
ICGC DataPortalENSG00000070915
cBioPortalSLC12A3
AceView (NCBI)SLC12A3
Genatlas (Paris)SLC12A3
WikiGenes6559
SOURCE (Princeton)NM_000339 NM_001126107 NM_001126108
Genomic and cartography
GoldenPath (UCSC)SLC12A3  -  16q13   chr16:56899119-56949762 +  16q13   [Description]    (hg19-Feb_2009)
EnsemblSLC12A3 - 16q13 [CytoView]
Mapping of homologs : NCBISLC12A3 [Mapview]
OMIM263800   600968   
Gene and transcription
Genbank (Entrez)AK223133 AK315298 BC111850 BF510426 U44128
RefSeq transcript (Entrez)NM_000339 NM_001126107 NM_001126108
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_009386 NT_010498 NW_001838290 NW_004929402
Consensus coding sequences : CCDS (NCBI)SLC12A3
Cluster EST : UnigeneHs.669115 [ NCBI ]
CGAP (NCI)Hs.669115
Alternative Splicing : Fast-db (Paris)GSHG0011222
Alternative Splicing GalleryENSG00000070915
Gene ExpressionSLC12A3 [ NCBI-GEO ]     SLC12A3 [ SEEK ]   SLC12A3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55017 (Uniprot)
NextProtP55017  [Medical]
With graphics : InterProP55017
Splice isoforms : SwissVarP55017 (Swissvar)
Domains : Interpro (EBI)AA-permease/SLC12A_dom [organisation]   AA_permease_N [organisation]   Na/K/Cl_cotransptS [organisation]   NaCl_cotranspt [organisation]  
Related proteins : CluSTrP55017
Domain families : Pfam (Sanger)AA_permease (PF00324)    AA_permease_N (PF08403)   
Domain families : Pfam (NCBI)pfam00324    pfam08403   
DMDM Disease mutations6559
Blocks (Seattle)P55017
Human Protein AtlasENSG00000070915 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP55017
HPRD02984
IPIIPI00216438   IPI00646907   IPI00893513   
Protein Interaction databases
DIP (DOE-UCLA)P55017
IntAct (EBI)P55017
FunCoupENSG00000070915
BioGRIDSLC12A3
InParanoidP55017
Interologous Interaction database P55017
IntegromeDBSLC12A3
STRING (EMBL)SLC12A3
Ontologies - Pathways
Ontology : AmiGOtransporter activity  protein binding  cytosol  plasma membrane  integral component of plasma membrane  transport  ion transport  sodium ion transport  chloride transport  sodium:chloride symporter activity  membrane  apical plasma membrane  apical plasma membrane  sodium ion transmembrane transport  transmembrane transport  extracellular vesicular exosome  chloride transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBItransporter activity  protein binding  cytosol  plasma membrane  integral component of plasma membrane  transport  ion transport  sodium ion transport  chloride transport  sodium:chloride symporter activity  membrane  apical plasma membrane  apical plasma membrane  sodium ion transmembrane transport  transmembrane transport  extracellular vesicular exosome  chloride transmembrane transport  chloride transmembrane transport  
Protein Interaction DatabaseSLC12A3
Wikipedia pathwaysSLC12A3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SLC12A3
snp3D : Map Gene to Disease6559
SNP (GeneSNP Utah)SLC12A3
SNP : HGBaseSLC12A3
Genetic variants : HAPMAPSLC12A3
Exome VariantSLC12A3
1000_GenomesSLC12A3 
ICGC programENSG00000070915 
Somatic Mutations in Cancer : COSMICSLC12A3 
CONAN: Copy Number AnalysisSLC12A3 
Mutations and Diseases : HGMDSLC12A3
Mutations and Diseases : intOGenSLC12A3
Genomic VariantsSLC12A3  SLC12A3 [DGVbeta]
dbVarSLC12A3
ClinVarSLC12A3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM263800    600968   
MedgenSLC12A3
GENETestsSLC12A3
Disease Genetic AssociationSLC12A3
Huge Navigator SLC12A3 [HugePedia]  SLC12A3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSLC12A3
Homology/Alignments : Family Browser (UCSC)SLC12A3
Phylogenetic Trees/Animal Genes : TreeFamSLC12A3
Chemical/Protein Interactions : CTD6559
Chemical/Pharm GKB GenePA321
Clinical trialSLC12A3
Cancer Resource (Charite)ENSG00000070915
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
CoreMineSLC12A3
iHOPSLC12A3
OncoSearchSLC12A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:18:16 CEST 2014

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