TRAPPC6B Gene
Trafficking Protein Particle Complex Subunit 6B
Gene Information Card
| Symbol | TRAPPC6B |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 6B |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.2 |
| NCBI Gene ID | 122553 ncbi.nlm.nih.gov/gene/122553 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q86SZ2 |
| OMIM ID | 610970 |
| HGNC ID | HGNC:19967 |
| Aliases | TRAPP complex subunit 6B, TPC6B, TRAPPC6 |
Description
TRAPPC6B encodes a subunit of the TRAPP (transport protein particle) complex, which is involved in vesicle tethering and trafficking between the endoplasmic reticulum and Golgi apparatus. Mutations in this gene are associated with autosomal recessive neurodevelopmental disorder with microcephaly and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) | Loss-of-function mutations impair TRAPP complex assembly, disrupting vesicle transport and neuronal development | OMIM #617862; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| SH-SY5Y | 18.7 | Neuronal cell line, high expression |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | start loss | rare | Loss of protein initiation, likely null allele |
| c.97C>T (p.Arg33*) | nonsense | rare | Premature stop, loss of function |
| c.262_263del (p.Leu88Glufs*5) | frameshift | rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Pathogenic variants cause loss of TRAPPC6B function, leading to impaired TRAPP complex assembly and vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • vesicle-mediated transport (GO:0016192) |
| • trans-Golgi network (GO:0005802) | • TRAPP complex (GO:0034045) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• TRAPP complex mediated vesicle tethering (Reactome: R-HSA-5694412)
Protein Summary
TRAPPC6B is a 166-amino acid protein (UniProt Q86SZ2) that functions as a subunit of the TRAPP complex. It is localized to the Golgi apparatus and is essential for tethering vesicles during ER-to-Golgi transport. Loss of function leads to neurodevelopmental defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC6B Knockout HEK293 Cell Line | EDJ-KQ7485 | Human | 122553 | Details Get a Quote |
| TRAPPC6B Knockout A-549 Cell Line | EDJ-KQ34063 | Human | 122553 | Details Get a Quote |
| TRAPPC6B Knockout HCT 116 Cell Line | EDJ-KQ34064 | Human | 122553 | Details Get a Quote |
| TRAPPC6B Knockout HeLa Cell Line | EDJ-KQ34065 | Human | 122553 | Details Get a Quote |
