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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC4A4
solute carrier family 4 member 4
Chromosome 4 · 4q13.3
NCBI Gene: 8671Ensembl: ENSG00000080493.20HGNC: HGNC:11030UniProt: A5JJ20
116PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of membrane potentialpositive regulation of glycolytic processregulation of intracellular pHtransmembrane transportautosomal recessive proximal renal tubular acidosisproximal renal tubular acidosisatrial fibrillationalcohol drinking
✦AI Summary

SLC4A4 (NBCe1) is an electrogenic sodium/bicarbonate cotransporter that mediates bicarbonate transport across the plasma membrane with Na⁺:HCO₃⁻ stoichiometry of 1:2 to 1:3 1. It functions primarily in regulating intracellular pH and transepithelial acid-base homeostasis by facilitating bicarbonate influx/efflux at the basolateral membrane 2. In epithelial tissues, SLC4A4 participates in transcellular acid-base transport and pH control, while in non-epithelial tissues it contributes to diverse functions including neuronal activity and vascular regulation 1. In pancreatic islets, SLC4A4 mediates anion efflux coupled with insulin secretion 3. Disease relevance extends beyond the classical proximal renal tubular acidosis-ocular anomaly syndrome to emerging oncological roles. SLC4A4 serves as a driver of enzalutamide resistance in prostate cancer through NF-κB/STAT3-mediated P53 lactylation 4, while upregulation promotes immune responses in lung adenocarcinoma 5. Conversely, SLC4A4 is downregulated in colorectal cancer through miRNA-mediated suppression 6. Astrocytic SLC4A4 maintains blood-brain barrier integrity via CCL2-CCR2 pathway regulation; its loss exacerbates stroke-induced BBB disruption 7. These findings suggest SLC4A4 has multifaceted roles in pH homeostasis, immune function, and CNS pathology, with emerging therapeutic potential across multiple disease contexts.

Sources cited
1
SLC4A4 is an electrogenic Na⁺:HCO₃⁻ cotransporter; primary function in acid-base homeostasis and intracellular pH regulation in epithelial and non-epithelial tissues
PMID: 25428855
2
SLC4A4 structure and function in bicarbonate transport and acid-base homeostasis; role in transepithelial movement of acid-base equivalents
PMID: 23177984
3
SLC4A4 expression in pancreatic islets; involvement in anion efflux during insulin secretion
PMID: 22415075
4
SLC4A4 is a novel driver of enzalutamide resistance in prostate cancer via NF-κB/STAT3/SLC4A4 axis and P53 lactylation
PMID: 38880227
5
SLC4A4 upregulation promotes CD8⁺ T cell responses and serves as a prognostic biomarker in lung adenocarcinoma
PMID: 39083932
6
SLC4A4 is downregulated in colorectal cancer through miR-106a-5p and miR-223-3p mediated suppression; diagnostic biomarker potential
PMID: 36468451
7
Astrocytic SLC4A4 regulates blood-brain barrier integrity through CCL2-CCR2 pathway and NO metabolism; loss exacerbates stroke-induced BBB disruption
PMID: 38709635
Disease Associationsⓘ21
autosomal recessive proximal renal tubular acidosisOpen Targets
0.81Strong
proximal renal tubular acidosisOpen Targets
0.55Moderate
atrial fibrillationOpen Targets
0.48Moderate
alcohol drinkingOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
infectious arthritisOpen Targets
0.32Weak
endocrine system diseaseOpen Targets
0.30Weak
idiopathic pulmonary arterial hypertensionOpen Targets
0.30Weak
joint diseaseOpen Targets
0.28Weak
placental retentionOpen Targets
0.27Weak
Combined oxidative phosphorylation defect type 24Open Targets
0.27Weak
mitochondrial oxidative phosphorylation disorderOpen Targets
0.27Weak
cystic kidney diseaseOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
hyperpituitarismOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
posterior cortical atrophyOpen Targets
0.10Suggestive
strokeOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Proximal renal tubular acidosis-ocular anomaly syndromeUniProt
Pathogenic Variants17
NM_001098484.3(SLC4A4):c.1677_1681del (p.Trp560fs)Likely pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2025→ Residue 560
NM_001098484.3(SLC4A4):c.1015G>A (p.Glu339Lys)Likely pathogenic
Combined oxidative phosphorylation defect type 24
★☆☆☆2025→ Residue 339
NM_001098484.3(SLC4A4):c.551-2A>GLikely pathogenic
not provided
★☆☆☆2025
NM_001098484.3(SLC4A4):c.*206G>APathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2024
NM_001098484.3(SLC4A4):c.1903+2T>ALikely pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2024
NM_001098484.3(SLC4A4):c.277C>T (p.Arg93Ter)Pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2024→ Residue 93
NM_001098484.3(SLC4A4):c.160A>T (p.Lys54Ter)Likely pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2024→ Residue 54
NM_001098484.3(SLC4A4):c.853del (p.Ser285fs)Likely pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2024→ Residue 285
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)Likely pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2023→ Residue 390
NM_001098484.3(SLC4A4):c.2017G>T (p.Glu673Ter)Likely pathogenic
SLC4A4-related disorder
★☆☆☆2023→ Residue 673
NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)Likely pathogenic
not provided|Autosomal recessive proximal renal tubular acidosis
★☆☆☆2023→ Residue 471
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)Pathogenic
Autosomal recessive proximal renal tubular acidosis
★☆☆☆2019→ Residue 277
NM_001098484.3(SLC4A4):c.842A>T (p.Asp281Val)Likely pathogenic
not provided
★☆☆☆→ Residue 281
NM_001098484.3(SLC4A4):c.2294del (p.Asn765fs)Pathogenic
Autosomal recessive proximal renal tubular acidosis
☆☆☆☆2024→ Residue 765
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter)Pathogenic
Autosomal recessive proximal renal tubular acidosis
☆☆☆☆2001→ Residue 29
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His)Pathogenic
Autosomal recessive proximal renal tubular acidosis
☆☆☆☆1999→ Residue 554
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser)Pathogenic
Autosomal recessive proximal renal tubular acidosis
☆☆☆☆1999→ Residue 342
View on ClinVar ↗
Related Genes
AHCYL1Protein interaction97%SLC26A6Protein interaction90%CA4Protein interaction82%SLC9A3Protein interaction79%CA2Protein interaction75%SLC9A1Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Liver
72%
Heart
63%
Bone Marrow
22%
Lung
11%
Ovary
3%
Gene Interaction Network
Click a node to explore
SLC4A4AHCYL1SLC26A6CA4SLC9A3CA2SLC9A1
PROTEIN STRUCTURE
Preparing viewer…
PDB6CAA · 3.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.16–0.33]
RankingsWhere SLC4A4 stands among ~20K protein-coding genes
  • #4,095of 20,598
    Most Researched116 · top quartile
  • #2,333of 5,498
    Most Pathogenic Variants17
  • #1,371of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedSLC4A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SLC4A4 is a novel driver of enzalutamide resistance in prostate cancer.
PMID: 38880227
Cancer Lett · 2024
1.00
2
Astrocytic Slc4a4 regulates blood-brain barrier integrity in healthy and stroke brains via a CCL2-CCR2 pathway and NO dysregulation.
PMID: 38709635
Cell Rep · 2024
0.90
3
Cation-coupled bicarbonate transporters.
PMID: 25428855
Compr Physiol · 2014
0.80
4
SLC4A transporters.
PMID: 23177984
Curr Top Membr · 2012
0.70
5
Succinylation-related molecular activities in cancer: metabolic adaptations, immune landscape, and prognostic significance in colorectal cancer.
PMID: 40463370
Front Immunol · 2025
0.60