CENPE Chromosome 4
Centromere protein E
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What This Gene Does
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. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
"Kinesins|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000138778
Associated Conditions (5)
CENPE-related disorder
See cases
Microcephaly 13
primary
autosomal recessive
Key Variants
RS111281600
Conflicting classifications of pathogenicity
CENPE-related disorder, CENPE-related disorder
Health Risk
RS114698062
Conflicting classifications of pathogenicity
CENPE-related disorder, CENPE-related disorder
Health Risk
RS115065523
Conflicting classifications of pathogenicity
Health Risk
RS116330917
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS141321114
Conflicting classifications of pathogenicity
Health Risk
RS141813170
Conflicting classifications of pathogenicity
Health Risk
RS144716013
Conflicting classifications of pathogenicity
Microcephaly 13, primary, autosomal recessive
Health Risk
RS148969710
Conflicting classifications of pathogenicity
CENPE-related disorder, CENPE-related disorder
Health Risk
RS61751594
Conflicting classifications of pathogenicity
Health Risk
RS61756293
Conflicting classifications of pathogenicity
Health Risk
RS1131691869
Likely pathogenic
Health Risk
RS1754377539
Likely pathogenic
Microcephaly 13, primary, autosomal recessive
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111281600 | Health Risk | Conflicting classifications of pathogenicity | CENPE-related disorder, CENPE-related disorder |
| RS114698062 | Health Risk | Conflicting classifications of pathogenicity | CENPE-related disorder, CENPE-related disorder |
| RS115065523 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS116330917 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS141321114 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141813170 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144716013 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 13, primary, autosomal recessive |
| RS148969710 | Health Risk | Conflicting classifications of pathogenicity | CENPE-related disorder, CENPE-related disorder |
| RS61751594 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61756293 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1131691869 | Health Risk | Likely pathogenic | — |
| RS1754377539 | Health Risk | Likely pathogenic | Microcephaly 13, primary, autosomal recessive |
| RS2476023716 | Health Risk | Likely pathogenic | Microcephaly 13, primary, autosomal recessive |
| RS2476093208 | Health Risk | Likely pathogenic | Microcephaly 13, primary, autosomal recessive |