TMX2

Chr 11q12.1

thioredoxin related transmembrane protein 2

Aliases:: PDIA12
MANE:: ENST00000278422.9

OMIM: 616715 ↗NCBI: 51075 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TMX2 · Q9Y320

v62025-08-01

Predicted Aligned Error matrix for TMX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

296 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)20%
Low(50–70)5%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
0.79
neurodegenerative disease
0.29
Abnormality of the nervous system
0.27
hereditary disease
0.19
major depressive disorder
0.13
schizophrenia
0.10
alcohol drinking
0.10
attention deficit-hyperactivity disorder
0.08
substance-related disorder
0.08
bipolar disorder
0.07

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

Protein function (UniProt)

Thioredoxin-related transmembrane protein 2

Endoplasmic reticulum and mitochondria-associated protein that probably functions as a regulator of cellular redox state and thereby regulates protein post-translational modification, protein folding and mitochondrial activity. Indirectly regulates neuronal proliferation, migration, and organization in the developing brain