SLC4A11

Chr 20p13

solute carrier family 4 member 11

Aliases:: dJ794I6.2, BTR1, NaBC1, FECD4
MANE:: ENST00000642402.1

OMIM: 610206 ↗NCBI: 83959 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC4A11 · Q8NBS3

v62025-08-01

Predicted Aligned Error matrix for SLC4A11 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.0/ 100

Confident

875 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)50%
Low(50–70)11%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Corneal abnormalities
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal dystrophy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

corneal dystrophy, Fuchs endothelial, 4
0.81
congenital hereditary endothelial dystrophy of cornea
0.75
corneal dystrophy-perceptive deafness syndrome
0.72
Corneal dystrophy - perceptive deafness
0.71
corneal endothelial dystrophy
0.69
Fuchs endothelial corneal dystrophy
0.62
corneal dystrophy
0.50
hereditary disease
0.42
Abnormality of refraction
0.31
Sensorineural hearing impairment
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Solute carrier family 4 member 11

Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507). At early stages of stem cell differentiation, participates in synergy with ITGA5-ITGB1 and ITGAV-ITGB3 integrins and BMPR1A to promote cell adhesion and contractility that drives differentiation toward osteogenic commitment while inhibiting adipogenesis (By similarity). In the absence of B(OH)4(-), acts as a Na(+)-coupled OH(-) or H(+) permeable channel with implications in cellular redox balance (PubMed:15525507, PubMed:28642546). Regulates the oxidative stress response in corneal endothelium by enhancing antioxidant defenses and protecting cells from reactive oxygen species (PubMed:28642546). In response to hypo-osmotic challenge, also acts as a water permeable channel at the basolateral cell membrane of corneal endothelial cells and facilitates transendothelial fluid reabsorption in the aqueous humor (PubMed:23813972, PubMed:25007886, PubMed:31273259). In the presence of ammonia, acts as an electrogenic NH3/H(+) cotransporter and may play a role in ammonia transport and reabsorption in renal Henle's loop epithelium (PubMed:27581649)