SLC4A10 Gene

HGNC Family	Solute carriers (SLC)
Name	solute carrier family 4, sodium bicarbonate transporter, member 10
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC4A10 encodes a plasma membrane‐bound, sodium‐dependent bicarbonate transporter that mediates electroneutral HCO₃⁻ uptake, thereby facilitating cellular acid extrusion and intracellular pH regulation. Early studies in rodents and humans identified alternatively spliced transcript variants predominantly expressed in the brain, and functional assays in heterologous systems ultimately re‐defined its activity as that of the second electroneutral Na/HCO₃ cotransporter (NBCn2). These findings also highlighted its expression in key brain regions—including principal neurons and epithelial cells of the choroid plexus—suggesting a role in both synaptic function and cerebrospinal fluid (CSF) production."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic disruptions of SLC4A10 have been implicated in neurological and systemic water balance abnormalities. In one clinical investigation, a de novo balanced chromosomal translocation that likely disrupts SLC4A10 was observed in a patient with partial frontal lobe epilepsy and cognitive impairment, pointing to its contribution to normal neurological development. Moreover, genome‐wide association studies have identified variants within a putative regulatory motif in SLC4A10 that may influence its expression in the central nervous system, thereby affecting systemic water homeostasis, while separate analyses have also explored its potential association with primary open‐angle glaucoma."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRecent comprehensive studies have established that biallelic loss‐of‐function variants in SLC4A10 cause a clinically recognizable neurodevelopmental disorder. Affected individuals often present with early hypotonia, delayed psychomotor development, intellectual impairment, and features associated with autistic spectrum disorder, frequently accompanied by progressive postnatal microcephaly and characteristic neuroimaging findings such as collapsed lateral brain ventricles. Supporting these clinical observations, Slc4a10 knockout mice display a similar phenotype, including ventricular collapse, impaired inhibitory neurotransmission—primarily attributable to compromised GABA release—and subtle behavioral abnormalities, thereby underscoring the critical role of SLC4A10 in synaptic regulation and CSF dynamics during brain development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mark D Parker, Raif Musa-Aziz, Jose D Rojas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of human SLC4A10 as an electroneutral Na/HCO3 cotransporter (NBCn2) with Cl- self-exchange activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M707829200"}], "href": "https://doi.org/10.1074/jbc.M707829200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18319254"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18319254"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christina A Gurnett, Rose Veile, John Zempel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Neurol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archneur.65.4.550"}], "href": "https://doi.org/10.1001/archneur.65.4.550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18413482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18413482"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Carsten A Böger, Mathias Gorski, Gearoid M McMahon, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "NFAT5"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC4A10"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Loci Associate with Plasma Osmolality."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Soc Nephrol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1681/ASN.2016080892"}], "href": "https://doi.org/10.1681/ASN.2016080892"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28360221"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28360221"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Wenjing Liu, Yutao Liu, Xue-Jun Qin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2010)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20101282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20101282"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "James Fasham, Antje K Huebner, Lutz Liebmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awad235"}], "href": "https://doi.org/10.1093/brain/awad235"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37459438"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37459438"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gim.2023.101034"}], "href": "https://doi.org/10.1016/j.gim.2023.101034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38054405"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38054405"}]}]}]}
Synonyms	NBCN2, NCBE
Proteins	S4A10_HUMAN
NCBI Gene ID	57282
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SLC4A10 has 4,164 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 111 datasets.

Click the + buttons to view associations for SLC4A10 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SLC4A10 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC4A10 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC4A10 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SLC4A10 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SLC4A10 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SLC4A10 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SLC4A10 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SLC4A10 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SLC4A10 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SLC4A10 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC4A10 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SLC4A10 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC4A10 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SLC4A10 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SLC4A10 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SLC4A10 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of SLC4A10 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SLC4A10 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SLC4A10 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SLC4A10 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SLC4A10 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SLC4A10 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SLC4A10 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with SLC4A10 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SLC4A10 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SLC4A10 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SLC4A10 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SLC4A10 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SLC4A10 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SLC4A10 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for SLC4A10 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SLC4A10 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC4A10 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SLC4A10 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	GAD Gene-Disease Associations	diseases associated with SLC4A10 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with SLC4A10 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SLC4A10 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SLC4A10 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SLC4A10 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of SLC4A10 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of SLC4A10 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.