MED25

Chr 19AR

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]

OMIMResearchGenerating clinical summary…
ARLOEUF 0.651 OMIM phenotype
Clinical SummaryMED25
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Gene-Disease Validity (ClinGen)
Charcot-Marie-Tooth disease type 2B2 · ARDisputed

Disputed — evidence questions this relationship

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
8 active or recruiting trials — potential therapeutic options may be available

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

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
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.
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
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
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.
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
Toxoplasmosis in Neuropsychiatric Disorders

Toxoplasma Gondii Seroprevalence Among Children With Some Neuropsychiatric Disorders

NOT YET RECRUITING
NCT06980298Sohag UniversityStarted 2025-06