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 |
|---|---|---|---|
| RS1563468940 | Health Risk | Pathogenic | — |
| RS1585389705 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS1804770574 | Health Risk | Pathogenic | — |
| RS1804799285 | Health Risk | Pathogenic | — |
| RS1804802088 | Health Risk | Pathogenic | — |
| RS1804802146 | Health Risk | Pathogenic | — |
| RS1804802649 | Health Risk | Pathogenic | — |
| RS1804806714 | Health Risk | Pathogenic | — |
| RS1804811181 | Health Risk | Pathogenic | — |
| RS1804893340 | Health Risk | Pathogenic | — |
| RS1805082639 | Health Risk | Pathogenic | — |
| RS1805083417 | Health Risk | Pathogenic | — |
| RS1805186461 | Health Risk | Pathogenic | — |
| RS1805188732 | Health Risk | Pathogenic | — |
| RS1805378816 | Health Risk | Pathogenic | — |
| RS1805491311 | Health Risk | Pathogenic | — |
| RS2128951023 | Health Risk | Pathogenic | — |
| RS2128951038 | Health Risk | Pathogenic | — |
| RS2128951088 | Health Risk | Pathogenic | — |
| RS2128951089 | Health Risk | Pathogenic | — |
| RS2128951189 | Health Risk | Pathogenic | — |
| RS2128951192 | Health Risk | Pathogenic | — |
| RS2128951206 | Health Risk | Pathogenic | — |
| RS2128951232 | Health Risk | Pathogenic | — |
| RS2128951287 | Health Risk | Pathogenic | — |
| RS2128951366 | Health Risk | Pathogenic | — |
| RS2128952254 | Health Risk | Pathogenic | — |
| RS2128955170 | Health Risk | Pathogenic | — |
| RS2128957692 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS2486624226 | Health Risk | Pathogenic | — |
| RS2486626369 | Health Risk | Pathogenic | — |
| RS2486626691 | Health Risk | Pathogenic | — |
| RS2486626922 | Health Risk | Pathogenic | — |
| RS2486627198 | Health Risk | Pathogenic | — |
| RS2486627494 | Health Risk | Pathogenic | — |
| RS2486627663 | Health Risk | Pathogenic | Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS2486628020 | Health Risk | Pathogenic | — |
| RS2486628069 | Health Risk | Pathogenic | — |
| RS2486628591 | Health Risk | Pathogenic | — |
| RS2486629241 | Health Risk | Pathogenic | — |
| RS2486629264 | Health Risk | Pathogenic | — |
| RS2486629416 | Health Risk | Pathogenic | — |
| RS2486637207 | Health Risk | Pathogenic | — |
| RS2486637516 | Health Risk | Pathogenic | — |
| RS2486644720 | Health Risk | Pathogenic | — |
| RS2486654234 | Health Risk | Pathogenic | — |
| RS2486657253 | Health Risk | Pathogenic | — |
| RS2486663680 | Health Risk | Pathogenic | — |
| RS2486665521 | Health Risk | Pathogenic | — |
| RS2486666085 | Health Risk | Pathogenic | — |