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NCAPD3

Chr 11q25

non-SMC condensin II complex subunit D3

Aliases:
hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888
MANE:
ENST00000534548.7

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • microcephaly 22, primary, autosomal recessive

    0.61
  • autosomal recessive primary microcephaly

    0.50
  • placenta praevia

    0.24
  • alcohol drinking

    0.22
  • bronchiectasis

    0.22
  • urolithiasis

    0.21
  • posterior cortical atrophy

    0.09
  • gastric cancer

    0.08
  • neoplasm

    0.08
  • colorectal carcinoma

    0.08

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

Protein function (UniProt)

Condensin-2 complex subunit D3

Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Specifically required for decatenation of centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959)

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.