CDK5RAP2

CDK5 regulatory subunit associated protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

From UniProt:

Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of a gamma-tubulin ring complex onto centrosomes (PubMed:26485573).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Primary autosomal recessive microcephaly 3

From UniProt:

Microcephaly 3, primary, autosomal recessive (MCPH3): A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. [MIM:604804]

Cytogenetic Location: 9q33.2, which is the long (q) arm of chromosome 9 at position 33.2

Molecular Location: base pairs 120,388,869 to 120,580,170 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q33.2, which is the long (q) arm of chromosome 9 at position 33.2
  • C48
  • Cep215
  • MCPH3