CENPN
Chr 16centromere protein N
Also known as: BM039, C16orf60, CENP-N, ICEN32
The protein forms part of the nucleosome-associated complex that is essential for kinetochore assembly and chromosome segregation by directly binding to CENPA nucleosomes at centromeres. Mutations cause autosomal recessive primary microcephaly with growth retardation and developmental delays. This gene is moderately constrained against loss-of-function variants, and the condition typically presents in early infancy with severe microcephaly and failure to thrive.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
157 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 54 | 27 | 0 | 81 |
Likely Benign | 0 | 4 | 1 | 0 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 58 | 70 | 0 | 128 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CENPN · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools