Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Esco2provided by MGI
Official Full Name: establishment of sister chromatid cohesion N-acetyltransferase 2provided by MGI
Primary source: MGI:MGI:1919238
See related: Ensembl:ENSMUSG00000022034 AllianceGenome:MGI:1919238
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2410004I17Rik; D030072L07Rik
Summary: Enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor. Acts upstream of or within several processes, including double-strand break repair; hematopoietic progenitor cell differentiation; and protein localization to chromatin. Located in chromocenter and chromosome. Is expressed in several structures, including alimentary system; brain; gonad; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Roberts syndrome and lung adenocarcinoma. Orthologous to human ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver E14 (RPKM 10.1), liver E14.5 (RPKM 7.6) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 34.36 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (66056476..66071418, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (65819027..65833969, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ESCO2 promotes hypopharyngeal carcinoma progression in a STAT1-dependent manner.
Title: ESCO2 promotes hypopharyngeal carcinoma progression in a STAT1-dependent manner.
Molecular Profiling Reveals Involvement of ESCO2 in Intermediate Progenitor Cell Maintenance in the Developing Mouse Cortex.
Title: Molecular Profiling Reveals Involvement of ESCO2 in Intermediate Progenitor Cell Maintenance in the Developing Mouse Cortex.
Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2.
Title: Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2.
Alternative catalytic residues in the active site of Esco acetyltransferases.
Title: Alternative catalytic residues in the active site of Esco acetyltransferases.
ESCO2 knockdown inhibits cell proliferation and induces apoptosis in gastric cancer cells.
Title: ESCO2 knockdown inhibits cell proliferation and induces apoptosis in human gastric cancer cells.
the involvement of Esco2 in spindle assembly checkpoint and kinetochore functions is mediated by its binding to histone H4 and acetylation of H4K16 both in vivo and in vitro
Title: Cohesin acetyltransferase Esco2 regulates SAC and kinetochore functions via maintaining H4K16 acetylation during mouse oocyte meiosis.
To Roberts syndrome(RBS), mouse Esco2 turns out to be a cell viability factor, the absence of which results in severe chromosome segregation defects and apoptosis.
Title: The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions.
ESCO2 may play a vital role in meiosis in both males and females.
Title: Localization and regulation of murine Esco2 during male and female meiosis.
Esco2 is needed for cohesin acetylation in PCH and that this modification is required for the proper distribution of cohesin on mitotic chromosomes and for centromeric cohesion
Title: Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin.
Esco2 promotes neuronal differentiation by repressing Notch signaling.
Title: Esco2 promotes neuronal differentiation by repressing Notch signaling.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

General gene information

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Markers

Esco2 (e-PCR), detects polymorphism
- UniSTS:506886

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Esco2 (e-PCR), detects polymorphism
- UniSTS:548021

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptide-lysine-N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide-lysine-N-acetyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mitotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in post-translational protein acetylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA replication	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA replication	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in XY body	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in chromocenter	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in pericentric heterochromatin	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-acetyltransferase ESCO2

Names: ECO1 homolog 2; establishment of cohesion 1 homolog 2

NP_082315.3

EC 2.3.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.