SLF2

Chr 10AR

SMC5/6 complex localization factor 2

Also known as: ATELS1, C10orf6, FAM178A, hNSE6

NCBI Gene: 55719 ENSG00000119906 UniProt: Q8IX21 OMIM: 610348

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.541 OMIM phenotype

Clinical Summary— SLF2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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