InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC26A4

Summary

InnateDB Protein

IDBP-35679.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC26A4

Protein Name

solute carrier family 26, member 4

Synonyms

DFNB4; EVA; PDS; TDH2B;

Species

Homo sapiens

Ensembl Protein

ENSP00000265715

InnateDB Gene

IDBG-35677 (SLC26A4)

Protein Structure

UniProt Annotation

Function

Sodium-independent transporter of chloride and iodide. {ECO:0000269PubMed:10192399}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. {ECO:0000250}.

Disease Associations

Pendred syndrome (PDS) [MIM:274600]: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. {ECO:0000269PubMed:10602116, ECO:0000269PubMed:10718825, ECO:0000269PubMed:10878664, ECO:0000269PubMed:11317356, ECO:0000269PubMed:11375792, ECO:0000269PubMed:11748854, ECO:0000269PubMed:11919333, ECO:0000269PubMed:12788906, ECO:0000269PubMed:12974744, ECO:0000269PubMed:15355436, ECO:0000269PubMed:15531480, ECO:0000269PubMed:15689455, ECO:0000269PubMed:19204907, ECO:0000269PubMed:9398842, ECO:0000269PubMed:9618166, ECO:0000269PubMed:9618167}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct. {ECO:0000269PubMed:10190331, ECO:0000269PubMed:10700480, ECO:0000269PubMed:11748854, ECO:0000269PubMed:12676893, ECO:0000269PubMed:14508505, ECO:0000269PubMed:14679580, ECO:0000269PubMed:19204907, ECO:0000269PubMed:20108392, ECO:0000269PubMed:20597900, ECO:0000269PubMed:9500541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.

Comments

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