SKA2

Description

The SKA2 (spindle and kinetochore associated complex subunit 2) is a protein-coding gene located on chromosome 17.

Spindle and kinetochore-associated protein 2 (SKA2) is a protein encoded by the SKA2 gene located on human chromosome 17. SKA2 is part of a spindle and kinetochore-associated complex, which includes SKA1 and SKA3, responsible for initiating anaphase in mitosis by regulating chromosome segregation. SKA2 may serve as a prognostic gene marker for lung cancer and a potential biomarker for suicidal tendencies and post-traumatic stress disorders. The SKA2 gene contains a single-nucleotide polymorphism (SNP), rs7208505, located in the 3' UTR. This genetic variant, containing a cytosine instead of thymine (in the less common allele), along with epigenetic modifications (like DNA methylation), is associated with suicidal tendencies and post-traumatic stress. SKA2 protein was initially identified as a product of a hypothetical gene, FAM33A, part of a Spindle and Kinetochore (KT)-associated complex crucial for timely anaphase onset. SKA2 was recognized as a partner of SKA1 in 2006, hence its name. Later, the third component of the SKA complex, C13Orf3, was identified through mass spectrometry and subsequently referred to as SKA3. This complex plays a significant role during mitotic transition from metaphase to anaphase. The SKA2 gene product is a 121 amino acid long chain with a molecular weight of 14,188 Da, containing mainly 3 helices. Homologues of SKA2 protein, being very small, are found in several vertebrates but are absent in invertebrates.

SKA2 is part of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore essential for proper chromosome segregation. It is required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it is required for SKA1 localization. Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules.

SKA2 is also known as FAM33A.

Associated Diseases

WES Whole Exome Sequencing