CCNI2
Cyclin I2: A Cell Cycle Regulator with Emerging Roles in Cancer and Development
Gene Information Card
| Symbol | CCNI2 |
|---|---|
| Full Name | Cyclin I2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 645557 ncbi.nlm.nih.gov/gene/645557 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q6ZMN8 |
| OMIM ID | 616448 |
| HGNC ID | 33818 |
| Aliases | Cyclin I2, CCNI-2, cyclin I-2 |
Description
CCNI2 encodes cyclin I2, a member of the cyclin family involved in cell cycle regulation. Cyclin I2 is thought to function in the control of the G1/S phase transition and may have roles in neuronal development and cancer. The protein contains a cyclin box domain and is expressed in multiple tissues, with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may disrupt cell cycle control, promoting proliferation | COSMIC; TCGA |
| Neurodevelopmental disorders | Potential role in neuronal differentiation and synaptic function | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 4.1 | Low |
| Liver | 2.3 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| SH-SY5Y | 14.1 | High expression |
| HepG2 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116Gln) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.523C>T (p.Arg175Trp) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT, PolyPhen) |
| c.745_746insA | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.745_746insA) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cyclin-dependent protein serine/threonine kinase regulator activity | • cell cycle |
| • G1/S transition of mitotic cell cycle | • nucleus |
| • cytoplasm |
Pathways
• Cell Cycle
• G1/S Checkpoint
Protein Summary
Cyclin I2 is a 45 kDa protein containing a cyclin box domain. It interacts with cyclin-dependent kinases (CDKs) to regulate cell cycle progression. Expression is enriched in testis and brain, suggesting roles in spermatogenesis and neurodevelopment. Structural studies indicate a conserved cyclin fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCNI2 Knockout HEK293 Cell Line | EDJ-KQ12821 | Human | 645121 | Details Get a Quote |
| CCNI2 Knockout HeLa Cell Line | EDJ-KQ60581 | Human | 645121 | Details Get a Quote |
| CCNI2 Knockout A-549 Cell Line | EDJ-KQ69051 | Human | 645121 | Details Get a Quote |
| CCNI2 Knockout HCT 116 Cell Line | EDJ-KQ77406 | Human | 645121 | Details Get a Quote |
