CASC5 (Cancer Susceptibility Candidate 5 )

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Cancer Susceptibility Candidate 5 (CASC5), which localizes to the kinetochore is required for both attachment of chromosome centromeres to the mitotic spindle and spindle assembly checkpoint signaling. CASC5 has undergone both an amino acid change and the gain of a post-transcriptional phosphoryation site after divergence from our common ancestor with chimpanzee. The former change was shown to occur after divergence from Neanderthal and Denisovan.

Mutations in CASC5 have been implicated in autosomal recessive primary microcephaly, a disorder characterized by small brain size and mild to moderate intellectual disability, and as such as been hypothesized to play a role in human brain size expansion.

Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
CASC5 Amino Acid Change


  1. The complete genome sequence of a Neanderthal from the Altai Mountains., Prüfer, Kay, Racimo Fernando, Patterson Nick, Jay Flora, Sankararaman Sriram, Sawyer Susanna, Heinze Anja, Renaud Gabriel, Sudmant Peter H., de Filippo Cesare, et al. , Nature, 2014 Jan 2, Volume 505, Issue 7481, p.43-9, (2014)
  2. The Human Condition- A Molecular Approach, Paabo, S. , Cell, Volume 157, Issue 1, p.216 - 226, (2014)
  3. Kinetochore KMN network gene CASC5 mutated in primary microcephaly., Genin, Anne, Desir Julie, Lambert Nelle, Biervliet Martine, Van Der Aa Nathalie, Pierquin Genevieve, Killian Audrey, Tosi Mario, Urbina Montse, Lefort Anne, et al. , Hum Mol Genet, 2012 Dec 15, Volume 21, Issue 24, p.5306-17, (2012)
  4. Identification of novel phosphorylation modification sites in human proteins that originated after the human-chimpanzee divergence., Kim, Dong Seon, and Hahn Yoonsoo , Bioinformatics, 2011 Sep 15, Volume 27, Issue 18, p.2494-501, (2011)