ESCO2 Gene Summary [Human]
This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ESCO2 |
| Official Name | establishment of sister chromatid cohesion N-acetyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:27230] |
| Ensembl ID | ENSG00000171320 |
| Bio databases IDs | |
| Aliases | establishment of sister chromatid cohesion N-acetyltransferase 2 |
| Synonyms | 2410004I17Rik, D030072L07Rik, EFO2, EFO2p, establishment of sister chromatid cohesion N-acetyltransferase 2, hEFO2, JHS, LOC683635, RBS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ESCO2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetyltransferase
- lysine N-acetyltransferase
- zinc-finger of acetyl-transferase ESCO
- ESCO1/2 acetyl-transferase
- enzyme
- protein binding
- acetyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- small cell lung cancer
- Roberts-SC phocomelia syndrome
- lung adenocarcinoma
- lung adenocarcinoma formation
- Juberg-Hayward syndrome
- agenesis
- Roberts syndrome
- hereditary disorder
role in cell
- expression in
- differentiation
- cohesion
- cohesion in
- stabilization in
- acetylation in
- segregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cell junction
- Golgi Apparatus
- chromosome
- nucleoplasm
- sex chromatin
- centromeres
- chromatin
- pericentric heterochromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ESCO2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sister chromatid cohesion
- protein localization to chromatin
- mitotic sister chromatid cohesion
- chromosome segregation
- regulation of DNA replication
- post-translational protein acetylation
- hemopoietic progenitor cell differentiation
- double-strand break repair
Cellular Component
Where in the cell the gene product is active
- XY body
- nucleus
- site of double-strand break
- chromocenter
- cell junction
- Golgi apparatus
- chromosome
- chromatin
- centromeric heterochromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- lysine N-acetyltransferase activity
- protein binding
- acetyltransferase activity
- metal ion binding
- N-acetyltransferase activity