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Gene

EP300

EP300 lysine acetyltransferase

Summary

Cytogenetic location
22q13.2
Coordinates
Chromosome 22: 41,092,592–41,180,077 (GRCh38)
Exons
31 exons across 87.5 kb
Protein
2,414 amino acids
Also known as
p300, KAT3B
MANE Select transcript
ENST00000263253.9NM_001429.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link definitive
        • 6 GenCC submitters rate it definitive or strong

    How EP300 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where EP300 sits. EP300 and 20 genes near it on chromosome 22, from 40,636,335 to 41,636,334.Chromosome 2222q13.2p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3340.8 Mb41 Mb41.2 Mb41.4 Mb41.6 MbMRTFA: 40,410,281–40,636,726, reverse strandMRTFAMCHR1: 40,679,273–40,682,812, forward strandMCHR1SLC25A17: 40,769,630–40,819,402, reverse strandSLC25A17ST13: 40,824,445–40,856,919, reverse strandST13XPNPEP3: 40,857,054–40,932,815, forward strandXPNPEP3DNAJB7: 40,859,549–40,862,113, reverse strandDNAJB7RBX1: 40,951,277–40,973,539, forward strandRBX1EP300: 41,092,592–41,180,077, forward strandEP300L3MBTL2: 41,205,282–41,231,623, forward strandL3MBTL2CHADL: 41,229,256–41,241,000, reverse strandCHADLRANGAP1: 41,243,474–41,302,744, reverse strandRANGAP1ZC3H7B: 41,301,457–41,360,155, forward strandZC3H7BTEF: 41,367,333–41,399,326, forward strandTEFTOB2: 41,433,489–41,447,602, reverse strandTOB2ACO2: 41,447,830–41,529,273, forward strandACO2PHF5A: 41,448,895–41,468,713, reverse strandPHF5APOLR3H: 41,525,799–41,544,606, reverse strandPOLR3HCSDC2: 41,560,758–41,577,741, forward strandCSDC2PMM1: 41,576,886–41,595,275, reverse strandPMM1DESI1: 41,598,028–41,621,089, reverse strandDESI1XRCC6: 41,620,786–41,664,087, forward strandXRCC6Diagram of EP300: 31 exons on the forward strand of chromosome 22Exon 1: 1 known disease-causing siteExon 2: 9 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 8: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 4 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 23: 4 known disease-causing sitesExon 24: 4 known disease-causing sitesExon 25: 4 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 27: 5 known disease-causing sitesExon 28: 8 known disease-causing sitesExon 29: 3 known disease-causing sitesExon 30: 11 known disease-causing sitesExon 31: 33 known disease-causing sitesExon 1: 41,092,592–41,093,098, 507 basesExon 2: 41,117,187–41,117,821, 635 basesExon 3: 41,125,864–41,126,040, 177 basesExon 4: 41,127,487–41,127,748, 262 basesExon 5: 41,129,890–41,130,003, 114 basesExon 6: 41,131,388–41,131,633, 246 basesExon 7: 41,135,813–41,135,906, 94 basesExon 8: 41,137,653–41,137,790, 138 basesExon 9: 41,140,140–41,140,257, 118 basesExon 10: 41,141,048–41,141,222, 175 basesExon 11: 41,146,739–41,146,816, 78 basesExon 12: 41,147,837–41,147,946, 110 basesExon 13: 41,149,038–41,149,175, 138 basesExon 14: 41,149,761–41,150,198, 438 basesExon 15: 41,151,833–41,152,012, 180 basesExon 16: 41,152,206–41,152,350, 145 basesExon 17: 41,154,995–41,155,113, 119 basesExon 18: 41,157,169–41,157,408, 240 basesExon 19: 41,158,412–41,158,500, 89 basesExon 20: 41,160,642–41,160,722, 81 basesExon 21: 41,162,723–41,162,779, 57 basesExon 22: 41,164,053–41,164,130, 78 basesExon 23: 41,166,599–41,166,666, 68 basesExon 24: 41,168,449–41,168,599, 151 basesExon 25: 41,168,721–41,168,867, 147 basesExon 26: 41,169,503–41,169,616, 114 basesExon 27: 41,170,406–41,170,571, 166 basesExon 28: 41,172,499–41,172,663, 165 basesExon 29: 41,173,623–41,173,784, 162 basesExon 30: 41,176,247–41,176,528, 282 basesExon 31: 41,176,773–41,180,077, 3,305 bases151015202530315′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 8.8 kb of the gene's 87.5 kb; 7,245 of those bases code for the protein.

    How a genome test reads EP300

    141

    positions in EP300 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 87.5 kb of EP300, introns included, not only the 8.8 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). EP300 gene: EP300 lysine acetyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/ep300

    Vancouver

    Dante Labs. EP300 gene: EP300 lysine acetyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ep300

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