TRAPPC2L
Trafficking Protein Particle Complex Subunit 2L
Gene Information Card
| Symbol | TRAPPC2L |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 2L |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 51693 ncbi.nlm.nih.gov/gene/51693 |
| Ensembl ID | ENSG00000102901 |
| UniProt ID | Q9Y6Y8 |
| OMIM ID | 610970 |
| HGNC ID | 24261 |
| Aliases | TRAPPC2-like, C16orf33, HSPC176 |
Description
TRAPPC2L encodes a subunit of the trafficking protein particle (TRAPP) complex, which is involved in vesicular transport from the endoplasmic reticulum to the Golgi apparatus. The protein is structurally similar to TRAPPC2 and is essential for proper tethering and fusion of transport vesicles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepiphyseal dysplasia tarda (SEDT) | Defective TRAPP complex assembly leads to impaired ER-to-Golgi transport, affecting cartilage development | OMIM #313400; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Adrenal gland | 7.1 | Medium |
| Brain | 6.0 | Low |
| Liver | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Moderate expression |
| HEK293 | 12.8 | Moderate expression |
| K562 | 9.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.206A>G (p.Asn69Ser) | Missense | <0.01% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants may impair protein stability or complex assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport | • TRAPP complex |
| • vesicle tethering | • Golgi organization |
Pathways
• ER-to-Golgi vesicle transport
• TRAPP complex pathway
Protein Summary
TRAPPC2L is a 140-amino-acid protein that localizes to the Golgi apparatus and functions as a subunit of the TRAPP complex. It is required for efficient ER-to-Golgi transport and may play a role in skeletal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC2L Knockout HEK293 Cell Line | EDJ-KQ11191 | Human | 51693 | Details Get a Quote |
| TRAPPC2L Knockout HeLa Cell Line | EDJ-KQ37917 | Human | 51693 | Details Get a Quote |
| TRAPPC2L Knockout A-549 Cell Line | EDJ-KQ39245 | Human | 51693 | Details Get a Quote |
| TRAPPC2L Knockout HCT 116 Cell Line | EDJ-KQ39246 | Human | 51693 | Details Get a Quote |
