TMED10: Transmembrane p24 Trafficking Protein 10
Key regulator of vesicular protein transport and cargo sorting in the early secretory pathway
Gene Information Card
| Symbol | TMED10 |
|---|---|
| Full Name | Transmembrane p24 trafficking protein 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 10972 ncbi.nlm.nih.gov/gene/10972 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P49755 |
| OMIM ID | 605406 |
| HGNC ID | 11871 |
| Aliases | Tmp21, p24delta1, S31III, p24d1, TMP21 |
Description
TMED10 encodes a member of the p24 family of transmembrane proteins localized to the endoplasmic reticulum (ER) and Golgi apparatus. It functions as a cargo receptor in COPII-coated vesicles, facilitating selective transport of proteins from the ER to the Golgi. TMED10 also plays roles in quality control, lipid metabolism, and regulation of amyloid precursor protein (APP) processing. The protein forms heteromeric complexes with other p24 family members and is essential for maintaining Golgi structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | TMED10 modulates gamma-secretase activity and APP processing; reduced expression increases amyloid-beta production | PMID: 16936731; ClinVar |
| Breast cancer | TMED10 overexpression correlates with poor prognosis; promotes cell proliferation and migration via ERK signaling | PMID: 29367642; COSMIC |
| Pancreatic cancer | TMED10 upregulation associated with tumor progression and chemoresistance | PMID: 31073015; COSMIC |
| Hepatocellular carcinoma | TMED10 silencing reduces cell viability and induces apoptosis | PMID: 31525678; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Heart | 7.4 | Low |
| Lung | 9.8 | Medium |
| Breast | 11.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression; used in functional studies |
| HeLa | 13.5 | High expression; role in ER-Golgi transport |
| MCF7 | 15.1 | High expression; breast cancer line |
| HepG2 | 9.7 | Medium expression; liver cancer line |
| PANC-1 | 8.4 | Medium expression; pancreatic cancer line |
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; rare variant in population databases |
| c.421C>T (p.Pro141Ser) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; incomplete penetrance |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) are predicted to abolish protein expression; associated with reduced ER-Golgi transport efficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
Missense mutations in the coiled-coil domain may disrupt p24 complex assembly, potentially exerting dominant-negative effects on cargo sorting.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • protein transport (GO:0015031) |
| • Golgi membrane (GO:0000139) | • endoplasmic reticulum (GO:0005783) |
| • COPII-coated vesicle (GO:0030134) | • protein binding (GO:0005515) |
| • protein N-terminus binding (GO:0047485) |
Pathways
• REACT:21369 - COPII-mediated vesicle transport
• REACT:111045 - ER to Golgi transport
• REACT:111102 - Golgi-to-ER retrograde transport
• KEGG:04141 - Protein processing in endoplasmic reticulum
Protein Summary
TMED10 (Tmp21) is a 219-amino-acid type I transmembrane protein with a single transmembrane domain and a luminal GOLD domain. It localizes to the ER-Golgi intermediate compartment and cis-Golgi. As a component of the p24 complex, it acts as a cargo receptor for soluble and membrane proteins during COPII vesicle budding. TMED10 also interacts with presenilin-1 and modulates gamma-secretase activity, linking it to Alzheimer disease pathology. Its expression is ubiquitous but enriched in secretory tissues. Post-translational modifications include N-glycosylation and phosphorylation.
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