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XRCC2

Chr 7q36.1

X-ray repair cross complementing 2

Aliases:
FANCU
MANE:
ENST00000359321.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies for rare disease

    BIALLELIC, autosomal or pseudoautosomal
  • Confirmed Fanconi anaemia or Bloom syndrome

    BIALLELIC, autosomal or pseudoautosomal
  • Pigmentary skin disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Familial breast cancer

  • Inherited ovarian cancer (without breast cancer)

Disease associations (Open Targets)

  • spermatogenic failure 50

    0.60
  • Fanconi anemia

    0.56
  • hereditary neoplastic syndrome

    0.55
  • Inherited cancer-predisposing syndrome

    0.55
  • cancer

    0.55
  • Fanconi anemia complementation group U

    0.52
  • myelodysplastic syndrome

    0.47
  • acute myeloid leukemia

    0.46
  • premature ovarian failure 17

    0.46
  • primary ovarian failure

    0.46

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

Protein function (UniProt)

DNA repair protein XRCC2

Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA

Curated MONDO disease pages that list XRCC2 among their top associated genes.

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.