SLC26A4 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SLC26A4 |
| Official Name | solute carrier family 26 member 4 [Source:HGNC Symbol;Acc:HGNC:8818] |
| Ensembl ID | ENSG00000091137 |
| Bio databases IDs | |
| Aliases | solute carrier family 26 member 4, pendrin |
| Synonyms | DFNB4, EVA, PDS, pendrin, solute carrier family 26 member 4, solute carrier family 26, member 4, TDH2B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC26A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sulfate permease family
- sulfate transporter
- high affinity sulphate transporter 1
- protein binding
- chloride transporter
- bicarbonate transporter
- sulphate transporter and anti-sigma factor antagonist domain
- anion transporter
- PRK11660
- antiporter
- inorganic anion exchanger
- iodide transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness type 4
- autosomal recessive deafness
- Pendred syndrome
- asthma
- hearing loss
- SLC26A4-related disorder
- diabetic nephropathy
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
role in cell
- fusion
- abnormal morphology
- pH
- chloride/bicarbonate exchange in
- chloride thiocyanate exchange in
- degeneration
- chloride nitrate exchange in
- autophagy in
- chloride iodide exchange in
- autophagy
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- apical compartment
- cellular membrane
- apical cell surfaces
- apical membrane
- brush border
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC26A4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sulfate transport
- sensory perception of sound
- inorganic anion transport
- ion transport
- regulation of protein localization
- iodide transport
- oxalate transport
- bicarbonate transport
- regulation of pH
Cellular Component
Where in the cell the gene product is active
- brush border membrane
- extracellular vesicular exosome
- membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- secondary active sulfate transmembrane transporter activity
- protein binding
- iodide transmembrane transporter activity
- oxalate transmembrane transporter activity
- chloride transmembrane transporter activity
- bicarbonate transmembrane transporter activity
- sulfate transmembrane transporter activity