ESCO2 Chromosome 8
Establishment of sister chromatid cohesion N-acetyltransferase 2
Upload your DNA to see your personal genotypes for variants in ESCO2.
What This Gene Does
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]
Gene Info
Gene Group
Lysine acetyltransferases
Locus Type
gene with protein product
Location
8p21.1
Ensembl
ENSG00000171320
Associated Conditions (5)
Hereditary breast ovarian cancer syndrome
Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
ESCO2-related disorder
Inborn genetic diseases
Key Variants
RS115144373
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Roberts-SC phocomelia syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1421884058
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
Health Risk
RS143530690
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, ESCO2-related disorder
Health Risk
RS143539004
Conflicting classifications of pathogenicity
Inborn genetic diseases, Roberts-SC phocomelia syndrome, ESCO2-related disorder
Health Risk
RS145734811
Conflicting classifications of pathogenicity
ESCO2-related disorder, Inborn genetic diseases, Roberts-SC phocomelia syndrome
Health Risk
RS146312522
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
Health Risk
RS149494070
Conflicting classifications of pathogenicity
ESCO2-related disorder, Roberts-SC phocomelia syndrome, ESCO2-related disorder
Health Risk
RS1804814100
Conflicting classifications of pathogenicity
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
Health Risk
RS184200865
Conflicting classifications of pathogenicity
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
Health Risk
RS199653554
Conflicting classifications of pathogenicity
Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases
Health Risk
RS369338792
Conflicting classifications of pathogenicity
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
Health Risk
RS557813179
Conflicting classifications of pathogenicity
Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2486679687 | Health Risk | Pathogenic | — |
| RS750842366 | Health Risk | Pathogenic | Inborn genetic diseases, Roberts-SC phocomelia syndrome, Inborn genetic diseases |
| RS751469553 | Health Risk | Pathogenic | — |
| RS772577005 | Health Risk | Pathogenic | — |
| RS773908617 | Health Risk | Pathogenic | — |
| RS797045565 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359844 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359845 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359846 | Health Risk | Pathogenic | ESCO2-related disorder, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359847 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Inborn genetic diseases, Roberts-SC phocomelia syndrome |
| RS80359848 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359849 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359850 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359851 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359852 | Health Risk | Pathogenic | ESCO2-related disorder, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359855 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359856 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359857 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359861 | Health Risk | Pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359864 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359867 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359869 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS942479447 | Health Risk | Pathogenic | — |
| RS991672013 | Health Risk | Pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS1262117826 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS1368322558 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS1413591962 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS1804790650 | Health Risk | Pathogenic/Likely pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS2128951110 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS2128951191 | Health Risk | Pathogenic/Likely pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS2486628509 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS761404241 | Health Risk | Pathogenic/Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS768055962 | Health Risk | Pathogenic/Likely pathogenic | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS797045566 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359858 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359859 | Health Risk | Pathogenic/Likely pathogenic | Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359862 | Health Risk | Pathogenic/Likely pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |