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GenoLensGenoLens

CDCA8

Chr 1p34.3

cell division cycle associated 8

Aliases:
FLJ12042, MESRGP, BOR, DasraB
MANE:
ENST00000373055.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Congenital hypothyroidism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Neutrophil inclusion bodies

    0.26
  • hypothyroidism, congenital, nongoitrous, 2

    0.19
  • congenital hypothyroidism

    0.19
  • glomerulonephritis

    0.16
  • hepatocellular carcinoma

    0.12
  • neoplasm

    0.11
  • breast cancer

    0.10
  • central nervous system cancer

    0.09
  • posterior cortical atrophy

    0.08
  • glioma

    0.08

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

Protein function (UniProt)

Borealin

Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment-error-correction and chromosome alignment

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.