WDR62 gene

WD repeat domain 62

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

From NCBI Gene:

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Primary autosomal recessive microcephaly 2

From UniProt:

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2): A disease characterized by microcephaly, moderate to severe mental retardation, 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. [MIM:604317]

Cytogenetic Location: 19q13.12, which is the long (q) arm of chromosome 19 at position 13.12

Molecular Location: base pairs 36,054,881 to 36,111,145 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.12, which is the long (q) arm of chromosome 19 at position 13.12
  • C19orf14
  • MCPH2