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SLF2

Chr 10q24.31

SMC5/6 complex localization factor 2

Aliases:
FLJ10512, FLJ25012, hNSE6
MANE:
ENST00000238961.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic short stature

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Atelis syndrome 1

    0.71
  • Abnormality of the skeletal system

    0.42
  • anaphylaxis

    0.24
  • hereditary disease

    0.19
  • obesity disorder

    0.18
  • vascular disorder

    0.18
  • esophageal squamous cell carcinoma

    0.07
  • diffuse large B-cell lymphoma

    0.07
  • sleep apnea syndrome

    0.07
  • lymphoma

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SMC5-SMC6 complex localization factor protein 2

Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions (PubMed:25931565). Plays a role in SMC5-SMC6 complex recruitment for viral restriction. Forms a complex with SIMC1 and this complex is required to recruit SMC5-SMC6 complex to PML nuclear bodies and sites of viral replication (PubMed:36373674)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.