TRAPPC12
Trafficking Protein Particle Complex Subunit 12
Gene Information Card
| Symbol | TRAPPC12 |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 51112 ncbi.nlm.nih.gov/gene/51112 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8WVT3 |
| OMIM ID | 614139 |
| HGNC ID | 24284 |
| Aliases | TRS120, TTC15, CGI-87 |
Description
TRAPPC12 encodes a subunit of the trafficking protein particle (TRAPP) complex, which is involved in vesicle tethering and transport between the endoplasmic reticulum and Golgi apparatus. The protein is essential for autophagy and ciliogenesis, and mutations are linked to neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | Loss-of-function mutations impair vesicle trafficking, leading to iron accumulation and neuronal death. | ClinVar, OMIM |
| Spastic paraplegia | Mutations disrupt axonal transport, causing progressive spasticity. | ClinVar, OMIM |
| Cancer (e.g., colorectal, lung) | Altered expression or mutations affect cell proliferation and autophagy. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Colon | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.0 | Moderate expression |
| SH-SY5Y | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | <0.01% | Loss of function, associated with NBIA |
| c.2023G>A (p.Gly675Arg) | Missense | <0.01% | Impaired protein stability, linked to spastic paraplegia |
| c.314_315del (p.Gln105Argfs*12) | Frameshift | <0.01% | Loss of function, neurodegenerative phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or unstable protein, impairing TRAPP complex function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may produce a defective subunit that disrupts complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • vesicle-mediated transport | • Golgi organization |
| • autophagy | • ciliary basal body |
| • protein binding |
Pathways
• TRAPP complex pathway
• Autophagy
• Ciliogenesis
Protein Summary
TRAPPC12 is a 135 kDa protein that localizes to the Golgi apparatus and ciliary basal body. It is a core component of the TRAPP complex, facilitating membrane tethering and fusion. The protein interacts with other TRAPP subunits and is critical for autophagosome formation and primary cilium assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC12 Knockout HEK293 Cell Line | EDJ-KQ10924 | Human | 51112 | Details Get a Quote |
| TRAPPC12 Knockout A-549 Cell Line | EDJ-KQ38686 | Human | 51112 | Details Get a Quote |
| TRAPPC12 Knockout HCT 116 Cell Line | EDJ-KQ38687 | Human | 51112 | Details Get a Quote |
| TRAPPC12 Knockout HeLa Cell Line | EDJ-KQ38688 | Human | 51112 | Details Get a Quote |
