Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SLC12A8 (solute carrier family 12 member 8)

Identity

Alias_symbol (synonym)CCC9
Other alias
HGNC (Hugo) SLC12A8
LocusID (NCBI) 84561
Atlas_Id 54624
Location 3q21.2  [Link to chromosome band 3q21]
Location_base_pair Starts at 124801480 and ends at 124930243 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KIAA0232 (4p16.1) / SLC12A8 (3q21.2)KIAA1429 (8q22.1) / SLC12A8 (3q21.2)LOC100302640 () / SLC12A8 (3q21.2)
SCAMP2 (15q24.1) / SLC12A8 (3q21.2)SLC12A8 (3q21.2) / BCAS1 (20q13.2)SLC12A8 (3q21.2) / BFSP2 (3q22.1)
SLC12A8 (3q21.2) / CALCOCO2 (17q21.32)SLC12A8 (3q21.2) / EZR (6q25.3)SLC12A8 (3q21.2) / HTN1 (4q13.3)
SLC12A8 (3q21.2) / MYLK (3q21.1)SLC12A8 (3q21.2) / SLC12A8 (3q21.2)SLC12A8 (3q21.2) / ZFP36 (19q13.2)
SCAMP2 15q24.1 / SLC12A8 3q21.2SLC12A8 3q21.2 / BCAS1 20q13.2SLC12A8 3q21.2 / BFSP2 3q22.1

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SLC12A8   15595
Cards
Entrez_Gene (NCBI)SLC12A8  84561  solute carrier family 12 member 8
AliasesCCC9
GeneCards (Weizmann)SLC12A8
Ensembl hg19 (Hinxton)ENSG00000221955 [Gene_View]  chr3:124801480-124930243 [Contig_View]  SLC12A8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000221955 [Gene_View]  chr3:124801480-124930243 [Contig_View]  SLC12A8 [Vega]
ICGC DataPortalENSG00000221955
TCGA cBioPortalSLC12A8
AceView (NCBI)SLC12A8
Genatlas (Paris)SLC12A8
WikiGenes84561
SOURCE (Princeton)SLC12A8
Genetics Home Reference (NIH)SLC12A8
Genomic and cartography
GoldenPath hg19 (UCSC)SLC12A8  -     chr3:124801480-124930243 -  3q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC12A8  -     3q21.2   [Description]    (hg38-Dec_2013)
EnsemblSLC12A8 - 3q21.2 [CytoView hg19]  SLC12A8 - 3q21.2 [CytoView hg38]
Mapping of homologs : NCBISLC12A8 [Mapview hg19]  SLC12A8 [Mapview hg38]
OMIM611316   
Gene and transcription
Genbank (Entrez)AA331231 AA593021 AF345197 AF390442 AK026841
RefSeq transcript (Entrez)NM_001195483 NM_024628
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_027706 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)SLC12A8
Cluster EST : UnigeneHs.658514 [ NCBI ]
CGAP (NCI)Hs.658514
Alternative Splicing GalleryENSG00000221955
Gene ExpressionSLC12A8 [ NCBI-GEO ]   SLC12A8 [ EBI - ARRAY_EXPRESS ]   SLC12A8 [ SEEK ]   SLC12A8 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84561
GTEX Portal (Tissue expression)SLC12A8
Protein : pattern, domain, 3D structure
UniProt/SwissProtA0AV02   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA0AV02  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA0AV02
Splice isoforms : SwissVarA0AV02
PhosPhoSitePlusA0AV02
Domains : Interpro (EBI)AA-permease/SLC12A_dom   
Domain families : Pfam (Sanger)AA_permease (PF00324)   
Domain families : Pfam (NCBI)pfam00324   
Conserved Domain (NCBI)SLC12A8
DMDM Disease mutations84561
Blocks (Seattle)SLC12A8
SuperfamilyA0AV02
Human Protein AtlasENSG00000221955
Peptide AtlasA0AV02
HPRD11563
IPIIPI00855723   IPI00867607   IPI00793608   IPI00867726   IPI00867740   IPI00290155   IPI01024764   IPI00945001   IPI00945184   IPI00946734   
Protein Interaction databases
DIP (DOE-UCLA)A0AV02
IntAct (EBI)A0AV02
FunCoupENSG00000221955
BioGRIDSLC12A8
STRING (EMBL)SLC12A8
ZODIACSLC12A8
Ontologies - Pathways
QuickGOA0AV02
Ontology : AmiGOpotassium ion transport  symporter activity  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIpotassium ion transport  symporter activity  integral component of membrane  transmembrane transport  
NDEx NetworkSLC12A8
Atlas of Cancer Signalling NetworkSLC12A8
Wikipedia pathwaysSLC12A8
Orthology - Evolution
OrthoDB84561
GeneTree (enSembl)ENSG00000221955
Phylogenetic Trees/Animal Genes : TreeFamSLC12A8
HOVERGENA0AV02
HOGENOMA0AV02
Homologs : HomoloGeneSLC12A8
Homology/Alignments : Family Browser (UCSC)SLC12A8
Gene fusions - Rearrangements
Fusion : MitelmanSCAMP2/SLC12A8 [15q24.1/3q21.2]  [t(3;15)(q21;q24)]  
Fusion : MitelmanSLC12A8/BCAS1 [3q21.2/20q13.2]  [t(3;20)(q21;q13)]  
Fusion : MitelmanSLC12A8/BFSP2 [3q21.2/3q22.1]  [t(3;3)(q21;q22)]  
Fusion: TCGASCAMP2 15q24.1 SLC12A8 3q21.2 BRCA
Fusion: TCGASLC12A8 3q21.2 BCAS1 20q13.2 LUSC
Fusion: TCGASLC12A8 3q21.2 BFSP2 3q22.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A8
dbVarSLC12A8
ClinVarSLC12A8
1000_GenomesSLC12A8 
Exome Variant ServerSLC12A8
ExAC (Exome Aggregation Consortium)SLC12A8 (select the gene name)
Genetic variants : HAPMAP84561
Genomic Variants (DGV)SLC12A8 [DGVbeta]
DECIPHER (Syndromes)3:124801480-124930243  ENSG00000221955
CONAN: Copy Number AnalysisSLC12A8 
Mutations
ICGC Data PortalSLC12A8 
TCGA Data PortalSLC12A8 
Broad Tumor PortalSLC12A8
OASIS PortalSLC12A8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A8
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 SLC12A8
DgiDB (Drug Gene Interaction Database)SLC12A8
DoCM (Curated mutations)SLC12A8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A8 (select a term)
intoGenSLC12A8
Cancer3DSLC12A8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611316   
Orphanet
MedgenSLC12A8
Genetic Testing Registry SLC12A8
NextProtA0AV02 [Medical]
TSGene84561
GENETestsSLC12A8
Huge Navigator SLC12A8 [HugePedia]
snp3D : Map Gene to Disease84561
BioCentury BCIQSLC12A8
ClinGenSLC12A8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84561
Chemical/Pharm GKB GenePA37991
Clinical trialSLC12A8
Miscellaneous
canSAR (ICR)SLC12A8 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A8
EVEXSLC12A8
GoPubMedSLC12A8
iHOPSLC12A8
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 13:27:30 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.