E1A-Binding Protein, 400-KD

Alternative Names

  • EP400
  • p400
  • CAGH32
  • KIAA1498
  • KIAA1818
  • Domino, Drosophila, Homolog of
  • Trinucleotide Repeat-Containing Gene 12
  • TNRC12
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OMIM Number

606265

NCBI Gene ID

57634

Uniprot ID

Q96L91

Length

130,519 bases

No. of Exons

53

No. of isoforms

5

Protein Name

E1A-binding protein p400

Molecular Mass

343489 Da

Amino Acid Count

3159

Genomic Location

chr12:131,949,942-132,080,460

Gene Map Locus
12q24.33

Description

The EP400 gene encodes a subunit of the NuA4 histone acetyltransferase (HAT) complex, which is responsible for carrying out the acetylation of the nucleosomal histones H2A and H4. This modification is believed to help activate the transcription of certain genes, presumably by altering nucleosome-DNA interactions and promoting the association of the modified histones with other transcription-regulating proteins. Genes suspected to be targeted for transcriptional activation by this complex include E2F1 and MYC during cellular proliferation as well as ZNF42. While EP400 is ubiquitously expressed, overexpression of the gene is seen in peripheral blood mononuclear cells, CD8 T-cells, lymph node, B lymphocytes and placenta.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015409.5:c.323C>TUnited Arab EmiratesNC_000012.12:g.131960942C>TLikely BenignNM_015409.5:c.323C>T; NP_056224.3:p.Ala108Val762116055

Other Reports

Saudi Arabia

Monies et al. (2017) described the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 5-year-old male from a consanguineous family, presented with global developmental delay, epilepsy and congenital heart disease. Using whole exome sequencing, a heterozygous mutation (c.8226_8227insGCAACAG, p.Q2742fs) was identified in exon 47 of the patient’s EP400 gene. It was considered a candidate for pathogenicity as it was a novel truncating variant and because of EP400’s role as a chromatin modulator (a class of genes often implicated in intellectual disability and heart disease). The authors noted the need for independent confirmation of this association. 

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