Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC26A4 (solute carrier family 26 (anion exchanger), member 4)

Identity

Other namesDFNB4
EVA
PDS
TDH2B
HGNC (Hugo) SLC26A4
LocusID (NCBI) 5172
Atlas_Id 45937
Location 7q22.3
Location_base_pair Starts at 107301080 and ends at 107358252 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
BRAF 7q34 / SLC26A4 7q22.3CBLL1 7q22.3 / SLC26A4 7q22.3

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)SLC26A4   8818
Cards
Entrez_Gene (NCBI)SLC26A4  5172  solute carrier family 26 (anion exchanger), member 4
GeneCards (Weizmann)SLC26A4
Ensembl hg19 (Hinxton)ENSG00000091137 [Gene_View]  chr7:107301080-107358252 [Contig_View]  SLC26A4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000091137 [Gene_View]  chr7:107301080-107358252 [Contig_View]  SLC26A4 [Vega]
ICGC DataPortalENSG00000091137
TCGA cBioPortalSLC26A4
AceView (NCBI)SLC26A4
Genatlas (Paris)SLC26A4
WikiGenes5172
SOURCE (Princeton)SLC26A4
Genomic and cartography
GoldenPath hg19 (UCSC)SLC26A4  -     chr7:107301080-107358252 +  7q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC26A4  -     7q22.3   [Description]    (hg38-Dec_2013)
EnsemblSLC26A4 - 7q22.3 [CytoView hg19]  SLC26A4 - 7q22.3 [CytoView hg38]
Mapping of homologs : NCBISLC26A4 [Mapview hg19]  SLC26A4 [Mapview hg38]
OMIM274600   600791   605646   
Gene and transcription
Genbank (Entrez)AF030880 AK294388 AK298543 AK300604 BC148375
RefSeq transcript (Entrez)NM_000441
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_008489 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)SLC26A4
Cluster EST : UnigeneHs.571246 [ NCBI ]
CGAP (NCI)Hs.571246
Alternative Splicing : Fast-db (Paris)GSHG0027643
Alternative Splicing GalleryENSG00000091137
Gene ExpressionSLC26A4 [ NCBI-GEO ]     SLC26A4 [ SEEK ]   SLC26A4 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5172
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43511 (Uniprot)
NextProtO43511  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43511
Splice isoforms : SwissVarO43511 (Swissvar)
PhosPhoSitePlusO43511
Domaine pattern : Prosite (Expaxy)SLC26A (PS01130)    STAS (PS50801)   
Domains : Interpro (EBI)Pendrin    S04_transporter_CS    STAS_dom    Sul_anion_transpt    Sulfate_tra_GLY    Sulph_transpt   
Domain families : Pfam (Sanger)STAS (PF01740)    Sulfate_tra_GLY (PF13792)    Sulfate_transp (PF00916)   
Domain families : Pfam (NCBI)pfam01740    pfam13792    pfam00916   
DMDM Disease mutations5172
Blocks (Seattle)SLC26A4
Human Protein AtlasENSG00000091137
Peptide AtlasO43511
HPRD05735
IPIIPI00012842   IPI01010356   IPI01014665   IPI01010760   IPI00925445   
Protein Interaction databases
DIP (DOE-UCLA)O43511
IntAct (EBI)O43511
FunCoupENSG00000091137
BioGRIDSLC26A4
IntegromeDBSLC26A4
STRING (EMBL)SLC26A4
ZODIACSLC26A4
Ontologies - Pathways
QuickGOO43511
Ontology : AmiGOchloride channel activity  plasma membrane  integral component of plasma membrane  ion transport  regulation of pH  sensory perception of sound  secondary active sulfate transmembrane transporter activity  sulfate transport  bicarbonate transmembrane transporter activity  chloride transmembrane transporter activity  iodide transmembrane transporter activity  sulfate transmembrane transporter activity  anion:anion antiporter activity  inorganic anion transport  bicarbonate transport  iodide transport  integral component of membrane  apical plasma membrane  apical plasma membrane  oxalate transmembrane transporter activity  oxalate transport  brush border membrane  regulation of protein localization  regulation of membrane potential  regulation of intracellular pH  transmembrane transport  extracellular exosome  sulfate transmembrane transport  sulfate transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBIchloride channel activity  plasma membrane  integral component of plasma membrane  ion transport  regulation of pH  sensory perception of sound  secondary active sulfate transmembrane transporter activity  sulfate transport  bicarbonate transmembrane transporter activity  chloride transmembrane transporter activity  iodide transmembrane transporter activity  sulfate transmembrane transporter activity  anion:anion antiporter activity  inorganic anion transport  bicarbonate transport  iodide transport  integral component of membrane  apical plasma membrane  apical plasma membrane  oxalate transmembrane transporter activity  oxalate transport  brush border membrane  regulation of protein localization  regulation of membrane potential  regulation of intracellular pH  transmembrane transport  extracellular exosome  sulfate transmembrane transport  sulfate transmembrane transport  chloride transmembrane transport  
Pathways : KEGGThyroid hormone synthesis   
Protein Interaction DatabaseSLC26A4
Atlas of Cancer Signalling NetworkSLC26A4
Wikipedia pathwaysSLC26A4
Orthology - Evolution
OrthoDB5172
GeneTree (enSembl)ENSG00000091137
Phylogenetic Trees/Animal Genes : TreeFamSLC26A4
Homologs : HomoloGeneSLC26A4
Homology/Alignments : Family Browser (UCSC)SLC26A4
Gene fusions - Rearrangements
Fusion: TCGABRAF 7q34 SLC26A4 7q22.3 LUSC
Fusion: TCGACBLL1 7q22.3 SLC26A4 7q22.3 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerSLC26A4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC26A4
dbVarSLC26A4
ClinVarSLC26A4
1000_GenomesSLC26A4 
Exome Variant ServerSLC26A4
Exome Aggregation Consortium (ExAC)ENSG00000091137
SNP (GeneSNP Utah)SLC26A4
SNP : HGBaseSLC26A4
Genetic variants : HAPMAPSLC26A4
Genomic Variants (DGV)SLC26A4 [DGVbeta]
Mutations
ICGC Data PortalSLC26A4 
TCGA Data PortalSLC26A4 
Tumor PortalSLC26A4
TCGA Copy Number PortalSLC26A4
Somatic Mutations in Cancer : COSMICSLC26A4 
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
LOVD (Leiden Open Variation Database)Retinal and hearing impairment genetic mutation database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC26A4
DgiDB (Drug Gene Interaction Database)SLC26A4
DoCM (Curated mutations)SLC26A4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC26A4 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:107301080-107358252
CONAN: Copy Number AnalysisSLC26A4 
Mutations and Diseases : HGMDSLC26A4
OMIM274600    600791    605646   
MedgenSLC26A4
NextProtO43511 [Medical]
TSGene5172
GENETestsSLC26A4
Huge Navigator SLC26A4 [HugePedia]  SLC26A4 [HugeCancerGEM]
snp3D : Map Gene to Disease5172
BioCentury BCIQSLC26A4
General knowledge
Chemical/Protein Interactions : CTD5172
Chemical/Pharm GKB GenePA35506
Clinical trialSLC26A4
Other databases
Probes
Litterature
PubMed210 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC26A4
GoPubMedSLC26A4
iHOPSLC26A4
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 : Sat Jan 16 19:30:26 CET 2016

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