TMED3 Gene - Transmembrane p24 Trafficking Protein 3
Key regulator of protein transport in the early secretory pathway
Gene Information Card
| Symbol | TMED3 |
|---|---|
| Full Name | transmembrane p24 trafficking protein 3 |
| Gene Type | protein coding |
| Chromosomal Location | 15q24.3 |
| NCBI Gene ID | 23414 ncbi.nlm.nih.gov/gene/23414 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y3Q3 |
| OMIM ID | 610296 |
| HGNC ID | 28887 |
| Aliases | p24b1, GMP25, TMP21-I, p24delta3 |
Description
TMED3 (transmembrane p24 trafficking protein 3) encodes a member of the p24 family of transmembrane proteins localized to the endoplasmic reticulum (ER) and Golgi apparatus. It functions in the selective transport of cargo proteins within COPII-coated vesicles, playing a role in protein quality control and secretion. TMED3 is involved in the regulation of Wnt signaling and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered TMED3 expression may affect Wnt/β-catenin signaling, promoting tumorigenesis | PMID: 25605248 |
| Breast cancer | TMED3 overexpression correlates with poor prognosis and metastasis | PMID: 29719276 |
| Hepatocellular carcinoma | TMED3 upregulation linked to cell proliferation and migration | PMID: 31065074 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney cells |
| HepG2 | 14.1 | Hepatocellular carcinoma |
| A549 | 11.8 | Lung adenocarcinoma |
| MCF7 | 9.4 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | 0.01% | Unknown functional impact |
| c.421C>T (p.Arg141Trp) | Missense | 0.005% | Predicted damaging by SIFT |
| c.544_545insA | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely cause loss of TMED3 function, impairing protein trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • vesicle-mediated transport (GO:0016192) |
| • Golgi membrane (GO:0000139) | • endoplasmic reticulum (GO:0005783) |
| • COPII-coated vesicle (GO:0030134) |
Pathways
• COPII-mediated vesicle transport
• Wnt signaling pathway
• Protein processing in endoplasmic reticulum
Protein Summary
TMED3 is a 219-amino acid transmembrane protein with a single transmembrane domain. It localizes to the ER-Golgi intermediate compartment and is a component of the p24 complex, which facilitates cargo selection and vesicle budding. The protein contains a GOLD domain involved in protein-protein interactions. TMED3 is ubiquitously expressed with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMED3 Knockout HEK293 Cell Line | EDJ-KQ7335 | Human | 23423 | Details Get a Quote |
| TMED3 Knockout A-549 Cell Line | EDJ-KQ33761 | Human | 23423 | Details Get a Quote |
| TMED3 Knockout HCT 116 Cell Line | EDJ-KQ33763 | Human | 23423 | Details Get a Quote |
| TMED3 Knockout HeLa Cell Line | EDJ-KQ33764 | Human | 23423 | Details Get a Quote |
