HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC4A1
solute carrier family 4 member 1 (Diego blood group)
Chromosome 17 Β· 17q21.31
NCBI Gene: 6521Ensembl: ENSG00000004939.16HGNC: HGNC:11027UniProt: P02730
321PubMed Papers
25Diseases
0Drugs
234Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
solute:inorganic anion antiporter activityprotein bindingbicarbonate transmembrane transporter activityankyrin bindinghereditary spherocytosis type 4autosomal dominant distal renal tubular acidosisrenal tubular acidosis, distal, 4, with hemolytic anemiasoutheast Asian ovalocytosis
✦AI Summary

SLC4A1 encodes an anion exchanger protein (band 3) with dual roles in red blood cell physiology and pathogen interaction. Primary function: SLC4A1 mediates chloride-bicarbonate antiport and regulates intracellular pH through bicarbonate transport across the plasma membrane 1. The protein maintains erythrocyte volume homeostasis by controlling cellular water and solute content, critical for red cell survival 2. Mechanism: SLC4A1 functions as a Cl/HCO3- exchanger localized to the basolateral plasma membrane and binds to the ankyrin-1 complex for cytoskeletal anchoring 1. Additionally, SLC4A1 serves as a receptor for Plasmodium falciparum merozoite surface proteins (MSP1 and MSP9), facilitating parasite invasion of erythrocytes 34. Disease relevance: SLC4A1 mutations cause hereditary spherocytosis, distal renal tubular acidosis, and cryohydrocytosis. Children with SLC4A1-associated hereditary spherocytosis display the mildest phenotype with minimal hemolysis and no requirement for splenectomy 5. Inherited dRTA variants in SLC4A1 impair acid secretion in collecting ducts, causing hyperchloremic acidosis 6. Clinical significance: SLC4A1 variants represent important genetic markers for predicting disease severity in hereditary spherocytosis and identifying asymptomatic carriers requiring monitoring.

Sources cited
1
SLC4A1 mediates Cl/HCO3- exchange and regulates intracellular pH through bicarbonate transport
PMID: 23177984
2
SLC4A1 maintains erythrocyte volume homeostasis and water-solute balance
PMID: 29051181
3
SLC4A1 acts as receptor for P. falciparum MSP9 facilitating merozoite invasion
PMID: 14630931
4
SLC4A1 acts as receptor for P. falciparum MSP1 facilitating merozoite invasion
PMID: 12692305
5
SLC4A1 mutations cause hereditary spherocytosis with mildest phenotype and no childhood splenectomy requirement
PMID: 32436265
6
SLC4A1 variants cause inherited distal renal tubular acidosis through impaired collecting duct acid secretion
PMID: 37016093
Disease Associationsβ“˜25
hereditary spherocytosis type 4Open Targets
0.82Strong
autosomal dominant distal renal tubular acidosisOpen Targets
0.82Strong
renal tubular acidosis, distal, 4, with hemolytic anemiaOpen Targets
0.79Strong
southeast Asian ovalocytosisOpen Targets
0.77Strong
cryohydrocytosisOpen Targets
0.76Strong
Hereditary cryohydrocytosis with normal stomatinOpen Targets
0.72Strong
hereditary spherocytosisOpen Targets
0.71Strong
hemolytic anemiaOpen Targets
0.71Strong
Distal renal tubular acidosis with anemiaOpen Targets
0.63Moderate
Congenital hemolytic anemiaOpen Targets
0.59Moderate
hematologic diseaseOpen Targets
0.59Moderate
distal renal tubular acidosisOpen Targets
0.58Moderate
inherited distal renal tubular acidosisOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
hereditary elliptocytosisOpen Targets
0.44Moderate
renal tubular acidosisOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
dehydrated hereditary stomatocytosisOpen Targets
0.39Weak
autosomal recessive distal renal tubular acidosisOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
CryohydrocytosisUniProt
Ovalocytosis, Southeast AsianUniProt
Renal tubular acidosis, distal, 1UniProt
Renal tubular acidosis, distal, 4, with hemolytic anemiaUniProt
Spherocytosis 4UniProt
Pathogenic Variants234
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)Pathogenic
Hereditary spherocytosis type 4|Hereditary spherocytosis type 4;Autosomal dominant distal renal tubular acidosis|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 808
NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 492
NM_000342.4(SLC4A1):c.695-2A>GLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2026
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)Pathogenic
