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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SLC4A2
solute carrier family 4 member 2
Chromosome 7 Β· 7q36.1
NCBI Gene: 6522Ensembl: ENSG00000164889.16HGNC: HGNC:11028UniProt: P04920
101PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneosteoclast differentiationprotein bindingplasma membraneosteopetrosis, autosomal recessive 9distal renal tubular acidosisAbnormality of the skeletal systemprimary biliary cirrhosis
✦AI Summary

SLC4A2 (solute carrier family 4 member 2) encodes an anion exchanger that mediates sodium-independent, electroneutral exchange of chloride for bicarbonate ions across the cell membrane 12. The gene spans over 17 kb with 23 exons and contains multiple transcription initiation sites, with tissue-specific expression driven by alternate promoters regulated by transcription factors such as HNF1alpha 34. Primary physiological functions include intracellular pH regulation and control of cell volume through anion exchange 5. SLC4A2 plays a critical role in osteoclast differentiation and function, where it is exclusively expressed at the contra-lacunar membrane and participates in bone resorption through pH-dependent control of calpain-dependent actin cytoskeleton organization 25. Clinically, biallelic loss-of-function mutations in SLC4A2 cause autosomal recessive osteopetrosis (osteopetrosis, Ikegawa type), characterized by increased bone density due to impaired osteoclast-mediated bone resorption and defective podosome belt formation 25. In primary biliary cholangitis, disease-specific promoter hypermethylation and downregulation of SLC4A2 expression contribute to pathogenesis 6. Recent evidence suggests SLC4A2 upregulation promotes colorectal cancer progression through epithelial-mesenchymal transition activation 7.

Sources cited
1
SLC4A2 mediates electroneutral exchange of chloride for bicarbonate ions
PMID: 15184086
2
SLC4A2 plays important role in osteoclast differentiation and function; biallelic pathogenic variants cause autosomal recessive osteopetrosis with impaired bone resorption
PMID: 34668226
3
SLC4A2 gene structure: spans >17 kb with 23 exons and 22 introns; mapped to chromosome 7; contains multiple transcription initiation sites
PMID: 9027488
4
SLC4A2 has upstream and alternate promoters within intron 2; HNF1alpha regulates alternate promoter activity in liver and kidney
PMID: 14575719
5
SLC4A2 regulates Cl-/HCO3- exchange to mediate intracellular pH and cell volume; expressed at contra-lacunar membrane during osteoclastogenesis; loss-of-function causes osteopetrosis in mice, cattle, and humans
PMID: 36343920
6
SLC4A2 promoter hypermethylation reduces gene expression in primary biliary cholangitis livers and PBMCs; hypermethylation correlates with reduced transcript levels
PMID: 32039364
7
SLC4A2 upregulation promotes colorectal cancer cell migration and epithelial-mesenchymal transition progression in response to bisphenol S exposure
PMID: 40669749
Disease Associationsβ“˜21
osteopetrosis, autosomal recessive 9Open Targets
0.43Moderate
distal renal tubular acidosisOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
primary biliary cirrhosisOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
partial androgen insensitivity syndromeOpen Targets
0.05Suggestive
isochromosomy YqOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
Osteopetrosis, autosomal recessive 9UniProt
Pathogenic Variants3
NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)Pathogenic
Osteopetrosis, autosomal recessive 9
β˜†β˜†β˜†β˜†2023β†’ Residue 186
NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)Pathogenic
Osteopetrosis, autosomal recessive 9
β˜†β˜†β˜†β˜†2023β†’ Residue 553
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr)Likely pathogenic
Distal renal tubular acidosis
β˜†β˜†β˜†β˜†2019β†’ Residue 703
View on ClinVar β†—
Related Genes
SLC26A7Protein interaction96%SLC12A2Protein interaction91%SLC12A1Protein interaction84%SLC4A9Shared pathway38%SLC4A3Shared pathway33%SLC4A1Shared pathway31%
Tissue Expression6 tissues
Liver
100%
Lung
85%
Ovary
71%
Heart
44%
Brain
38%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
SLC4A2SLC26A7SLC12A2SLC12A1SLC4A9SLC4A3SLC4A1
PROTEIN STRUCTURE
Preparing viewer…
PDB8GVC Β· 2.89 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.32 [0.24–0.42]
RankingsWhere SLC4A2 stands among ~20K protein-coding genes
  • #4,749of 20,598
    Most Researched101 Β· top quartile
  • #3,988of 5,498
    Most Pathogenic Variants3
  • #2,213of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedSLC4A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.
PMID: 36343920
Bone Β· 2023
1.00
2
Molecular cloning and characterization of the human AE2 anion exchanger (SLC4A2) gene.
PMID: 9027488
Genomics Β· 1997
0.90
3
Boric acid increases the expression levels of human anion exchanger genes SLC4A2 and SLC4A3.
PMID: 22576912
Genet Mol Res Β· 2012
0.80
4
HNF1alpha upregulates the human AE2 anion exchanger gene (SLC4A2) from an alternate promoter.
PMID: 14575719
Biochem Biophys Res Commun Β· 2003
0.70
5
The mouse retinal pigment epithelium mounts an innate immune defense response following retinal detachment.
PMID: 38528525
J Neuroinflammation Β· 2024
0.60