SLC4A10
Chr 2ARsolute carrier family 4 member 10
Also known as: NBCn2, NCBE
This sodium/bicarbonate cotransporter regulates intracellular pH in neurons, contributes to cerebrospinal fluid secretion, and modulates GABA release and synaptic plasticity. Biallelic mutations cause a neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, inherited in an autosomal recessive pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.375), reflecting its critical role in neuronal pH regulation.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
182 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 5 | 19 | 0 | 25 |
Likely Pathogenic | 6 | 1 | 6 | 0 | 13 |
VUS | 4 | 108 | 5 | 1 | 118 |
Likely Benign | 0 | 2 | 1 | 14 | 17 |
Benign | 0 | 1 | 0 | 4 | 5 |
| Total | 11 | 117 | 31 | 19 | 178 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC4A10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools