Homo sapiens Gene: SLC26A4
Summary
InnateDB Gene IDBG-35677.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC26A4
Gene Name solute carrier family 26, member 4
Synonyms DFNB4; EVA; PDS; TDH2B
Species Homo sapiens
Ensembl Gene ENSG00000091137
Encoded Proteins
solute carrier family 26, member 4
solute carrier family 26, member 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3\' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:107660635-107717809
Strand Forward strand
Band q22.3
Transcripts
ENST00000265715 ENSP00000265715
ENST00000440056 ENSP00000394760
ENST00000477350
ENST00000497446
ENST00000480841
ENST00000460748
ENST00000492030
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 0
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008271 secondary active sulfate transmembrane transporter activity
GO:0015108 chloride transmembrane transporter activity
GO:0015111 iodide transmembrane transporter activity
GO:0015116 sulfate transmembrane transporter activity
Biological Process
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0006885 regulation of pH
GO:0007605 sensory perception of sound
GO:0008272 sulfate transport
GO:0015698 inorganic anion transport
GO:0015705 iodide transport
GO:0032880 regulation of protein localization
GO:0055085 transmembrane transport
GO:1902358 sulfate transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Multifunctional anion exchangers pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
Transmembrane transport of small molecules pathway
SLC-mediated transmembrane transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL C9JQG1
UniProt Splice Variant
Entrez Gene 5172
UniGene Hs.571246
RefSeq NM_000441 XM_005250425 XM_006716024
HUGO HGNC:8818
OMIM 605646
CCDS CCDS5746
HPRD 05735
IMGT
EMBL AC002467 AC078937
GenPept
RNA Seq Atlas 5172