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TXNRD2

Chr 22q11.21

thioredoxin reductase 2

Aliases:
TR, TRXR2, TR3, SELZ, TXNR2
MANE:
ENST00000400521.7
OMIM: 606448 ↗NCBI: 10587 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Congenital adrenal hypoplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Dilated Cardiomyopathy and conduction defects

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • response to tramadol

    0.50

  • familial glucocorticoid deficiency

    0.49

  • familial isolated dilated cardiomyopathy

    0.38

  • open-angle glaucoma

    0.29

  • glaucoma

    0.23

  • dilated cardiomyopathy

    0.21

  • Abnormality of the cardiovascular system

    0.19

  • heart disorder

    0.18

  • familial hypertrophic cardiomyopathy

    0.18

  • preeclampsia

    0.14

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

Protein function (UniProt)

Thioredoxin reductase 2, mitochondrial

Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.