TMED9
Chr 5transmembrane p24 trafficking protein 9
Also known as: GMP25, HSGP25L2G, p24a2, p24alpha2, p25
The TMED9 protein functions in vesicular protein trafficking within the early secretory pathway, particularly in COPI vesicle-mediated retrograde transport and retention of protein complexes in cis-Golgi membranes. Mutations in TMED9 cause autosomal recessive intellectual disability with hypotonia and dysmorphic features, typically presenting in early childhood. The gene shows low constraint to loss-of-function mutations, which is consistent with the recessive inheritance pattern observed in affected patients.
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
TMED9 · 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