Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

TXNRD3NB

Chr 3

thioredoxin reductase 3 neighbor

Also known as: TR2IT1, TXNRD3IT1, TXNRD3NT1

ResearchGenerating clinical summary…
GOFmechanismLOEUF 1.94
Clinical SummaryTXNRD3NB
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/TXNRD3NB?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -1.28
OE 1.62 (0.871.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.25Z-score
OE missense 0.92 (0.751.13)
65 obs / 71.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.62 (0.871.94)
00.351.4
Missense OE?0.92 (0.751.13)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 8 / 4.9Missense obs/exp: 65 / 71.0Syn Z: 0.11

This gene — mechanism propensity

DN
0.5966th %ile
GOF
0.6540th %ile
LOF
0.4528th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TXNRD3NB · 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

No active trials found for this gene.

Search ClinicalTrials.gov →