Hereditary spherocytosis type 4|Renal tubular acidosis, distal, 4, with hemolytic anemia|not provided|11 conditions|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 488
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)Pathogenic
Hereditary spherocytosis type 4|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 304
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)Pathogenic
Hereditary spherocytosis type 4|not provided|11 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 760
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)Pathogenic
Southeast Asian ovalocytosis|Malaria, cerebral, resistance to|not provided|11 conditions|Renal tubular acidosis, distal, 4, with hemolytic anemia|Distal renal tubular acidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 400
NM_000342.4(SLC4A1):c.349+1G>CLikely pathogenic
not provided|11 conditions
β˜…β˜…β˜†β˜†2025
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)Pathogenic
Renal tubular acidosis, distal, 4, with hemolytic anemia|not provided|11 conditions|SLC4A1-related disorder|Autosomal dominant distal renal tubular acidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 701
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His)Pathogenic
not provided|Hereditary spherocytosis type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 490
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)Pathogenic
not provided|11 conditions|Hereditary spherocytosis type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 344
NM_000342.4(SLC4A1):c.2057+1G>APathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_000342.4(SLC4A1):c.336_337del (p.Arg112fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 112
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 808
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)Pathogenic
11 conditions|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 414
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)Pathogenic
not provided|Renal tubular acidosis|Southeast Asian ovalocytosis|Autosomal dominant distal renal tubular acidosis|11 conditions|Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 609
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)Pathogenic
not provided|Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 723
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)Pathogenic
not provided|Hereditary spherocytosis type 4|SLC4A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 490
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)Pathogenic
Hereditary spherocytosis type 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 870
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)Pathogenic
Autosomal dominant distal renal tubular acidosis|not provided|11 conditions|Renal tubular acidosis|Renal tubular acidosis, distal, 4, with hemolytic anemia;Autosomal dominant distal renal tubular acidosis|Cryohydrocytosis
β˜…β˜…β˜†β˜†2025β†’ Residue 589
View on ClinVar β†—
Related Genes
ATP6V0A4Protein interaction100%EPB42Protein interaction100%GYPAProtein interaction100%ANK1Protein interaction100%GYPBProtein interaction100%SLC4A1APProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC4A1ATP6V0A4EPB42GYPAANK1GYPBSLC4A1AP
PROTEIN STRUCTURE
Preparing viewer…
PDB4KY9 Β· 2.23 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.22–0.41]
RankingsWhere SLC4A1 stands among ~20K protein-coding genes
  • #1,039of 20,598
    Most Researched321 Β· top 10%
  • #271of 5,498
    Most Pathogenic Variants234 Β· top 5%
  • #2,068of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedSLC4A1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Multi-omics Mendelian randomization integrating GWAS, eQTL and pQTL data revealed GSTM4 as a potential drug target for migraine.
PMID: 39039470
J Headache Pain Β· 2024
1.00
2
The pathophysiology of distal renal tubular acidosis.
PMID: 37016093
Nat Rev Nephrol Β· 2023
0.90
3
Genotype-phenotype correlation in children with hereditary spherocytosis.
PMID: 32436265
Br J Haematol Β· 2020
0.80
4
Genetic variants affecting mitochondrial function provide further insights for kidney disease.
PMID: 38858654
BMC Genomics Β· 2024
0.76
5
Recent Developments in the Treatment of Pediatric Distal Renal Tubular Acidosis.
PMID: 39325135
Paediatr Drugs Β· 2024
0.72