CETN2 Gene - Centrin-2
Key regulator of centrosome duplication and DNA repair
Gene Information Card
| Symbol | CETN2 |
|---|---|
| Full Name | Centrin-2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 1069 ncbi.nlm.nih.gov/gene/1069 |
| Ensembl ID | ENSG00000100162 |
| UniProt ID | P41208 |
| OMIM ID | 300006 |
| HGNC ID | 1867 |
| Aliases | CALT2, CEN2, centrin-2 |
Description
CETN2 encodes centrin-2, a calcium-binding protein of the EF-hand superfamily. It is a core component of the centrosome and plays essential roles in centrosome duplication, microtubule organization, and nucleotide excision repair (NER) through interaction with the XPC complex. CETN2 is also involved in ciliogenesis and cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xeroderma Pigmentosum (XP) | Defective NER due to impaired XPC complex stability; CETN2 mutations reduce DNA damage recognition | ClinVar; OMIM #278780 |
| Primary Ciliary Dyskinesia | Disrupted ciliogenesis and centrosome function; CETN2 variants affect ciliary assembly | UniProt; PubMed studies |
| Cancer (e.g., breast, ovarian) | Centrosome amplification and genomic instability; CETN2 overexpression linked to tumorigenesis | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone Marrow | 15.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line; high expression |
| HEK293 | 18.7 | Embryonic kidney; moderate expression |
| MCF7 | 14.2 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103Cys) | Missense | Rare | Impaired XPC binding; reduced NER activity |
| c.421G>A (p.Glu141Lys) | Missense | Rare | Altered calcium binding; centrosome duplication defects |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; severe XP phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair XPC interaction and NER, leading to XP phenotype.
Gain of Function (GOF)
Not reported; no activating mutations known.
Dominant Negative (DN)
Heterozygous missense variants may disrupt centrosome duplication in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • calcium ion binding (GO:0005509) |
| • centrosome (GO:0005813) | • DNA repair (GO:0006281) |
| • centrosome cycle (GO:0007098) | • ciliary basal body (GO:0036064) |
Pathways
• Nucleotide Excision Repair (hsa03420)
• Centrosome duplication (hsa04110)
• Ciliogenesis (hsa04530)
Protein Summary
Centrin-2 is a 172-amino-acid calcium-binding protein localized to centrosomes and ciliary basal bodies. It forms a complex with XPC and RAD23B to initiate global genome NER. The protein contains four EF-hand motifs and undergoes calcium-dependent conformational changes. CETN2 is essential for centrosome duplication and ciliary assembly, and its dysfunction is linked to DNA repair disorders and ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CETN2 Knockout HEK293 Cell Line | EDJ-KQ4256 | Human | 1069 | Details Get a Quote |
| CETN2 Knockout HeLa Cell Line | EDJ-KQ25427 | Human | 1069 | Details Get a Quote |
| CETN2 Knockout A-549 Cell Line | EDJ-KQ26735 | Human | 1069 | Details Get a Quote |
| CETN2 Knockout HCT 116 Cell Line | EDJ-KQ26736 | Human | 1069 | Details Get a Quote |
