CENPC

Chr 4

centromere protein C

Also known as: CENP-C, CENPC1, MIF2, hcp-4

NCBI Gene: 1060ENSG00000145241UniProt: Q03188

Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.000
Z-score 3.88
OE 0.36 (0.24–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.76Z-score
OE missense 0.90 (0.82–0.98)
379 obs / 422.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.24–0.55)
0≤0.351.4
Missense OE?0.90 (0.82–0.98)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 15 / 42.3Missense obs/exp: 379 / 422.8Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CENPC · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients