WDR62

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants.

Full Name

WD repeat domain 62

Function

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831).
Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).

Biological Process

Biological Process centriole replication Source:UniProtKB1 Publication
Biological Process cerebral cortex development Source:UniProtKB1 Publication
Biological Process mitotic spindle organization Source:MGI1 Publication
Biological Process neurogenesis Source:UniProtKB1 Publication
Biological Process positive regulation of neuroblast proliferation Source:Ensembl
Biological Process positive regulation of neuron migration Source:Ensembl
Biological Process regulation of centrosome cycle Source:Ensembl
Biological Process regulation of neuron differentiation Source:Ensembl

Cellular Location

Nucleus
Cytoplasm, cytoskeleton, spindle pole
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole
Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis. Colocalizes with CDK5RAP2, CEP152 and WDR62 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles.

Involvement in disease

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2):
A disease characterized by microcephaly, moderate to severe intellectual disability, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.