SLC26A7
Solute Carrier Family 26 Member 7
Gene Information Card
| Symbol | SLC26A7 |
|---|---|
| Full Name | Solute Carrier Family 26 Member 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 115111 ncbi.nlm.nih.gov/gene/115111 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | Q8TE54 |
| OMIM ID | 608479 |
| HGNC ID | 14467 |
| Aliases | SUT2, DKFZp686O24166 |
Description
SLC26A7 is a member of the solute carrier family 26 (SLC26) of anion transporters. It functions as a chloride/bicarbonate exchanger and is involved in ion homeostasis, particularly in the kidney, thyroid, and inner ear. Mutations in SLC26A7 are associated with nonsyndromic hearing loss and thyroid dyshormonogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive 110 (DFNB110) | Loss-of-function mutations impair anion transport in inner ear epithelial cells, disrupting endolymph pH and ion balance. | ClinVar, OMIM |
| Thyroid dyshormonogenesis 6 (TDH6) | Defective chloride/iodide transport in thyroid follicular cells leads to impaired iodide organification and congenital hypothyroidism. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Thyroid | 8.3 | Low |
| Testis | 6.1 | Low |
| Lung | 4.2 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| HepG2 | 3.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.416C>T (p.Pro139Leu) | Missense | <0.01% | Loss of function; associated with deafness |
| c.1195C>T (p.Arg399*) | Nonsense | <0.01% | Premature stop; loss of function; thyroid dyshormonogenesis |
| c.1343G>A (p.Arg448His) | Missense | <0.01% | Reduced transport activity; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in SLC26A7 result in loss of anion transport function, leading to deafness or thyroid disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC26A7.
Dominant Negative (DN)
No dominant-negative effects have been described for SLC26A7.
View complete mutation data：
Gene Ontology (GO)
| • inorganic anion exchanger activity (GO:0005452) | • bicarbonate transmembrane transporter activity (GO:0015106) |
| • bicarbonate transport (GO:0015701) | • plasma membrane (GO:0005886) |
| • apical plasma membrane (GO:0016324) |
Pathways
• Iodine metabolism (Reactome: R-HSA-8957322)
• Transport of inorganic cations/anions (Reactome: R-HSA-425393)
Protein Summary
SLC26A7 is a transmembrane protein belonging to the SLC26 family of anion exchangers. It mediates electroneutral exchange of chloride and bicarbonate, and can also transport iodide. The protein is localized to the apical membrane of epithelial cells in the kidney, thyroid, and inner ear, where it plays a critical role in ion homeostasis and acid-base balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A7 Knockout HEK293 Cell Line | EDJ-KQ7504 | Human | 115111 | Details Get a Quote |
| SLC26A7 Knockout HCT 116 Cell Line | EDJ-KQ32770 | Human | 115111 | Details Get a Quote |
| SLC26A7 Knockout HeLa Cell Line | EDJ-KQ57947 | Human | 115111 | Details Get a Quote |
| SLC26A7 Knockout A-549 Cell Line | EDJ-KQ66437 | Human | 115111 | Details Get a Quote |
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