SLC4A10 Chromosome 2
Solute carrier family 4 member 10
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What This Gene Does
This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Solute carrier family 4
Locus Type
gene with protein product
Location
2q24.2
Ensembl
ENSG00000144290
Associated Conditions (2)
SLC4A10-related neurodevelopmental disorder
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Key Variants
RS1445215746
Likely pathogenic
SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, SLC4A10-related neurodevelopmental disorder
Health Risk
RS752869470
Likely pathogenic
Health Risk
RS1223068536
Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Health Risk
RS1694065388
Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Health Risk
RS2468189413
Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Health Risk
RS2470019177
Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Health Risk
RS2470273914
Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Health Risk
RS370148354
Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Health Risk
RS1694347562
Pathogenic/Likely pathogenic
SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, SLC4A10-related neurodevelopmental disorder
Health Risk
RS2468188834
Pathogenic/Likely pathogenic
SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, SLC4A10-related neurodevelopmental disorder
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1445215746 | Health Risk | Likely pathogenic | SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, SLC4A10-related neurodevelopmental disorder |
| RS752869470 | Health Risk | Likely pathogenic | — |
| RS1223068536 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| RS1694065388 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| RS2468189413 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| RS2470019177 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| RS2470273914 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| RS370148354 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
| RS1694347562 | Health Risk | Pathogenic/Likely pathogenic | SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, SLC4A10-related neurodevelopmental disorder |
| RS2468188834 | Health Risk | Pathogenic/Likely pathogenic | SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, SLC4A10-related neurodevelopmental disorder |