Species Human Entrez 55755 | Human Mouse Ensembl ENSG00000136861 | |
 | ||
Aliases CDK5RAP2, C48, Cep215, MCPH3, CDK5 regulatory subunit associated protein 2 External IDs MGI: 2384875 HomoloGene: 49533 GeneCards: CDK5RAP2 | ||
CDK5 regulatory subunit-associated protein 2 is a protein that in humans is encoded by the CDK5RAP2 gene. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined. CDK5RAP2 is homologous to the Drosophila protein centrosomin (cnn).
Contents
Function
Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase.
Clinical significance
A magnetic resonance imaging study has demonstrated a link between common variation in the CDK5RAP2 gene and brain structure. More specifically, associations were found between several single nucleotide polymorphisms (SNPs) and brain cortical surface area and total brain volume. These associations were found exclusively in male subjects and all SNPs were located upstream in non-exonic regions. The functional significance of these loci is not yet known. However, given their location close to regulatory elements, it is possible that they are involved in gene regulation, which suggests that common variance in brain structure could be associated with differences in gene regulation rather than protein structure, consistent with findings in other complex human traits.
Interactions
CDK5RAP2 has been shown to interact with CDK5R1.