Gene: CDK5RAP2

Alternate names for this Gene: C48|Cep215|MCPH3

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q33.2

Description of this Gene: CDK5 regulatory subunit associated protein 2

Type of Gene: protein-coding

rs1554728351 in CDK5RAP2 gene and Microcephaly, Primary Autosomal Recessive, 3 PMID 28778786 2017 A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

PMID 27761245 2016 Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

PMID 15793586 2005 A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

rs12379034 in CDK5RAP2 gene and Rheumatoid Arthritis PMID 24782177 2014 Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.