TXNDC2

Chr 18

thioredoxin domain containing 2

Also known as: SPTRX, SPTRX1

NCBI Gene: 84203ENSG00000168454UniProt: Q86VQ3

Enables thioredoxin-disulfide reductase (NADPH) activity. Predicted to be involved in cell redox homeostasis and spermatogenesis. Predicted to act upstream of or within cellular response to reactive oxygen species and flagellated sperm motility. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
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
Moderate LoF intolerance
LoF Constraint?
0.92LOEUF
pLI 0.634
Z-score 1.66
OE 0.00 (0.00–0.92)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.92–1.11)
282 obs / 279.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.92)
0≤0.351.4
Missense OE?1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 0 / 3.2Missense obs/exp: 282 / 279.1Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TXNDC2 · 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