TMED9: Transmembrane p24 Trafficking Protein 9
A key regulator of protein transport in the early secretory pathway, implicated in congenital disorders of glycosylation and cancer.
Gene Information Card
| Symbol | TMED9 |
|---|---|
| Full Name | Transmembrane p24 trafficking protein 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q22.3 |
| NCBI Gene ID | 54732 ncbi.nlm.nih.gov/gene/54732 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q9BVK6 |
| OMIM ID | 619034 |
| HGNC ID | HGNC:17768 |
| Aliases | p24, p24alpha3, GMP25, TMP21, TMP21-I, p24a3 |
Description
TMED9 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 the selective transport of secretory and membrane proteins from the ER to the Golgi. TMED9 is also involved in ER stress response and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIn (CDG-IIn) | Loss-of-function mutations in TMED9 impair protein trafficking, leading to defective N-glycosylation and multisystem disease. | OMIM #619034; ClinVar |
| Breast cancer | TMED9 overexpression correlates with poor prognosis; may promote tumor growth via altered secretory pathway signaling. | COSMIC; literature |
| Pancreatic cancer | TMED9 is upregulated and associated with gemcitabine resistance; potential therapeutic target. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Pancreas | 10.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| MCF7 | 11.6 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | Rare | Loss of function; associated with CDG-IIn |
| c.415C>T (p.Arg139Trp) | Missense | Rare | Loss of function; associated with CDG-IIn |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with CDG-IIn |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations in TMED9 impair protein trafficking and cause congenital disorder of glycosylation type IIn.
Gain of Function (GOF)
Not documented in curated databases.
Dominant Negative (DN)
Not documented in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: Protein processing in endoplasmic reticulum (hsa04141)
• Reactome: COPII-mediated vesicle transport (R-HSA-204005)
Protein Summary
TMED9 is a 219-amino-acid transmembrane protein with a single transmembrane domain, a coiled-coil region, and a GOLD domain. It forms heteromeric complexes with other p24 family members and interacts with COPII coat components to mediate cargo selection and vesicle budding from the ER. The protein is ubiquitously expressed and plays a role in maintaining Golgi morphology and ER homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMED9 Knockout HEK293 Cell Line | EDJ-KQ3071 | Human | 54732 | Details Get a Quote |
| TMED9 Knockout A-549 Cell Line | EDJ-KQ24348 | Human | 54732 | Details Get a Quote |
| TMED9 Knockout HCT 116 Cell Line | EDJ-KQ24349 | Human | 54732 | Details Get a Quote |
| TMED9 Knockout HeLa Cell Line | EDJ-KQ24350 | Human | 54732 | Details Get a Quote |
