KIF22

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

kinesin family member 22

Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity).
Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205).

DNA repairIEA:InterPro
Metaphase plate congressionManual Assertion Based On ExperimentIMP:UniProtKB
Microtubule-based movementManual Assertion Based On ExperimentIBA:GO_Central
Mitotic cell cycleManual Assertion Based On ExperimentTAS:ProtInc
Mitotic metaphase plate congressionManual Assertion Based On ExperimentIMP:UniProtKB
Sister chromatid cohesionManual Assertion Based On ExperimentIMP:UniProtKB

Nucleus; Cytoplasm, cytoskeleton

Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2):
A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.

Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation.