TMX2: Thioredoxin-Related Transmembrane Protein 2
A key player in redox homeostasis and endoplasmic reticulum stress response
Gene Information Card
| Symbol | TMX2 |
|---|---|
| Full Name | Thioredoxin-Related Transmembrane Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 51075 ncbi.nlm.nih.gov/gene/51075 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9Y320 |
| OMIM ID | 616766 |
| HGNC ID | 30748 |
| Aliases | PDIA13, TXNDC14 |
Description
TMX2 encodes a thioredoxin-related transmembrane protein that localizes to the endoplasmic reticulum (ER). It functions as a protein disulfide isomerase (PDI) family member, catalyzing thiol-disulfide exchange reactions critical for proper protein folding and redox homeostasis. TMX2 is involved in the unfolded protein response (UPR) and protects cells from ER stress-induced apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Loss of TMX2 function disrupts ER redox balance, impairing neuronal development | PMID: 31585110 |
| Epileptic encephalopathy, early infantile | TMX2 mutations lead to ER stress and synaptic dysfunction | ClinVar: RCV000626059 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Heart | 6.8 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| SH-SY5Y | 14.3 | Neuronal model |
| HepG2 | 7.5 | Hepatocyte line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Loss of disulfide isomerase activity |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein |
| c.650G>A (p.Arg217Gln) | Missense | Rare | Impaired ER localization |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish TMX2 enzymatic activity, leading to ER stress and neuronal dysfunction.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; recessive inheritance pattern observed in disease.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity (GO:0003756) | • endoplasmic reticulum (GO:0005783) |
| • response to endoplasmic reticulum stress (GO:0034976) | • cell redox homeostasis (GO:0045454) |
Pathways
• Endoplasmic reticulum protein processing (KEGG: hsa04141)
• Unfolded protein response (Reactome: R-HSA-381119)
Protein Summary
TMX2 is a 296-amino acid transmembrane protein with a thioredoxin-like domain (CXXC motif) that mediates thiol-disulfide exchange. It resides in the ER membrane and interacts with other PDI family members to ensure proper oxidative protein folding. TMX2 is highly expressed in the brain and testis, and its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMX2 Knockout HEK293 Cell Line | EDJ-KQ10910 | Human | 51075 | Details Get a Quote |
| TMX2 Knockout HeLa Cell Line | EDJ-KQ37347 | Human | 51075 | Details Get a Quote |
| TMX2 Knockout A-549 Cell Line | EDJ-KQ38646 | Human | 51075 | Details Get a Quote |
| TMX2 Knockout HCT 116 Cell Line | EDJ-KQ38647 | Human | 51075 | Details Get a Quote |
