SLF2
Chr 10ARSMC5/6 complex localization factor 2
Also known as: ATELS1, C10orf6, FAM178A, hNSE6
SLF2 encodes a protein that regulates DNA double-strand break repair by promoting recruitment of the SMC5-SMC6 DNA repair complex to sites of DNA damage and replication stress. Biallelic mutations cause Atelis syndrome 1, an autosomal recessive disorder characterized by genomic instability. The gene is highly constrained against loss-of-function variants (LOEUF 0.544), indicating that complete loss of protein function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLF2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools