SLF2 Chromosome 10
SMC5/6 complex localization factor 2
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What This Gene Does
Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in PML body; chromatin; and site of double-strand break. Implicated in mosaic variegated aneuploidy syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Inborn genetic diseases
Atelis syndrome 1
Key Variants
RS35608448
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1212696529
Pathogenic
Atelis syndrome 1, Atelis syndrome 1
Health Risk
RS1266675910
Pathogenic
Atelis syndrome 1, Atelis syndrome 1
Health Risk
RS2493361251
Pathogenic
Atelis syndrome 1, Atelis syndrome 1
Health Risk
RS2493386649
Pathogenic
Atelis syndrome 1, Atelis syndrome 1
Health Risk
RS2493419778
Pathogenic
Atelis syndrome 1, Atelis syndrome 1
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35608448 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1212696529 | Health Risk | Pathogenic | Atelis syndrome 1, Atelis syndrome 1 |
| RS1266675910 | Health Risk | Pathogenic | Atelis syndrome 1, Atelis syndrome 1 |
| RS2493361251 | Health Risk | Pathogenic | Atelis syndrome 1, Atelis syndrome 1 |
| RS2493386649 | Health Risk | Pathogenic | Atelis syndrome 1, Atelis syndrome 1 |
| RS2493419778 | Health Risk | Pathogenic | Atelis syndrome 1, Atelis syndrome 1 |