TMX4: Thioredoxin-Related Transmembrane Protein 4
A comprehensive resource for TMX4 gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TMX4 |
|---|---|
| Full Name | Thioredoxin Related Transmembrane Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 56255 ncbi.nlm.nih.gov/gene/56255 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H1E5 |
| OMIM ID | 616147 |
| HGNC ID | 24118 |
| Aliases | PDIA14, TXNDC13, UNQ311/PRO394 |
Description
TMX4 (Thioredoxin Related Transmembrane Protein 4) is a protein-coding gene that encodes a member of the thioredoxin family of proteins. The protein is localized to the endoplasmic reticulum (ER) and contains a thioredoxin domain, suggesting a role in redox regulation and protein folding. TMX4 is involved in disulfide bond formation and isomerization, and may play a role in ER stress response and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.8 | Embryonic kidney cells |
| HeLa | 9.4 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | Rare | Unknown functional effect |
| c.456G>A (p.Val152Met) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity (GO:0003756) | • endoplasmic reticulum (GO:0005783) |
| • protein folding (GO:0006457) | • protein transport (GO:0015031) |
| • cell redox homeostasis (GO:0045454) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Unfolded protein response (Reactome: R-HSA-381119)
Protein Summary
TMX4 is a 280-amino acid transmembrane protein with a single N-terminal thioredoxin domain. It localizes to the endoplasmic reticulum membrane and functions as a protein disulfide isomerase, catalyzing the formation and rearrangement of disulfide bonds. The protein is involved in redox homeostasis and may modulate ER stress responses. Expression is broad, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMX4 Knockout HEK293 Cell Line | EDJ-KQ15870 | Human | 56255 | Details Get a Quote |
| TMX4 Knockout A-549 Cell Line | EDJ-KQ49085 | Human | 56255 | Details Get a Quote |
| TMX4 Knockout HCT 116 Cell Line | EDJ-KQ49086 | Human | 56255 | Details Get a Quote |
| TMX4 Knockout HeLa Cell Line | EDJ-KQ49087 | Human | 56255 | Details Get a Quote |
