Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC26A5 (solute carrier family 26 member 5)

Identity

Alias_namesneurosensory
autosomal recessive
Alias_symbol (synonym)DFNB61
Other aliasPRES
HGNC (Hugo) SLC26A5
LocusID (NCBI) 375611
Atlas_Id 51370
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 103014655 and ends at 103086624 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DNAJC2 (7q22.1) / SLC26A5 (7q22.1)DNAJC2 7q22.1 / SLC26A5 7q22.1

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

 


External links

Nomenclature
HGNC (Hugo)SLC26A5   9359
Cards
Entrez_Gene (NCBI)SLC26A5  375611  solute carrier family 26 member 5
AliasesDFNB61; PRES
GeneCards (Weizmann)SLC26A5
Ensembl hg19 (Hinxton)ENSG00000170615 [Gene_View]  chr7:103014655-103086624 [Contig_View]  SLC26A5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000170615 [Gene_View]  chr7:103014655-103086624 [Contig_View]  SLC26A5 [Vega]
ICGC DataPortalENSG00000170615
TCGA cBioPortalSLC26A5
AceView (NCBI)SLC26A5
Genatlas (Paris)SLC26A5
WikiGenes375611
SOURCE (Princeton)SLC26A5
Genetics Home Reference (NIH)SLC26A5
Genomic and cartography
GoldenPath hg19 (UCSC)SLC26A5  -     chr7:103014655-103086624 -  7q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC26A5  -     7q22.1   [Description]    (hg38-Dec_2013)
EnsemblSLC26A5 - 7q22.1 [CytoView hg19]  SLC26A5 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBISLC26A5 [Mapview hg19]  SLC26A5 [Mapview hg38]
OMIM604943   613865   
Gene and transcription
Genbank (Entrez)AF523354 AK126898 AY256823 AY256824 AY256825
RefSeq transcript (Entrez)NM_001167962 NM_001321787 NM_198999 NM_206883 NM_206884 NM_206885
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_023055 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)SLC26A5
Cluster EST : UnigeneHs.585146 [ NCBI ]
CGAP (NCI)Hs.585146
Alternative Splicing GalleryENSG00000170615
Gene ExpressionSLC26A5 [ NCBI-GEO ]   SLC26A5 [ EBI - ARRAY_EXPRESS ]   SLC26A5 [ SEEK ]   SLC26A5 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC26A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375611
GTEX Portal (Tissue expression)SLC26A5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP58743   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP58743  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP58743
Splice isoforms : SwissVarP58743
PhosPhoSitePlusP58743
Domaine pattern : Prosite (Expaxy)SLC26A (PS01130)    STAS (PS50801)   
Domains : Interpro (EBI)Prestin    S04_transporter_CS    SLC26A/SulP_dom    SLC26A/SulP_fam    STAS_dom   
Domain families : Pfam (Sanger)STAS (PF01740)    Sulfate_transp (PF00916)   
Domain families : Pfam (NCBI)pfam01740    pfam00916   
Conserved Domain (NCBI)SLC26A5
DMDM Disease mutations375611
Blocks (Seattle)SLC26A5
SuperfamilyP58743
Human Protein AtlasENSG00000170615
Peptide AtlasP58743
HPRD09224
IPIIPI00749380   IPI00470648   IPI00410491   IPI00654784   IPI00853632   IPI00853565   IPI00853132   IPI00852615   IPI00926164   IPI00925942   IPI00925707   IPI00925456   
Protein Interaction databases
DIP (DOE-UCLA)P58743
IntAct (EBI)P58743
FunCoupENSG00000170615
BioGRIDSLC26A5
STRING (EMBL)SLC26A5
ZODIACSLC26A5
Ontologies - Pathways
QuickGOP58743
