TRAPPC3
Chr 1trafficking protein particle complex subunit 3
Also known as: BET3
The protein is a component of the trafficking protein particle complex that tethers transport vesicles to the cis-Golgi membrane and regulates transport from the endoplasmic reticulum to the Golgi apparatus. Mutations cause spondyloepiphyseal dysplasia tarda, an X-linked skeletal dysplasia characterized by short stature and spinal abnormalities that typically manifest in late childhood or adolescence. The gene shows X-linked inheritance.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRAPPC3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools