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SLC12A7 (solute carrier family 12 member 7)

Identity

Alias_namessolute carrier family 12 (potassium/chloride transporter)
Alias_symbol (synonym)KCC4
DKFZP434F076
Other alias
HGNC (Hugo) SLC12A7
LocusID (NCBI) 10723
Atlas_Id 46549
Location 5p15.33  [Link to chromosome band 5p15]
Location_base_pair Starts at 1050489 and ends at 1112172 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SLC12A7 (5p15.33) / AAMDC (11q14.1)SLC12A7 (5p15.33) / NEAT1 (11q13.1)SLC12A7 (5p15.33) / NUDCD3 (7p13)
SLC12A7 (5p15.33) / RASGEF1C (5q35.3)SLC12A7 (5p15.33) / TMEM117 (12q12)SLC25A3 (12q23.1) / SLC12A7 (5p15.33)
SLC35B1 (17q21.33) / SLC12A7 (5p15.33)TAF1A (1q41) / SLC12A7 (5p15.33)ZNF354A (5q35.3) / SLC12A7 (5p15.33)
SLC12A7 5p15.33 / RASGEF1C 5q35.3SLC12A7 5p15.33 / TMEM117 12q12TAF1A 1q41 / SLC12A7 5p15.33
ZNF354A 5q35.3 / SLC12A7 5p15.33

