Disease-gene associations mined from literature

Literature associating CDK5RAP2 and microcephalic osteodysplastic primordial dwarfism type II

CDK5RAP2 [ENSP00000343818]

CDK5 regulatory subunit-associated protein 2; 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 EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gamma-TuRC) onto centrosomes . In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery . Required for the recruitment of AKAP9 to centrosomes . Plays a role in neurogenesis (By similarity). ECO:0000269|PubMed:17959831, ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:19282672, ECO:0000269|PubMed:19553473,

Synonyms:  CDK5RAP2,  A0A0A0MRG9,  B1AMJ5,  C9K0C9,  F8WBJ0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM