Entry - *611000 - ENHANCER OF POLYCOMB HOMOLOG 2; EPC2 - OMIM
 
* 611000

ENHANCER OF POLYCOMB HOMOLOG 2; EPC2


Alternative titles; symbols

ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 2
EPC-LIKE


HGNC Approved Gene Symbol: EPC2

Cytogenetic location: 2q23.1     Genomic coordinates (GRCh38): 2:148,644,751-148,787,569 (from NCBI)


TEXT

Cloning and Expression

The NuA4 histone acetyltransferase (HAT) complex is responsible for acetylation of the N-terminal tails of histone H4 (see 602822) and H2A (see 613499) in yeast. Its catalytic subunit, Esa1, is homologous to human TIP60 (HTATIP; 601409). Using affinity purification, Western blot analysis, cell fractionation, immunoprecipitation, and mass spectrometry, Doyon et al. (2004) found that TIP60 and its splice variant, TIP60B/PLIP, were part of a multisubunit NuA4 complex with HAT activity in several human cell lines. They identified human homologs for 11 of the 12 yeast NuA4 subunits, including EPC2. The EPC2 protein contains 763 amino acids.


Mapping

The International Radiation Hybrid Mapping Consortium mapped the EPC2 gene to chromosome 2 (RH65535).


Animal Model

In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human EPC2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning).


REFERENCES

  1. Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. High-throughput discovery of novel developmental phenotypes. Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017. [PubMed: 27626380, related citations] [Full Text]

  2. Doyon, Y., Selleck, W., Lane, W. S., Tan, S., Cote, J. Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans. Molec. Cell. Biol. 24: 1884-1896, 2004. [PubMed: 14966270, images, related citations] [Full Text]


Contributors:
Ada Hamosh - updated : 02/16/2017
Creation Date:
Matthew B. Gross : 5/8/2007
carol : 01/02/2020
carol : 02/06/2018
alopez : 02/16/2017
mgross : 02/08/2013
mgross : 1/11/2013
wwang : 5/8/2007
mgross : 5/8/2007

* 611000

ENHANCER OF POLYCOMB HOMOLOG 2; EPC2


Alternative titles; symbols

ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 2
EPC-LIKE


HGNC Approved Gene Symbol: EPC2

Cytogenetic location: 2q23.1     Genomic coordinates (GRCh38): 2:148,644,751-148,787,569 (from NCBI)


TEXT

Cloning and Expression

The NuA4 histone acetyltransferase (HAT) complex is responsible for acetylation of the N-terminal tails of histone H4 (see 602822) and H2A (see 613499) in yeast. Its catalytic subunit, Esa1, is homologous to human TIP60 (HTATIP; 601409). Using affinity purification, Western blot analysis, cell fractionation, immunoprecipitation, and mass spectrometry, Doyon et al. (2004) found that TIP60 and its splice variant, TIP60B/PLIP, were part of a multisubunit NuA4 complex with HAT activity in several human cell lines. They identified human homologs for 11 of the 12 yeast NuA4 subunits, including EPC2. The EPC2 protein contains 763 amino acids.


Mapping

The International Radiation Hybrid Mapping Consortium mapped the EPC2 gene to chromosome 2 (RH65535).


Animal Model

In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human EPC2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning).


REFERENCES

  1. Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. High-throughput discovery of novel developmental phenotypes. Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017. [PubMed: 27626380] [Full Text: https://doi.org/10.1038/nature19356]

  2. Doyon, Y., Selleck, W., Lane, W. S., Tan, S., Cote, J. Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans. Molec. Cell. Biol. 24: 1884-1896, 2004. [PubMed: 14966270] [Full Text: https://doi.org/10.1128/MCB.24.5.1884-1896.2004]


Contributors:
Ada Hamosh - updated : 02/16/2017

Creation Date:
Matthew B. Gross : 5/8/2007

Edit History:
carol : 01/02/2020
carol : 02/06/2018
alopez : 02/16/2017
mgross : 02/08/2013
mgross : 1/11/2013
wwang : 5/8/2007
mgross : 5/8/2007