SLC4A11 Gene - Sodium Bicarbonate Transporter-Like Protein 11
Essential for corneal endothelial function and associated with corneal dystrophies and deafness
Gene Information Card
| Symbol | SLC4A11 |
|---|---|
| Full Name | Solute Carrier Family 4 Member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 83959 ncbi.nlm.nih.gov/gene/83959 |
| Ensembl ID | ENSG00000101230 |
| UniProt ID | Q8N697 |
| OMIM ID | 610206 |
| HGNC ID | 10988 |
| Aliases | BTR1, CHED, CHED2, dJ794I6.2, NABC1, RP38 |
Description
SLC4A11 encodes a member of the solute carrier family 4 (SLC4) of bicarbonate transporters. The protein functions as an electrogenic Na+-coupled borate transporter and also mediates Na+-independent water and ammonia transport. It is highly expressed in corneal endothelium, where it is critical for maintaining corneal transparency and hydration. Mutations in SLC4A11 cause autosomal recessive congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome (corneal dystrophy with sensorineural deafness).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hereditary endothelial dystrophy (CHED) | Loss-of-function mutations impair bicarbonate/borate transport, leading to corneal endothelial dysfunction and edema | ClinVar, OMIM #217700 |
| Harboyan syndrome (corneal dystrophy with deafness) | Same loss-of-function mechanism, with additional cochlear involvement causing sensorineural hearing loss | OMIM #217400 |
| Fuchs endothelial corneal dystrophy (late-onset) | Rare missense variants may contribute to endothelial cell loss and corneal guttata | ClinVar, literature |
| Deafness, autosomal recessive 38 (DFNB38) | SLC4A11 mutations cause nonsyndromic hearing loss without corneal involvement | OMIM #610206 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | Corneal endothelium |
| Kidney | Moderate | Cortical tubules |
| Lung | Low | - |
| Trachea | Low | - |
| Thyroid | Low | - |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Corneal endothelial cells | High | Primary cell type |
| HEK293 | Moderate | Transfected models |
| ARPE-19 (retinal pigment epithelium) | Low | - |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1642C>T (p.Arg548Trp) | Missense | Common in CHED | Loss of function |
| c.2269C>T (p.Arg757*) | Nonsense | Reported | Truncation, loss of function |
| c.1921G>A (p.Gly641Arg) | Missense | Rare | Impaired trafficking |
| c.1313C>T (p.Thr438Met) | Missense | Reported in Harboyan syndrome | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLC4A11 mutations cause loss of transport activity, leading to corneal endothelial dystrophy and deafness.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015293 - symporter activity | • GO:0015377 - sodium:bicarbonate symporter activity |
| • GO:0015379 - sodium:borate symporter activity | • GO:0005886 - plasma membrane |
| • GO:0016324 - apical plasma membrane | • GO:0006814 - sodium ion transport |
| • GO:0015701 - bicarbonate transport | • GO:0007626 - locomotory behavior |
| • GO:0007605 - sensory perception of sound |
Pathways
• SLC4-mediated bicarbonate transport (Reactome: R-HSA-425393)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
SLC4A11 is a 891-amino acid transmembrane protein with 10-14 predicted helices. It functions as an electrogenic Na+-coupled borate transporter and also facilitates water and ammonia transport. The protein is essential for corneal endothelial pump function, maintaining stromal hydration and transparency. Mutations disrupt ion and water homeostasis, leading to corneal edema and endothelial cell loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC4A11 Knockout HEK293 Cell Line | EDJ-KQ9948 | Human | 83959 | Details Get a Quote |
| SLC4A11 Knockout A-549 Cell Line | EDJ-KQ36853 | Human | 83959 | Details Get a Quote |
| SLC4A11 Knockout HCT 116 Cell Line | EDC08649 | Human | 83959 | Details Get a Quote |
| SLC4A11 Knockout HeLa Cell Line | EDJ-KQ36855 | Human | 83959 | Details Get a Quote |
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