CCNB3
protein-codingcyclin B3, the group of Cyclins
Gene summary
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~149.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CCNB3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_033031.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | 6 | 3 | 16 | ||
| missense | 1 | 4 | 149 | 21 | 2 | 177 |
| nonsense | 13 | 13 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 11 | 11 | ||||
| Total | 1 | 4 | 180 | 27 | 5 | 217 |
Highest pathogenic variant AF is 0.000023165576
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_149020.2 | 11 | MANE Select | |
| Ensembl | ENSP00000365210.1 | 11 | MANE Select | |
| RefSeq | NP_391990.1 | 7 | Standard | |
| Ensembl | ENSP00000276014.7 | 11 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cell cycle - Homo sapiens (human)
- FoxO signaling pathway - Homo sapiens (human)
- Cellular senescence - Homo sapiens (human)
- Progesterone-mediated oocyte maturation - Homo sapiens (human)
- Cell Cycle
Biological Process
- regulation of cyclin-dependent protein serine/threonine kinase activity
- mitotic cell cycle
- protein phosphorylation
- regulation of mitotic nuclear division
- positive regulation of cell population proliferation
Molecular Function
- protein kinase activity
- protein binding
- cyclin-dependent protein serine/threonine kinase regulator activity
- protein kinase binding
Cellular Component
- cyclin-dependent protein kinase holoenzyme complex
- nucleus
- cytoplasm
- centrosome
- nuclear speck
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000376042
- Coding exons
- 11
- Length
- 127546
- Individuals with no LoFs
- 125388
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 2
- Defined
- 125392
- p
- 0.0000160
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.840 | 429 | 481 | 0.892 | 0.0000333 | 9223 |
| Missense (PolyPhen) | 39 | 81.757 | 0.47702 | 1757 | ||
| Synonymous | 1.33 | 169 | 192 | 0.878 | 0.0000138 | 2608 |
| Loss of Function | 4.34 | 6 | 32.8 | 0.183 | 0.00000230 | 736 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000079 | 0.000054 | rare |
| Finnish | 0.000073 | 0.000046 | rare |
| European (Non-Finnish) | 0.000025 | 0.000018 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Cyclins are positive regulatory subunits of the cyclin- dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I. {ECO:0000269|PubMed:12185076}.;
Intolerance Scores
- LoFtool
- 0.418
- RVIS EVS
- -0.44
- RVIS percentile EVS
- 24.6
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |