TXN2

Chr 22q12.3

thioredoxin 2

Aliases:: MT-TRX
MANE:: ENST00000216185.7

OMIM: 609063 ↗NCBI: 25828 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TXN2 · Q99757

v62025-08-01

Predicted Aligned Error matrix for TXN2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.0/ 100

Confident

166 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)1%
Low(50–70)33%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation defect type 15
0.46
lung carcinoma
0.08
lung cancer
0.08
acute respiratory distress syndrome
0.07
frozen shoulder
0.05
hydrops fetalis
0.04
metabolic dysfunction-associated steatotic liver disease
0.04
endometriosis
0.03
non-small cell lung carcinoma
0.03
acquired polycythemia vera
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Thioredoxin, mitochondrial

Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability (PubMed:12032145, PubMed:12080052, PubMed:26626369) Is involved in various redox reactions including the reduction of protein disulfide bonds, through the reversible oxidation of its active center dithiol to a disulfide (By similarity)