MED25

Chr 19

mediator complex subunit 25

Also known as: ACID1, ARC92, BVSYS, CMT2B2, P78, PTOV2, TCBAP0758

This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
Charcot-Marie-Tooth disease type 2B2 · ARDisputedevidence questions this relationship
8
Active trials
28
Pubs (1 yr)
P/LP submissions
P/LP missense
0.65
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 3.28
OE 0.43 (0.300.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.25Z-score
OE missense 0.83 (0.770.91)
380 obs / 455.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.300.65)
00.351.4
Missense OE?0.83 (0.770.91)
00.61.4
Synonymous OE?1.22
01.21.6
LoF obs/exp: 17 / 39.1Missense obs/exp: 380 / 455.2Syn Z: -2.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MED25 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Toxoplasmosis in Neuropsychiatric Disorders

Toxoplasma Gondii Seroprevalence Among Children With Some Neuropsychiatric Disorders

NOT YET RECRUITING
NCT06980298Sohag UniversityStarted 2025-06
ISOLATION OF KLEB. by Culture on macConkey AgarAntibiotic Sensitivity Testing of Different Antibiotics According to Clsi 25Effect of Ceftazidime-Avibactam on Carbapenemase-Producing Klebsiella Pneumoniae

Effect of Ceftazidime-Avibactam on Carbapenemase-Producing Klebsiella Pneumoniae

NOT YET RECRUITING
NCT07369518Sohag UniversityStarted 2026-01
. - Genotypic detection of carbapenemase genes by conventional PCR.
Multidrug Resistant Klebsiella Pneumoniae Infection

Phenotypic and Genotypic Detection of Biofilm Formation and Efflux Pump Activity in Multi-drug Resistant Klebsiella Pneumoniae

NOT YET RECRUITING
NCT07541690Sohag UniversityStarted 2026-04
Genotypic Detection of Biofilm Formation and Efflux Pump Activity.
Immune ThrombocytopeniaSystem; Lupus Erythematosus

The Value of Interleukin-1β and Interleukin-33 Genetic Expression in the Pathogenesis and Differentiation of Primary ITP and SLE-Related Thrombocytopenia

NOT YET RECRUITING
NCT07298733Sohag UniversityStarted 2026-01-01
measuring gene expression
Primary Open Angle Glaucoma (POAG)

Association Between Matrix Metalloproteinase-9 Gene Polymorphism and Susceptibility to Primary Open Angle Glaucoma Patients in Sohag University Hospital

NOT YET RECRUITING
NCT07119905Sohag UniversityStarted 2026-06-01
genotyping assay by polymerase chain reaction
ITP - Immune Thrombocytopenia

"Cytotoxic T Lymphocyte-Associated Antigen-4 (CTLA-4) Gene Single-nucleotide Polymorphism in Primary Immune Thrombocytopenic Purpura in Children"

NOT YET RECRUITING
NCT07014904Sohag UniversityStarted 2025-08-20
Carbapenem-resistant Hypervirulent Klebsiella Pneumoniae Infection

Impact of Siderophore Genes on Cefiderocol Susceptibility in Carbapenem Resistant Hypervirulent Klebsiella Pneumoniae

NOT YET RECRUITING
NCT07475429Sohag UniversityStarted 2026-03-15
Cefiderocol susceptibility testing
Familial Mediterranean Fever

Health-related Quality of Life, Electrocardiographic and Holter Findings in Children With Familial Mediterranean Fever

ACTIVE NOT RECRUITING
NCT07128225Sohag UniversityStarted 2025-03-01