ESCO2: Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2
A key cohesion gene in Roberts syndrome and cell cycle regulation
Gene Information Card
| Symbol | ESCO2 |
|---|---|
| Full Name | Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.1 |
| NCBI Gene ID | 157570 ncbi.nlm.nih.gov/gene/157570 |
| Ensembl ID | ENSG00000104412 |
| UniProt ID | Q56NI9 |
| OMIM ID | 609353 |
| HGNC ID | 19030 |
| Aliases | ECO1, EFO2, RBS |
Description
The ESCO2 gene encodes a member of the Eco1 family of acetyltransferases, which is required for the establishment of sister chromatid cohesion during S phase. The protein acetylates the cohesin complex subunit SMC3, stabilizing the cohesin ring around sister chromatids. Mutations in ESCO2 cause Roberts syndrome, a rare autosomal recessive disorder characterized by craniofacial defects, limb malformations, and growth retardation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Roberts syndrome | Loss-of-function mutations in ESCO2 impair SMC3 acetylation, leading to cohesion defects and premature sister chromatid separation | OMIM #268300 |
| SC phocomelia syndrome | Same molecular mechanism as Roberts syndrome; allelic disorder | OMIM #269000 |
| Cornelia de Lange syndrome-like phenotype | ESCO2 mutations identified in patients with CdLS-like features, though rare | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 7.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 10.2 | Leukemia cell line |
| HeLa | 8.9 | Cervical carcinoma |
| HEK293 | 7.5 | Embryonic kidney |
| HepG2 | 6.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1111C>T (p.Arg371Ter) | Nonsense | Common in Roberts syndrome | Loss of function |
| c.760C>T (p.Arg254Trp) | Missense | Rare | Loss of function |
| c.183_184del (p.Glu62fs) | Frameshift | Reported in Roberts syndrome | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of ESCO2 mutations are loss-of-function, leading to reduced or absent acetyltransferase activity and cohesion defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sister chromatid cohesion (Reactome: R-HSA-2467813)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Cohesin loading onto chromatin (Reactome: R-HSA-2470946)
Protein Summary
ESCO2 is a nuclear acetyltransferase that specifically acetylates SMC3 at lysine residues K105 and K106, a modification essential for the establishment of sister chromatid cohesion. The protein contains a C2H2-type zinc finger domain and an acetyltransferase domain. It is expressed in proliferating tissues and is critical for proper chromosome segregation during mitosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESCO2 Knockout HEK293 Cell Line | EDJ-KQ13327 | Human | 157570 | Details Get a Quote |
| ESCO2 Knockout A-549 Cell Line | EDJ-KQ42796 | Human | 157570 | Details Get a Quote |
| ESCO2 Knockout HCT 116 Cell Line | EDJ-KQ42797 | Human | 157570 | Details Get a Quote |
| ESCO2 Knockout HeLa Cell Line | EDJ-KQ42798 | Human | 157570 | Details Get a Quote |
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