Ontology : AmiGOresponse to ischemia  chloride channel activity  cytoplasm  integral component of plasma membrane  sensory perception of sound  transcription factor binding  secondary active sulfate transmembrane transporter activity  regulation of cell shape  response to salicylic acid  response to auditory stimulus  bicarbonate transmembrane transporter activity  sulfate transmembrane transporter activity  anion:anion antiporter activity  bicarbonate transport  fructose transport  basolateral plasma membrane  lateral plasma membrane  oxalate transmembrane transporter activity  oxalate transport  spectrin binding  negative regulation of ion transmembrane transport  response to potassium ion  regulation of membrane potential  response to drug  protein homodimerization activity  positive regulation of cell size  protein tetramerization  regulation of intracellular pH  cochlea development  response to thyroid hormone  response to salt  sulfate transmembrane transport  sulfate transmembrane transport  chloride transmembrane transport  positive regulation of cell motility  
Ontology : EGO-EBIresponse to ischemia  chloride channel activity  cytoplasm  integral component of plasma membrane  sensory perception of sound  transcription factor binding  secondary active sulfate transmembrane transporter activity  regulation of cell shape  response to salicylic acid  response to auditory stimulus  bicarbonate transmembrane transporter activity  sulfate transmembrane transporter activity  anion:anion antiporter activity  bicarbonate transport  fructose transport  basolateral plasma membrane  lateral plasma membrane  oxalate transmembrane transporter activity  oxalate transport  spectrin binding  negative regulation of ion transmembrane transport  response to potassium ion  regulation of membrane potential  response to drug  protein homodimerization activity  positive regulation of cell size  protein tetramerization  regulation of intracellular pH  cochlea development  response to thyroid hormone  response to salt  sulfate transmembrane transport  sulfate transmembrane transport  chloride transmembrane transport  positive regulation of cell motility  
NDEx NetworkSLC26A5
Atlas of Cancer Signalling NetworkSLC26A5
Wikipedia pathwaysSLC26A5
Orthology - Evolution
OrthoDB375611
GeneTree (enSembl)ENSG00000170615
Phylogenetic Trees/Animal Genes : TreeFamSLC26A5
HOVERGENP58743
HOGENOMP58743
Homologs : HomoloGeneSLC26A5
Homology/Alignments : Family Browser (UCSC)SLC26A5
Gene fusions - Rearrangements
Fusion : MitelmanDNAJC2/SLC26A5 [7q22.1/7q22.1]  [t(7;7)(q22;q22)]  
Fusion: TCGADNAJC2 7q22.1 SLC26A5 7q22.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC26A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC26A5
dbVarSLC26A5
ClinVarSLC26A5
1000_GenomesSLC26A5 
Exome Variant ServerSLC26A5
ExAC (Exome Aggregation Consortium)SLC26A5 (select the gene name)
Genetic variants : HAPMAP375611
Genomic Variants (DGV)SLC26A5 [DGVbeta]
DECIPHER (Syndromes)7:103014655-103086624  ENSG00000170615
CONAN: Copy Number AnalysisSLC26A5 
Mutations
ICGC Data PortalSLC26A5 
TCGA Data PortalSLC26A5 
Broad Tumor PortalSLC26A5
OASIS PortalSLC26A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC26A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC26A5
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 SLC26A5
DgiDB (Drug Gene Interaction Database)SLC26A5
DoCM (Curated mutations)SLC26A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC26A5 (select a term)
intoGenSLC26A5
Cancer3DSLC26A5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604943    613865   
Orphanet12047   
MedgenSLC26A5
Genetic Testing Registry SLC26A5
NextProtP58743 [Medical]
TSGene375611
GENETestsSLC26A5
Huge Navigator SLC26A5 [HugePedia]
snp3D : Map Gene to Disease375611
BioCentury BCIQSLC26A5
ClinGenSLC26A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375611
Chemical/Pharm GKB GenePA33731
Clinical trialSLC26A5
Miscellaneous
canSAR (ICR)SLC26A5 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC26A5
EVEXSLC26A5
GoPubMedSLC26A5
iHOPSLC26A5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:27:42 CET 2017

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