SLC26A8

Chr 6

solute carrier family 26 member 8

Also known as: AZON, SPGF3, TAT1

NCBI Gene: 116369ENSG00000112053UniProt: Q96RN1

This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 3
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.41
OE 0.60 (0.43–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.44Z-score
OE missense 0.82 (0.76–0.89)
435 obs / 527.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.43–0.83)
0≤0.351.4
Missense OE?0.82 (0.76–0.89)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 25 / 41.8Missense obs/exp: 435 / 527.9Syn Z: 1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC26A8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients