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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SLC4A10
solute carrier family 4 member 10
Chromosome 2 Β· 2q24.2
NCBI Gene: 57282Ensembl: ENSG00000144290.17HGNC: HGNC:13811UniProt: C9J240
23PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sodium:bicarbonate symporter activityplasma membranesynapseaxon terminusneurodevelopmental disorder with hypotonia and characteristic brain abnormalitieshypertensionIncreased blood pressurecomplex neurodevelopmental disorder
✦AI Summary

SLC4A10 is a sodium-coupled bicarbonate transporter that plays critical roles in pH regulation and neuronal function 1. The protein localizes to inhibitory presynapses in neurons and the basolateral membrane of choroid plexus epithelial cells, where it mediates cellular HCO3- uptake to control intracellular pH 23. SLC4A10 is essential for cerebrospinal fluid production, as knockout mice exhibit dramatically reduced brain ventricle volume 3. The transporter specifically regulates GABAergic neurotransmission by controlling presynaptic pH, which is necessary for proper GABA release, while glutamate release remains unaffected 2. Loss of SLC4A10 function reduces neuronal excitability and modulates short-term synaptic plasticity, providing protection against epileptic seizures 34. Biallelic loss-of-function variants in SLC4A10 cause a recognizable neurodevelopmental disorder characterized by hypotonia, developmental delays, intellectual disability, progressive microcephaly, and characteristic brain abnormalities including slit-like lateral ventricles 25. The disorder commonly includes autistic spectrum features and occasional seizures, reflecting the transporter's crucial role in brain development and GABAergic transmission 2. SLC4A10 variants are also associated with systemic water balance regulation through central nervous system mechanisms 6.

Sources cited
1
SLC4A10 is a sodium-coupled bicarbonate transporter in the SLC4 family
PMID: 25428855
2
SLC4A10 localizes to inhibitory presynapses and is essential for GABA release
PMID: 37459438
3
SLC4A10 knockout mice have reduced brain ventricles and reduced neuronal excitability
PMID: 18165320
4
SLC4A10 disruption modulates synaptic short-term plasticity
PMID: 26136660
5
Biallelic SLC4A10 variants cause neurodevelopmental disorder with brain abnormalities
PMID: 38054405
6
SLC4A10 variants are associated with systemic water balance regulation
PMID: 28360221
Disease Associationsβ“˜21
neurodevelopmental disorder with hypotonia and characteristic brain abnormalitiesOpen Targets
0.80Strong
hypertensionOpen Targets
0.50Moderate
Increased blood pressureOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
essential hypertensionOpen Targets
0.30Weak
cardiovascular diseaseOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.30Weak
prostatitisOpen Targets
0.28Weak
hyperpituitarismOpen Targets
0.25Weak
intelligenceOpen Targets
0.25Weak
digestive system neoplasmOpen Targets
0.24Weak
mixed connective tissue diseaseOpen Targets
0.24Weak
COVID-19Open Targets
0.22Weak
severe acute respiratory syndromeOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
mathematical abilityOpen Targets
0.18Weak
schizophreniaOpen Targets
0.18Weak
anemiaOpen Targets
0.17Weak
chronic kidney diseaseOpen Targets
0.17Weak
smoking behaviorOpen Targets
0.17Weak
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalitiesUniProt
Pathogenic Variants13
NM_001178015.2(SLC4A10):c.2269C>T (p.Arg757Ter)Pathogenic
SLC4A10-related neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜…β˜…β˜†β˜†2024β†’ Residue 757
NM_001178015.2(SLC4A10):c.2863-2A>CPathogenic
SLC4A10-related neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜…β˜…β˜†β˜†2024
NM_001178015.2(SLC4A10):c.874del (p.Gln292fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 292
NM_001178015.2(SLC4A10):c.858+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001178015.2(SLC4A10):c.3160-2_3160-1insCLikely pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜…β˜†β˜†β˜†2024
NM_001178015.2(SLC4A10):c.2184G>A (p.Trp728Ter)Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 728
NM_001178015.2(SLC4A10):c.2619G>A (p.Trp873Ter)Likely pathogenic
SLC4A10-related neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜…β˜†β˜†β˜†2022β†’ Residue 873
NM_001178015.2(SLC4A10):c.2894C>T (p.Pro965Leu)Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 965
NM_001178015.2(SLC4A10):c.1052G>C (p.Arg351Thr)Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 351
NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 622
NM_001178015.2(SLC4A10):c.2162A>G (p.Tyr721Cys)Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 721
NM_001178015.2(SLC4A10):c.667C>T (p.His223Tyr)Pathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 223
NM_001178015.2(SLC4A10):c.417-1341delPathogenic
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
β˜†β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
SLC4A5Shared pathway60%SLC4A9Shared pathway50%SLC4A1Shared pathway40%SLC4A7Shared pathway36%SLC4A4Shared pathway36%SLC4A3Shared pathway31%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
6%
Liver
1%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC4A10SLC4A5SLC4A9SLC4A1SLC4A7SLC4A4SLC4A3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6U841
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.22–0.40]
RankingsWhere SLC4A10 stands among ~20K protein-coding genes
  • #13,522of 20,598
    Most Researched23
  • #2,635of 5,498
    Most Pathogenic Variants13
  • #2,038of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedSLC4A10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cation-coupled bicarbonate transporters.
PMID: 25428855
Compr Physiol Β· 2014
1.00
2
Single-Cell Transcriptomics Reveals Crucial Cell Subsets and Functional Heterogeneity Associated With Carotid Atherosclerosis and Cerebrovascular Events.
PMID: 37881939
Arterioscler Thromb Vasc Biol Β· 2023
0.90
3
Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
PMID: 18165320
Proc Natl Acad Sci U S A Β· 2008
0.80
4
SLC4A10 impedes atherosclerosis by diminishing IFN-Ξ³/GZMB levels of CD8
PMID: 40510365
Front Immunol Β· 2025
0.70
5
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
PMID: 37459438
Brain Β· 2023
0.60