CCNB3

Chr X

cyclin B3

Also known as: CYCB3

The encoded protein functions as a cyclin that regulates cyclin-dependent kinases during cell cycle control, particularly during early meiotic prophase I. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variation, indicating critical developmental importance.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.36
Clinical SummaryCCNB3
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.86) — some intolerance to loss-of-function variants.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.36LOEUF
pLI 0.858
Z-score 4.34
OE 0.18 (0.100.36)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.84Z-score
OE missense 0.89 (0.820.97)
429 obs / 480.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.100.36)
00.351.4
Missense OE0.89 (0.820.97)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 6 / 32.8Missense obs/exp: 429 / 480.8Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCNB3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC