EP300 Chromosome 22
EP300 lysine acetyltransferase
Upload your DNA to see your personal genotypes for variants in EP300.
What This Gene Does
This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing"
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000100393
Associated Conditions (27)
Inborn genetic diseases
EP300-related disorder
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Menke-Hennekam syndrome 2
Intellectual disability
See cases
Multicystic kidney dysplasia
Developmental and epileptic encephalopathy
18
Hepatoblastoma
Microcephaly
intellectual deficiency
Neurodevelopmental delay
Rare genetic intellectual disability
Multiple congenital anomalies
Carcinoma of colon
Uterine corpus endometrial carcinoma
+7 more conditions
Key Variants
RS1012101301
Conflicting classifications of pathogenicity
Inborn genetic diseases, EP300-related disorder, Inborn genetic diseases
Health Risk
RS115849119
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1169505007
Conflicting classifications of pathogenicity
Health Risk
RS1176732027
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1185038602
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
Health Risk
RS1210404526
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1243111732
Conflicting classifications of pathogenicity
EP300-related disorder, Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1261612920
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to CREBBP mutations, Colorectal cancer, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1278019392
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1290732977
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1301322622
Conflicting classifications of pathogenicity
Inborn genetic diseases, EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
RS1308182502
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Health Risk
All Variants (305)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145766541 | Health Risk | Likely pathogenic | Rare genetic intellectual disability, Rare genetic intellectual disability |
| RS2145769898 | Health Risk | Likely pathogenic | — |
| RS2145770256 | Health Risk | Likely pathogenic | — |
| RS2517797695 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS2517801658 | Health Risk | Likely pathogenic | Menke-Hennekam syndrome 2, Menke-Hennekam syndrome 2 |
| RS2517815239 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS2517820514 | Health Risk | Likely pathogenic | — |
| RS2517821051 | Health Risk | Likely pathogenic | EP300-related disorder, EP300-related disorder |
| RS2517823890 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS2517826886 | Health Risk | Likely pathogenic | EP300-related disorder, EP300-related disorder |
| RS2517832142 | Health Risk | Likely pathogenic | EP300-related disorder, EP300-related disorder |
| RS2517833597 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS2517834847 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS2517835014 | Health Risk | Likely pathogenic | — |
| RS2518115992 | Health Risk | Likely pathogenic | Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Menke-Hennekam syndrome 2 |
| RS2518141380 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS565779970 | Health Risk | Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS786205557 | Health Risk | Likely pathogenic | — |
| RS886042977 | Health Risk | Likely pathogenic | — |
| RS1057517732 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Multiple congenital anomalies, Inborn genetic diseases |
| RS1057519375 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1064794624 | Health Risk | Pathogenic | — |
| RS1064797038 | Health Risk | Pathogenic | — |
| RS1114167305 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1114167306 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS137853038 | Health Risk | Pathogenic | Carcinoma of colon, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Carcinoma of colon |
| RS137853039 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS139310551 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1440862488 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555902247 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555905780 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555907278 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555907749 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555909666 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555909697 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555910122 | Health Risk | Pathogenic | — |
| RS1555910482 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555910814 | Health Risk | Pathogenic | — |
| RS1555911075 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555911098 | Health Risk | Pathogenic | Inborn genetic diseases, Uterine corpus endometrial carcinoma, Inborn genetic diseases |
| RS1555911201 | Health Risk | Pathogenic | — |
| RS1555911313 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555911316 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555911574 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Lung cancer, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555911580 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555912040 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1555912112 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569090642 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1569107391 | Health Risk | Pathogenic | — |
| RS1569108381 | Health Risk | Pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |