MED9
Chr 17mediator complex subunit 9
Also known as: MED25
The protein encoded by this gene is a component of the Mediator complex, which functions as a coactivator that bridges gene-specific regulatory proteins to the RNA polymerase II transcription machinery for regulated gene expression. Mutations cause neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, which follows an autosomal recessive inheritance pattern. The disorder typically presents in infancy with developmental delays, seizures, and progressive brain volume loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
144 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 115 | 0 | 115 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 20 | 5 | 0 | 25 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 22 | 120 | 0 | 142 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MED9 · 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