Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC12A4 (solute carrier family 12 member 4)

Identity

Alias_namessolute carrier family 12 (potassium/chloride transporter)
Alias_symbol (synonym)KCC1
Other aliasCTC-479C5.17
hKCC1
HGNC (Hugo) SLC12A4
LocusID (NCBI) 6560
Atlas_Id 45800
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67943474 and ends at 67968694 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RANBP10 (16q22.1) / SLC12A4 (16q22.1)RANBP10 16q22.1 / SLC12A4 16q22.1

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

 


External links

Nomenclature
HGNC (Hugo)SLC12A4   10913
Cards
Entrez_Gene (NCBI)SLC12A4  6560  solute carrier family 12 member 4
AliasesCTC-479C5.17; KCC1; hKCC1
GeneCards (Weizmann)SLC12A4
Ensembl hg19 (Hinxton)ENSG00000124067 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124067 [Gene_View]  chr16:67943474-67968694 [Contig_View]  SLC12A4 [Vega]
ICGC DataPortalENSG00000124067
TCGA cBioPortalSLC12A4
AceView (NCBI)SLC12A4
Genatlas (Paris)SLC12A4
WikiGenes6560
SOURCE (Princeton)SLC12A4
Genetics Home Reference (NIH)SLC12A4
Genomic and cartography
GoldenPath hg38 (UCSC)SLC12A4  -     chr16:67943474-67968694 -  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC12A4  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblSLC12A4 - 16q22.1 [CytoView hg19]  SLC12A4 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBISLC12A4 [Mapview hg19]  SLC12A4 [Mapview hg38]
OMIM604119   
Gene and transcription
Genbank (Entrez)AF047338 AF053402 AF054505 AF054506 AI368074
RefSeq transcript (Entrez)NM_001145961 NM_001145962 NM_001145963 NM_001145964 NM_005072
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC12A4
Cluster EST : UnigeneHs.10094 [ NCBI ]
CGAP (NCI)Hs.10094
Alternative Splicing GalleryENSG00000124067
Gene ExpressionSLC12A4 [ NCBI-GEO ]   SLC12A4 [ EBI - ARRAY_EXPRESS ]   SLC12A4 [ SEEK ]   SLC12A4 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6560
GTEX Portal (Tissue expression)SLC12A4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UP95   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UP95  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UP95
Splice isoforms : SwissVarQ9UP95
PhosPhoSitePlusQ9UP95
Domains : Interpro (EBI)AA-permease/SLC12A_dom    KCC1    KCL_cotranspt    SLC12_C    SLC12A_fam   
Domain families : Pfam (Sanger)AA_permease (PF00324)    SLC12 (PF03522)   
Domain families : Pfam (NCBI)pfam00324    pfam03522   
Conserved Domain (NCBI)SLC12A4
DMDM Disease mutations6560
Blocks (Seattle)SLC12A4
SuperfamilyQ9UP95
Human Protein AtlasENSG00000124067
Peptide AtlasQ9UP95
HPRD04987
IPIIPI00021057   IPI00215693   IPI00215694   IPI00902895   IPI00215695   IPI00924945   IPI00927273   IPI00927160   IPI00921508   
Protein Interaction databases
DIP (DOE-UCLA)Q9UP95
IntAct (EBI)Q9UP95
FunCoupENSG00000124067
BioGRIDSLC12A4
STRING (EMBL)SLC12A4
ZODIACSLC12A4
Ontologies - Pathways
QuickGOQ9UP95
Ontology : AmiGOlysosomal membrane  plasma membrane  integral component of plasma membrane  transport  ion transport  cell volume homeostasis  chemical synaptic transmission  potassium:chloride symporter activity  potassium:chloride symporter activity  membrane  protein kinase binding  potassium ion symporter activity  potassium ion transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBIlysosomal membrane  plasma membrane  integral component of plasma membrane  transport  ion transport  cell volume homeostasis  chemical synaptic transmission  potassium:chloride symporter activity  potassium:chloride symporter activity  membrane  protein kinase binding  potassium ion symporter activity  potassium ion transmembrane transport  chloride transmembrane transport  
NDEx NetworkSLC12A4
Atlas of Cancer Signalling NetworkSLC12A4
Wikipedia pathwaysSLC12A4
Orthology - Evolution
OrthoDB6560
GeneTree (enSembl)ENSG00000124067
Phylogenetic Trees/Animal Genes : TreeFamSLC12A4
HOVERGENQ9UP95
HOGENOMQ9UP95
Homologs : HomoloGeneSLC12A4
Homology/Alignments : Family Browser (UCSC)SLC12A4
Gene fusions - Rearrangements
Fusion : MitelmanRANBP10/SLC12A4 [16q22.1/16q22.1]  [t(16;16)(q22;q22)]  
Fusion: TCGARANBP10 16q22.1 SLC12A4 16q22.1 BLCA LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A4
dbVarSLC12A4
ClinVarSLC12A4
1000_GenomesSLC12A4 
Exome Variant ServerSLC12A4
ExAC (Exome Aggregation Consortium)SLC12A4 (select the gene name)
Genetic variants : HAPMAP6560
Genomic Variants (DGV)SLC12A4 [DGVbeta]
DECIPHERSLC12A4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC12A4 
Mutations
ICGC Data PortalSLC12A4 
TCGA Data PortalSLC12A4 
Broad Tumor PortalSLC12A4
OASIS PortalSLC12A4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A4
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 SLC12A4
DgiDB (Drug Gene Interaction Database)SLC12A4
DoCM (Curated mutations)SLC12A4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A4 (select a term)
intoGenSLC12A4
Cancer3DSLC12A4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604119   
Orphanet
MedgenSLC12A4
Genetic Testing Registry SLC12A4
NextProtQ9UP95 [Medical]
TSGene6560
GENETestsSLC12A4
Target ValidationSLC12A4
Huge Navigator SLC12A4 [HugePedia]
snp3D : Map Gene to Disease6560
BioCentury BCIQSLC12A4
ClinGenSLC12A4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6560
Chemical/Pharm GKB GenePA35807
Clinical trialSLC12A4
Miscellaneous
canSAR (ICR)SLC12A4 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A4
EVEXSLC12A4
GoPubMedSLC12A4
iHOPSLC12A4
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 : Wed Jun 7 12:55:44 CEST 2017

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