MED24

Chr 17

mediator complex subunit 24

Also known as: ARC100, CRSP100, CRSP4, DRIP100, MED5, THRAP4, TRAP100

NCBI Gene: 9862UniProt: O75448

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

6
Active trials
133
ClinVar variants
10
Pathogenic / LP
2.6
Missense Z
0.70
LOEUF
5
Pubs (2 yr)
Clinical Summary— MED24
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 114 VUS of 133 total submissions
💊
Clinical Trials
6 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.70LOEUF
pLI 0.000
Z-score 3.31
OE 0.50 (0.37–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.63Z-score
OE missense 0.70 (0.64–0.76)
414 obs / 594.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.50 (0.37–0.70)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.64–0.76)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 26 / 51.7Missense obs/exp: 414 / 594.1Syn Z: 0.72

ClinVar Variant Classifications

133 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic2
VUS114
Likely Benign4
Benign5
8
Pathogenic
2
Likely Pathogenic
114
VUS
4
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
2
0
0
2
VUS
0
112
2
0
114
Likely Benign
0
3
0
1
4
Benign
0
1
2
2
5
Total0118123133

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MED24 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identification of Therapeutic Targets and Prognostic Biomarkers among Genes from the Mediator Complex Family in the Hepatocellular Carcinoma Tumour-Immune Microenvironment
Tan W et al.·Comput Math Methods Med
2022
Dynamics and regulatory role of 5-methylcytosine modification in mRNA colocalized with RNA G-quadruplex structure in mouse development.
S M et al.·Mamm Genome
2025Functional
Survival prediction and analysis of drug-resistance genes in HER2-positive breast cancer.
Yang L et al.·Heliyon
2024
Cdo1 promotes PPARgamma-mediated adipose tissue lipolysis in male mice.
Guo YY et al.·Nat Metab
2022
Case Report and Literature Review: Primary Pulmonary NUT-Midline Carcinoma
Zhang Y et al.·Front Oncol
2021Review
The SAGA complex regulates early steps in transcription via its deubiquitylase module subunit USP22
Stanek TJ et al.·EMBO J
2021
Fine-mapping genomic loci refines bipolar disorder risk genes
Koromina M et al.·medRxiv
2024
Homeostatic status of thyroid hormones and brain water movement as determinant factors in biology of cerebral gliomas: a pilot study using a bioinformatics approach
Mendes CB et al.·Front Neurosci
2024
Top 8 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Chronic Obstructive Pulmonary Disease

Genetic Polymorphism in Matrix Metalloproteinase 9 in Chronic Obstructive Pulmonary Disease in Sohag University Hospital.

NOT YET RECRUITING
NCT06503315Sohag UniversityStarted 2024-10-30
Renalase(rs10887800) Genotyping & Leucocytes Telomere Length in Patients With Postpartum Hypertension

Renalase(rs10887800) Genotyping & Leucocytes Telomere Length in Postpartum. Hypertension

RECRUITING
NCT06500351Sohag UniversityStarted 2024-06-25
Inherited Non-Duchenne Myopathies

Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital

RECRUITING
NCT06574919Sohag UniversityStarted 2024-08-01
Infections, NosocomialInfections, Respiratory Tract

Antibacterial Effect of Zinc Oxide Nanoparticles on Acinetobacter Baumannii Isolated from Patients with Hospital Acquired Infections in Sohag University Hospitals, Egypt

NOT YET RECRUITING
NCT06628076Sohag UniversityStarted 2024-10-10
Culture specific antibiotic therapyAntibioticBiofilm assessment
Vitiligo

Assessment of Hypoxia Inducible Factor and Autophagy Related Genes in Patients With Non-Segmental Vitiligo

RECRUITING
NCT06410898Phase NASohag UniversityStarted 2024-04-25
Punch Biopsy 5mm
Pseudomonas Aeruginosa Infection

Phenotypic and Genotypic Characteristics of Pseudomonas Aeruginosa Isolates in Sohag University Hospitals

RECRUITING
NCT06417593Sohag UniversityStarted 2024-04-01

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients