CCNC: Cyclin C – A Key Regulator of Transcription and Cell Cycle
Comprehensive gene card for CCNC, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CCNC |
|---|---|
| Full Name | Cyclin C |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 892 ncbi.nlm.nih.gov/gene/892 |
| Ensembl ID | ENSG00000112237 |
| UniProt ID | P24863 |
| OMIM ID | 123838 |
| HGNC ID | 1581 |
| Aliases | CycC, hSRB11, SRB11 |
Description
CCNC encodes Cyclin C, a regulatory subunit of the cyclin-dependent kinase 8 (CDK8) module of the Mediator complex. This complex is essential for transcriptional regulation by bridging transcription factors and RNA polymerase II. Cyclin C also plays roles in cell cycle progression, apoptosis, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary nonpolyposis colorectal cancer (Lynch syndrome) | Altered Mediator complex function may affect DNA repair gene transcription | PMID: 23542688 |
| B-cell lymphoma | Cyclin C overexpression drives CDK8-mediated oncogenic transcription | PMID: 25242045 |
| Neurodevelopmental disorders | De novo missense variants impair CDK8 binding and transcriptional regulation | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 15.1 | Medium |
| Kidney | 10.5 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Ubiquitous expression |
| HeLa | 11.8 | Moderate expression |
| K562 | 9.5 | Low expression |
| HepG2 | 13.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.835C>T (p.Arg279Cys) | Missense | <0.01% | Reduced CDK8 binding; associated with neurodevelopmental delay |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Impaired Mediator complex assembly |
| c.124_125insA (p.Thr42Asnfs*5) | Frameshift | <0.001% | Loss of function; rare in population |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate Cyclin C, reducing CDK8 module stability and transcriptional regulation.
Gain of Function (GOF)
Amplification of CCNC observed in some cancers leads to increased CDK8 activity and oncogenic transcription.
Dominant Negative (DN)
Missense variants that disrupt CDK8 binding without complete loss of protein, interfering with Mediator complex function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mediator complex (CDK8 module) – transcriptional regulation
• Cell cycle – G1/S transition
• p53 signaling pathway – response to stress
Protein Summary
Cyclin C is a 283-amino-acid protein that forms a heterodimer with CDK8. It contains a cyclin box domain responsible for CDK binding and activation. The Cyclin C–CDK8 complex phosphorylates transcription factors and other Mediator subunits to modulate gene expression. Cyclin C is ubiquitously expressed and localizes to the nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCNC Knockout HEK293 Cell Line | EDJ-KQ4205 | Human | 892 | Details Get a Quote |
| CCNC Knockout A-549 Cell Line | EDJ-KQ26674 | Human | 892 | Details Get a Quote |
| CCNC Knockout HCT 116 Cell Line | EDJ-KQ26675 | Human | 892 | Details Get a Quote |
| CCNC Knockout HeLa Cell Line | EDJ-KQ26676 | Human | 892 | Details Get a Quote |
