SLC4A10

Chr 2

solute carrier family 4 member 10

Also known as: NBCn2, NCBE

NCBI Gene: 57282 ENSG00000144290 UniProt: Q6U841

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.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ARStrongappropriate for clinical testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429