Gene: CENPE

Alternate names for this Gene: CENP-E|KIF10|MCPH13|PPP1R61

Gene Summary: Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms.

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: centromere protein E

Type of Gene: protein-coding

rs13114629 in CENPE gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs141488085 in CENPE gene and MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE PMID 24748105 2014 Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

rs2720460 in CENPE gene and Testicular Germ Cell Tumor PMID 25877299 2015 Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.

PMID 28604732 2017 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

rs2720460 in CENPE gene and Testicular Neoplasms PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.