AlphaFold predicted structure
ESCO2 · Q56NI9
Mean pLDDT
58.4/ 100
Low
601 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)9%
- Low(50–70)6%
- Very low(< 50)58%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ESCO2
Chr 8p21.1establishment of sister chromatid cohesion N-acetyltransferase 2
- Aliases:
- EFO2
- MANE:
- ENST00000305188.13
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalRadial dysplasia
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Roberts-SC phocomelia syndrome
0.82Juberg-Hayward syndrome
0.71hereditary disease
0.49Absent radius
0.46hypercholesterolemia, familial, 1
0.33glomerulonephritis
0.24temporal arteritis
0.19Hereditary breast and ovarian cancer syndrome
0.12hereditary breast ovarian cancer syndrome
0.12neoplasm
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
N-acetyltransferase ESCO2
Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234)