Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC12A6 (solute carrier family 12 member 6)

Identity

Alias_namesKCC3
ACCPN
agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)
solute carrier family 12 (potassium/chloride transporter), member 6
Other aliasKCC3A
KCC3B
HGNC (Hugo) SLC12A6
LocusID (NCBI) 9990
Atlas_Id 43655
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 34522197 and ends at 34629961 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PTPRD (9p24.1) / SLC12A6 (15q14)SLC12A6 (15q14) / B4GALT5 (20q13.13)SLC12A6 (15q14) / TES (7q31.2)
TES (7q31.2) / SLC12A6 (15q14)

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)SLC12A6   10914
LRG (Locus Reference Genomic)LRG_270
Cards
Entrez_Gene (NCBI)SLC12A6  9990  solute carrier family 12 member 6
AliasesACCPN; KCC3; KCC3A; KCC3B
GeneCards (Weizmann)SLC12A6
Ensembl hg19 (Hinxton)ENSG00000140199 [Gene_View]  chr15:34522197-34629961 [Contig_View]  SLC12A6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000140199 [Gene_View]  chr15:34522197-34629961 [Contig_View]  SLC12A6 [Vega]
ICGC DataPortalENSG00000140199
TCGA cBioPortalSLC12A6
AceView (NCBI)SLC12A6
Genatlas (Paris)SLC12A6
WikiGenes9990
SOURCE (Princeton)SLC12A6
Genetics Home Reference (NIH)SLC12A6
Genomic and cartography
GoldenPath hg19 (UCSC)SLC12A6  -     chr15:34522197-34629961 -  15q14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC12A6  -     15q14   [Description]    (hg38-Dec_2013)
EnsemblSLC12A6 - 15q14 [CytoView hg19]  SLC12A6 - 15q14 [CytoView hg38]
Mapping of homologs : NCBISLC12A6 [Mapview hg19]  SLC12A6 [Mapview hg38]
OMIM218000   604878   
Gene and transcription
Genbank (Entrez)AF105366 AF108831 AF116242 AF477977 AF531258
RefSeq transcript (Entrez)NM_001042494 NM_001042495 NM_001042496 NM_001042497 NM_005135 NM_133647
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_007951 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)SLC12A6
Cluster EST : UnigeneHs.510939 [ NCBI ]
CGAP (NCI)Hs.510939
Alternative Splicing GalleryENSG00000140199
Gene ExpressionSLC12A6 [ NCBI-GEO ]   SLC12A6 [ EBI - ARRAY_EXPRESS ]   SLC12A6 [ SEEK ]   SLC12A6 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9990
GTEX Portal (Tissue expression)SLC12A6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHW9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHW9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHW9
Splice isoforms : SwissVarQ9UHW9
PhosPhoSitePlusQ9UHW9
Domains : Interpro (EBI)AA-permease/SLC12A_dom    KCC3    KCL_cotranspt    SLC12_C    SLC12A_fam   
Domain families : Pfam (Sanger)AA_permease (PF00324)    SLC12 (PF03522)   
Domain families : Pfam (NCBI)pfam00324    pfam03522   
Conserved Domain (NCBI)SLC12A6
DMDM Disease mutations9990
Blocks (Seattle)SLC12A6
SuperfamilyQ9UHW9
Human Protein AtlasENSG00000140199
Peptide AtlasQ9UHW9
HPRD09220
IPIIPI00465299   IPI00220151   IPI00783274   IPI00783541   IPI00797408   IPI01018802   IPI01013531   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHW9
IntAct (EBI)Q9UHW9
FunCoupENSG00000140199
BioGRIDSLC12A6
STRING (EMBL)SLC12A6
ZODIACSLC12A6
Ontologies - Pathways
QuickGOQ9UHW9
Ontology : AmiGOangiogenesis  plasma membrane  integral component of plasma membrane  ion transport  ion transport  synaptic transmission  potassium ion import  potassium ion transmembrane transporter activity  potassium:chloride symporter activity  potassium:chloride symporter activity  integral component of membrane  basolateral plasma membrane  protein kinase binding  potassium ion symporter activity  rubidium ion transport  rubidium ion transmembrane transporter activity  cellular hypotonic response  cellular hypotonic salinity response  potassium ion transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBIangiogenesis  plasma membrane  integral component of plasma membrane  ion transport  ion transport  synaptic transmission  potassium ion import  potassium ion transmembrane transporter activity  potassium:chloride symporter activity  potassium:chloride symporter activity  integral component of membrane  basolateral plasma membrane  protein kinase binding  potassium ion symporter activity  rubidium ion transport  rubidium ion transmembrane transporter activity  cellular hypotonic response  cellular hypotonic salinity response  potassium ion transmembrane transport  chloride transmembrane transport  
NDEx NetworkSLC12A6
Atlas of Cancer Signalling NetworkSLC12A6
Wikipedia pathwaysSLC12A6
Orthology - Evolution
OrthoDB9990
GeneTree (enSembl)ENSG00000140199
Phylogenetic Trees/Animal Genes : TreeFamSLC12A6
HOVERGENQ9UHW9
HOGENOMQ9UHW9
Homologs : HomoloGeneSLC12A6
Homology/Alignments : Family Browser (UCSC)SLC12A6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A6
dbVarSLC12A6
ClinVarSLC12A6
1000_GenomesSLC12A6 
Exome Variant ServerSLC12A6
ExAC (Exome Aggregation Consortium)SLC12A6 (select the gene name)
Genetic variants : HAPMAP9990
Genomic Variants (DGV)SLC12A6 [DGVbeta]
DECIPHER (Syndromes)15:34522197-34629961  ENSG00000140199
CONAN: Copy Number AnalysisSLC12A6 
Mutations
ICGC Data PortalSLC12A6 
TCGA Data PortalSLC12A6 
Broad Tumor PortalSLC12A6
OASIS PortalSLC12A6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC12A6
DgiDB (Drug Gene Interaction Database)SLC12A6
DoCM (Curated mutations)SLC12A6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A6 (select a term)
intoGenSLC12A6
Cancer3DSLC12A6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM218000    604878   
Orphanet448   
MedgenSLC12A6
Genetic Testing Registry SLC12A6
NextProtQ9UHW9 [Medical]
TSGene9990
GENETestsSLC12A6
Huge Navigator SLC12A6 [HugePedia]
snp3D : Map Gene to Disease9990
BioCentury BCIQSLC12A6
ClinGenSLC12A6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9990
Chemical/Pharm GKB GenePA35808
Clinical trialSLC12A6
Miscellaneous
canSAR (ICR)SLC12A6 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A6
EVEXSLC12A6
GoPubMedSLC12A6
iHOPSLC12A6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:27:29 CET 2017

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