Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC12A5 (solute carrier family 12 member 5)

Identity

Alias_namessolute carrier family 12 (potassium/chloride transporter)
Alias_symbol (synonym)KIAA1176
KCC2
Other aliasEIEE34
EIG14
hKCC2
HGNC (Hugo) SLC12A5
LocusID (NCBI) 57468
Atlas_Id 52751
Location 20q13.12  [Link to chromosome band 20q13]
Location_base_pair Starts at 46029182 and ends at 46060150 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ZNF350 (19q13.41) / SLC12A5 (20q13.12)ZNF350 19q13.41 / SLC12A5 20q13.12

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 ]
  t(19;20)(q13;q13) ZNF350/SLC12A5


External links

Nomenclature
HGNC (Hugo)SLC12A5   13818
Cards
Entrez_Gene (NCBI)SLC12A5  57468  solute carrier family 12 member 5
AliasesEIEE34; EIG14; KCC2; hKCC2
GeneCards (Weizmann)SLC12A5
Ensembl hg19 (Hinxton)ENSG00000124140 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124140 [Gene_View]  ENSG00000124140 [Sequence]  chr20:46029182-46060150 [Contig_View]  SLC12A5 [Vega]
ICGC DataPortalENSG00000124140
TCGA cBioPortalSLC12A5
AceView (NCBI)SLC12A5
Genatlas (Paris)SLC12A5
WikiGenes57468
SOURCE (Princeton)SLC12A5
Genetics Home Reference (NIH)SLC12A5
Genomic and cartography
GoldenPath hg38 (UCSC)SLC12A5  -     chr20:46029182-46060150 +  20q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC12A5  -     20q13.12   [Description]    (hg19-Feb_2009)
EnsemblSLC12A5 - 20q13.12 [CytoView hg19]  SLC12A5 - 20q13.12 [CytoView hg38]
Mapping of homologs : NCBISLC12A5 [Mapview hg19]  SLC12A5 [Mapview hg38]
OMIM606726   616645   616685   
Gene and transcription
Genbank (Entrez)AB033002 AF208159 AK055066 AK098371 AK289758
RefSeq transcript (Entrez)NM_001134771 NM_020708
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC12A5
Cluster EST : UnigeneHs.21413 [ NCBI ]
CGAP (NCI)Hs.21413
Alternative Splicing GalleryENSG00000124140
Gene ExpressionSLC12A5 [ NCBI-GEO ]   SLC12A5 [ EBI - ARRAY_EXPRESS ]   SLC12A5 [ SEEK ]   SLC12A5 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57468
GTEX Portal (Tissue expression)SLC12A5
Human Protein AtlasENSG00000124140-SLC12A5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2X9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2X9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2X9
Splice isoforms : SwissVarQ9H2X9
PhosPhoSitePlusQ9H2X9
Domains : Interpro (EBI)AA-permease/SLC12A_dom    KCC2    KCL_cotranspt    SLC12_C    SLC12A_fam   
Domain families : Pfam (Sanger)AA_permease (PF00324)    SLC12 (PF03522)   
Domain families : Pfam (NCBI)pfam00324    pfam03522   
Conserved Domain (NCBI)SLC12A5
DMDM Disease mutations57468
Blocks (Seattle)SLC12A5
SuperfamilyQ9H2X9
Human Protein Atlas [tissue]ENSG00000124140-SLC12A5 [tissue]
Peptide AtlasQ9H2X9
HPRD09469
IPIIPI00877110   IPI00301180   IPI00921814   IPI00922173   IPI00922283   IPI00921156   IPI00916842   IPI00797609   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2X9
IntAct (EBI)Q9H2X9
FunCoupENSG00000124140
BioGRIDSLC12A5
STRING (EMBL)SLC12A5
ZODIACSLC12A5
Ontologies - Pathways
QuickGOQ9H2X9
Ontology : AmiGOplasma membrane  integral component of plasma membrane  ion transport  ion transport  cellular ion homeostasis  cell volume homeostasis  hypotonic response  chemical synaptic transmission  learning  chloride transmembrane transporter activity  potassium:chloride symporter activity  potassium:chloride symporter activity  potassium:chloride symporter activity  integral component of membrane  cellular chloride ion homeostasis  multicellular organism growth  thermosensory behavior  response to drug  chloride ion homeostasis  potassium ion homeostasis  dendritic spine development  chloride transmembrane transport  potassium ion import across plasma membrane  
Ontology : EGO-EBIplasma membrane  integral component of plasma membrane  ion transport  ion transport  cellular ion homeostasis  cell volume homeostasis  hypotonic response  chemical synaptic transmission  learning  chloride transmembrane transporter activity  potassium:chloride symporter activity  potassium:chloride symporter activity  potassium:chloride symporter activity  integral component of membrane  cellular chloride ion homeostasis  multicellular organism growth  thermosensory behavior  response to drug  chloride ion homeostasis  potassium ion homeostasis  dendritic spine development  chloride transmembrane transport  potassium ion import across plasma membrane  
Pathways : KEGGGABAergic synapse   
NDEx NetworkSLC12A5
Atlas of Cancer Signalling NetworkSLC12A5
Wikipedia pathwaysSLC12A5
Orthology - Evolution
OrthoDB57468
GeneTree (enSembl)ENSG00000124140
Phylogenetic Trees/Animal Genes : TreeFamSLC12A5
HOVERGENQ9H2X9
HOGENOMQ9H2X9
Homologs : HomoloGeneSLC12A5
Homology/Alignments : Family Browser (UCSC)SLC12A5
Gene fusions - Rearrangements
Fusion : MitelmanZNF350/SLC12A5 [19q13.41/20q13.12]  [t(19;20)(q13;q13)]  
Fusion PortalZNF350 19q13.41 SLC12A5 20q13.12 OV
Fusion : QuiverSLC12A5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A5
dbVarSLC12A5
ClinVarSLC12A5
1000_GenomesSLC12A5 
Exome Variant ServerSLC12A5
ExAC (Exome Aggregation Consortium)ENSG00000124140
GNOMAD BrowserENSG00000124140
Varsome BrowserSLC12A5
Genetic variants : HAPMAP57468
Genomic Variants (DGV)SLC12A5 [DGVbeta]
DECIPHERSLC12A5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC12A5 
Mutations
ICGC Data PortalSLC12A5 
TCGA Data PortalSLC12A5 
Broad Tumor PortalSLC12A5
OASIS PortalSLC12A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A5
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 SLC12A5
DgiDB (Drug Gene Interaction Database)SLC12A5
DoCM (Curated mutations)SLC12A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A5 (select a term)
intoGenSLC12A5
Cancer3DSLC12A5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606726    616645    616685   
Orphanet20841   
DisGeNETSLC12A5
MedgenSLC12A5
Genetic Testing Registry SLC12A5
NextProtQ9H2X9 [Medical]
TSGene57468
GENETestsSLC12A5
Target ValidationSLC12A5
Huge Navigator SLC12A5 [HugePedia]
snp3D : Map Gene to Disease57468
BioCentury BCIQSLC12A5
ClinGenSLC12A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57468
Chemical/Pharm GKB GenePA37814
Clinical trialSLC12A5
Miscellaneous
canSAR (ICR)SLC12A5 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A5
EVEXSLC12A5
GoPubMedSLC12A5
iHOPSLC12A5
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 Nov 6 11:39:21 CET 2018

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