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GeneE
10 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.
SLC26A8
solute carrier family 26 member 8
Chromosome 6 Β· 6p21.31
NCBI Gene: 116369Ensembl: ENSG00000112053.15HGNC: HGNC:14468UniProt: Q96RN1
25PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chloride channel activityprotein bindingsulfate transmembrane transporter activityoxalate transmembrane transporter activityspermatogenic failure 3non-syndromic male infertility due to sperm motility disorderrheumatoid arthritisnarcolepsy
✦AI Summary

SLC26A8 is a testis-specific anion transporter that mediates sulfate and oxalate exchange against chloride ions across cell membranes 12. It functions as a regulatory partner of the cystic fibrosis transmembrane conductance regulator (CFTR), stimulating CFTR anion transport activity and cooperating in chloride and bicarbonate ion flux regulation 345. SLC26A8 localizes to the sperm annulus and plays a critical role in sperm flagellar structure and motility 67. Loss-of-function mutations in SLC26A8 cause male infertility characterized by severe asthenozoospermia with structural defects including absence of the mitochondrial sheath and annulus 8. However, heterozygous mutations alone appear insufficient to cause infertility in males 9, suggesting recessive inheritance patterns 8. Notably, SLC26A8 variants were identified in rosacea families and associated with neurogenic inflammation through altered vasoactive neuropeptide production 10, indicating pleiotropic functions beyond reproduction. Clinically, SLC26A8 mutations are recognized causes of spermatogenic failure, though the specific prevalence among infertile men remains unclear 11.

Sources cited
1
SLC26A8 mediates exchange of sulfate and oxalate against chloride ions
PMID: 11278976
2
SLC26A8 functions as sulfate-oxalate-chloride antiporter
PMID: 11834742
3
SLC26A8 stimulates CFTR anion transport activity
PMID: 22121115
4
SLC26A8 stimulates CFTR anion transport activity
PMID: 23582645
5
SLC26A8 interacts functionally with CFTR and regulates anion transport in sperm
PMID: 24530837
6
SLC26A8 is a sperm-specific transmembrane transporter crucial for sperm motility
PMID: 37141450
7
SLC26A8 localizes to sperm and is involved in pH regulation during sperm function
PMID: 38927088
8
Biallelic SLC26A8 mutations cause severe asthenozoospermia with mitochondrial sheath and annulus defects
PMID: 34923715
9
Heterozygous SLC26A8 mutations alone do not cause male infertility; recessive inheritance pattern is more likely
PMID: 35181959
10
SLC26A8 mutations associated with neurogenic inflammation in rosacea through altered neuropeptide production
PMID: 37402769
11
SLC26A8 is testis-specific and mutations are not a common cause of male infertility
PMID: 15579655
Disease Associationsβ“˜21
spermatogenic failure 3Open Targets
0.67Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
rheumatoid arthritisOpen Targets
0.32Weak
narcolepsyOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
oral mucosa leukoplakiaOpen Targets
0.11Weak
gastric ulcerOpen Targets
0.11Weak
Peptic ulcerOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Weak
neoplasmOpen Targets
0.08Suggestive
iridocyclitisOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
Spermatogenic failure 3UniProt
Pathogenic Variants3
NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro)Pathogenic
Spermatogenic failure 3
β˜†β˜†β˜†β˜†2022β†’ Residue 97
NM_052961.4(SLC26A8):c.1664del (p.Ile555fs)Pathogenic
Spermatogenic failure 3
β˜†β˜†β˜†β˜†2022β†’ Residue 555
NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln)Pathogenic
Spermatogenic failure 3
β˜†β˜†β˜†β˜†2013β†’ Residue 87
View on ClinVar β†—
Related Genes
SLC26A1Shared pathway80%RACGAP1Protein interaction77%ANLNProtein interaction77%SLC26A9Shared pathway67%SLC26A11Shared pathway60%SLC26A2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
7%
Liver
6%
Brain
3%
Ovary
2%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC26A8SLC26A1RACGAP1ANLNSLC26A9SLC26A11SLC26A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96RN1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.52–0.79]
RankingsWhere SLC26A8 stands among ~20K protein-coding genes
  • #13,068of 20,598
    Most Researched25
  • #4,139of 5,498
    Most Pathogenic Variants3
  • #6,492of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedSLC26A8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
An integrated machine learning framework for developing and validating a diagnostic model of major depressive disorder based on interstitial cystitis-related genes.
PMID: 38754597
J Affect Disord Β· 2024
1.00
2
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
PMID: 37402769
Nat Commun Β· 2023
0.90
3
Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance.
PMID: 24530837
Int J Biochem Cell Biol Β· 2014
0.80
4
Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.
PMID: 15579655
Mol Hum Reprod Β· 2005
0.70
5
Advances in non-hormonal male contraception targeting sperm motility.
PMID: 37141450
Hum Reprod Update Β· 2023
0.60