Metazoan complexes |
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Emili & Marcotte labs |
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Details of EP300 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| EP300 | P300 | Q09472 | EP300_HUMAN | 2033 | ENSG00000100393 | Histone acetyltransferase p300 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Note=Defects in EP300 may play a role in epithelial cancer. | --- | Note=Chromosomal aberrations involving EP300 may be a cause of acute myeloid leukemias. Translocation t(822)(p11q13) with KAT6A. | --- | Rubinstein-Taybi syndrome 2 (RSTS2) [MIM:613684]: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613684 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Ep300 | nej | cbp-1 | Sp-Cbp |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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