CETN3: Centrin-3 – A Key Component of Centrosome and Microtubule Organization
Comprehensive genomic, proteomic, and clinical overview of CETN3 (centrin, EF-hand protein, 3)
Gene Information Card
| Symbol | CETN3 |
|---|---|
| Full Name | centrin, EF-hand protein, 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 1070 ncbi.nlm.nih.gov/gene/1070 |
| Ensembl ID | ENSG00000113575 |
| UniProt ID | O15182 |
| OMIM ID | 602907 |
| HGNC ID | 1867 |
| Aliases | CEN3, centrin-3 |
Description
CETN3 (centrin, EF-hand protein, 3) encodes a member of the centrin family of calcium-binding proteins. Centrin-3 localizes to the centrosome and is essential for centrosome duplication, microtubule organization, and cell cycle progression. It interacts with other centrosomal proteins and is involved in the formation of the mitotic spindle and ciliary assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Defective ciliary assembly due to CETN3 loss-of-function variants | ClinVar, OMIM |
| Cancer (breast, ovarian) | Overexpression or amplification of CETN3 disrupts centrosome number control, promoting aneuploidy | COSMIC, literature |
| Microcephaly | Biallelic CETN3 mutations impair neuroprogenitor cell division | OMIM, case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 15.3 | High expression; centrosomal localization confirmed |
| HEK293 (embryonic kidney) | 10.1 | Moderate expression |
| MCF7 (breast cancer) | 18.7 | Overexpressed relative to normal breast tissue |
| A549 (lung carcinoma) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Loss of calcium binding; reduced centrosomal localization |
| c.478_480del (p.Lys160del) | In-frame deletion | <0.001% | Impaired interaction with Sfi1; centrosome duplication defect |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Complete loss of protein expression; associated with PCD |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., start loss, frameshift) cause primary ciliary dyskinesia and microcephaly.
Gain of Function (GOF)
Amplification or overexpression in cancers leads to centrosome amplification and aneuploidy.
Dominant Negative (DN)
Missense mutations in the EF-hand domain (e.g., p.Arg109Trp) disrupt calcium binding and can exert dominant-negative effects on centrosome duplication.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Centrosome duplication and maintenance (Reactome: R-HSA-380270)
• Cilium assembly (Reactome: R-HSA-5617833)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
Centrin-3 is a 20 kDa calcium-binding protein (172 amino acids) containing four EF-hand motifs. It localizes primarily to the centrosome and is essential for centrosome duplication and microtubule organization. The protein interacts with Sfi1 and other centrins to form a calcium-sensitive filamentous network. Post-translational modifications include phosphorylation, which regulates its localization during the cell cycle. Defects in CETN3 cause ciliary dysfunction and are implicated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CETN3 Knockout HEK293 Cell Line | EDJ-KQ50185 | Human | 1070 | Details Get a Quote |
| CETN3 Knockout HeLa Cell Line | EDJ-KQ52877 | Human | 1070 | Details Get a Quote |
| CETN3 Knockout A-549 Cell Line | EDJ-KQ61347 | Human | 1070 | Details Get a Quote |
| CETN3 Knockout HCT 116 Cell Line | EDJ-KQ69841 | Human | 1070 | Details Get a Quote |
