MED14
Chr Xmediator complex subunit 14
Also known as: CRSP150, CRSP2, CSRP, CXorf4, DRIP150, EXLM1, RGR1, TRAP170
The protein is a component of the Mediator complex that functions as a coactivator for RNA polymerase II-dependent gene transcription, serving as a bridge between gene-specific regulatory proteins and the basal transcription machinery. Mutations cause X-linked intellectual disability with variable additional features including seizures, behavioral problems, and dysmorphic features. This gene is extremely intolerant to loss-of-function variants and escapes X-inactivation, which may contribute to phenotypic expression in carrier females.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MED14 · 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