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)SLC12A7   10915
Cards
Entrez_Gene (NCBI)SLC12A7  10723  solute carrier family 12 member 7
AliasesKCC4
GeneCards (Weizmann)SLC12A7
Ensembl hg19 (Hinxton)ENSG00000113504 [Gene_View]  chr5:1050489-1112172 [Contig_View]  SLC12A7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000113504 [Gene_View]  chr5:1050489-1112172 [Contig_View]  SLC12A7 [Vega]
ICGC DataPortalENSG00000113504
TCGA cBioPortalSLC12A7
AceView (NCBI)SLC12A7
Genatlas (Paris)SLC12A7
WikiGenes10723
SOURCE (Princeton)SLC12A7
Genetics Home Reference (NIH)SLC12A7
Genomic and cartography
GoldenPath hg19 (UCSC)SLC12A7  -     chr5:1050489-1112172 -  5p15.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC12A7  -     5p15.33   [Description]    (hg38-Dec_2013)
EnsemblSLC12A7 - 5p15.33 [CytoView hg19]  SLC12A7 - 5p15.33 [CytoView hg38]
Mapping of homologs : NCBISLC12A7 [Mapview hg19]  SLC12A7 [Mapview hg38]
OMIM604879   
Gene and transcription
Genbank (Entrez)AF105365 AK024493 AK024497 AK026625 AK302856
RefSeq transcript (Entrez)NM_006598
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_006576 NT_187548 NW_004929321
Consensus coding sequences : CCDS (NCBI)SLC12A7
Cluster EST : UnigeneHs.172613 [ NCBI ]
CGAP (NCI)Hs.172613
Alternative Splicing GalleryENSG00000113504
Gene ExpressionSLC12A7 [ NCBI-GEO ]   SLC12A7 [ EBI - ARRAY_EXPRESS ]   SLC12A7 [ SEEK ]   SLC12A7 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC12A7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10723
GTEX Portal (Tissue expression)SLC12A7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y666   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y666  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y666
Splice isoforms : SwissVarQ9Y666
PhosPhoSitePlusQ9Y666
Domains : Interpro (EBI)AA-permease/SLC12A_dom    KCC4    KCL_cotranspt    SLC12_C    SLC12A_fam   
Domain families : Pfam (Sanger)AA_permease (PF00324)    SLC12 (PF03522)   
Domain families : Pfam (NCBI)pfam00324    pfam03522   
Conserved Domain (NCBI)SLC12A7
DMDM Disease mutations10723
Blocks (Seattle)SLC12A7
SuperfamilyQ9Y666
Human Protein AtlasENSG00000113504
Peptide AtlasQ9Y666
HPRD09221
IPIIPI00008616   IPI00218550   IPI00911106   IPI00977822   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y666
IntAct (EBI)Q9Y666
FunCoupENSG00000113504
BioGRIDSLC12A7
STRING (EMBL)SLC12A7
ZODIACSLC12A7
Ontologies - Pathways
QuickGOQ9Y666
Ontology : AmiGOplasma membrane  integral component of plasma membrane  transport  ion transport  cell volume homeostasis  synaptic transmission  potassium:chloride symporter activity  protein kinase binding  potassium ion symporter activity  potassium ion transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBIplasma membrane  integral component of plasma membrane  transport  ion transport  cell volume homeostasis  synaptic transmission  potassium:chloride symporter activity  protein kinase binding  potassium ion symporter activity  potassium ion transmembrane transport  chloride transmembrane transport  
Pathways : KEGGCollecting duct acid secretion   
NDEx NetworkSLC12A7
Atlas of Cancer Signalling NetworkSLC12A7
Wikipedia pathwaysSLC12A7
Orthology - Evolution
OrthoDB10723
GeneTree (enSembl)ENSG00000113504
Phylogenetic Trees/Animal Genes : TreeFamSLC12A7
HOVERGENQ9Y666
HOGENOMQ9Y666
Homologs : HomoloGeneSLC12A7
Homology/Alignments : Family Browser (UCSC)SLC12A7
Gene fusions - Rearrangements
Fusion : MitelmanSLC12A7/AAMDC [5p15.33/11q14.1]  
Fusion : MitelmanSLC12A7/RASGEF1C [5p15.33/5q35.3]  [t(5;5)(p15;q35)]  
Fusion : MitelmanSLC12A7/TMEM117 [5p15.33/12q12]  [t(5;12)(p15;q12)]  
Fusion : MitelmanTAF1A/SLC12A7 [1q41/5p15.33]  [t(1;5)(q41;p15)]  
Fusion : MitelmanZNF354A/SLC12A7 [5q35.3/5p15.33]  [t(5;5)(p15;q35)]  
Fusion: TCGASLC12A7 5p15.33 RASGEF1C 5q35.3 LUAD
Fusion: TCGASLC12A7 5p15.33 TMEM117 12q12 LUAD
Fusion: TCGATAF1A 1q41 SLC12A7 5p15.33 HNSC
Fusion: TCGAZNF354A 5q35.3 SLC12A7 5p15.33 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC12A7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC12A7
dbVarSLC12A7
ClinVarSLC12A7
1000_GenomesSLC12A7 
Exome Variant ServerSLC12A7
ExAC (Exome Aggregation Consortium)SLC12A7 (select the gene name)
Genetic variants : HAPMAP10723
Genomic Variants (DGV)SLC12A7 [DGVbeta]
DECIPHER (Syndromes)5:1050489-1112172  ENSG00000113504
CONAN: Copy Number AnalysisSLC12A7 
Mutations
ICGC Data PortalSLC12A7 
TCGA Data PortalSLC12A7 
Broad Tumor PortalSLC12A7
OASIS PortalSLC12A7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC12A7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC12A7
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 SLC12A7
DgiDB (Drug Gene Interaction Database)SLC12A7
DoCM (Curated mutations)SLC12A7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC12A7 (select a term)
intoGenSLC12A7
Cancer3DSLC12A7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604879   
Orphanet
MedgenSLC12A7
Genetic Testing Registry SLC12A7
NextProtQ9Y666 [Medical]
TSGene10723
GENETestsSLC12A7
Huge Navigator SLC12A7 [HugePedia]
snp3D : Map Gene to Disease10723
BioCentury BCIQSLC12A7
ClinGenSLC12A7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10723
Chemical/Pharm GKB GenePA35809
Clinical trialSLC12A7
Miscellaneous
canSAR (ICR)SLC12A7 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC12A7
EVEXSLC12A7
GoPubMedSLC12A7
iHOPSLC12A7
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 : Thu Mar 30 15:19:28 CEST 2017

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