EP300

EP300 lysine acetyltransferase

2 disorders 2 causative 22q13.2 gene with protein product

HGNC:3373 Monarch NCBI Gene 2033 ENSG00000100393 UniProt Q09472 OMIM 602700

Aliases: p300, KAT3B.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Menke-Hennekam Syndrome	causative germline	mechanism: Disrupted ZZ/TAZ2 Zinc-Finger Fold and ID4 Interface; Dysregulated CBP/p300 Acetyltransferase Activity; MKHK-Region Missense or In-Frame Variant in CBP/p300 subtype: MKHK2 scoped to subtype: MKHK2
Rubinstein-Taybi Syndrome	causative germline loss of function	mechanism: CBP/p300 Haploinsufficiency and Loss of Histone Acetyltransferase Activity subtype: RSTS2 scoped to subtype: RSTS2

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:0013364	AD	Definitive 2022-05-20	Rubinstein-Taybi Syndrome causative

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Rubinstein-Taybi Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.