Features include always present findings: Upslanted palpebral fissure, Short palpebral fissure, Flat face, and Thin upper lip vermilion and others; and common findings: Epicanthus, Square face, Strabismus, and Absent earlobe and others.

EP300 encodes EP300 lysine acetyltransferase (2,414 aa). Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Highest expression in Testis (49.5 TPM) and Brain Cerebellum (47.8 TPM).

Menke-Hennekam syndrome 2 is associated with mutations in the EP300 gene on chromosome 22.

The EP300 protein participates in p-AcK-NFE2L2:CREBBP, EP300, p-T,4S-IRF3:p-T,4S-IRF3:CREBBP, EP300, and GSTA1 gene:p-AcK-NFE2L2:MAFK:CREBBP, EP300 pathways.

EP300 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, and Transcription Factor Complex categories) with score 8.7.

Genetic testing for EP300 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features, 18 common features.

No clinical trials have been registered for Menke-Hennekam syndrome 2.

4 publications have been identified in PubMed for Menke-Hennekam syndrome 2. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Pavinato L (2025). [PMID: 39603792](https://pubmed.ncbi.nlm.nih.gov/39603792/). *Clin Genet*. [Basic Science / Preclinical]

• Barua S (2025). [PMID: 40421630](https://pubmed.ncbi.nlm.nih.gov/40421630/). *Mol Genet Genomic Med*. [Case Report / Case Series]

• Kawai T (2025). [PMID: 41309537](https://pubmed.ncbi.nlm.nih.gov/41309537/). *Hum Genome Var*. [Epidemiology / Natural History]

• Wang Y (2025). [PMID: 40672389](https://pubmed.ncbi.nlm.nih.gov/40672389/). *Front Genet*. [Review / Meta-Analysis]