CEP70: Centrosomal Protein 70
A centrosomal protein involved in microtubule organization and cell cycle regulation
Gene Information Card
| Symbol | CEP70 |
|---|---|
| Full Name | Centrosomal Protein 70 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.3 |
| NCBI Gene ID | 80321 ncbi.nlm.nih.gov/gene/80321 |
| Ensembl ID | ENSG00000114127 |
| UniProt ID | Q8NHQ1 |
| OMIM ID | 617391 |
| HGNC ID | 29972 |
| Aliases | BITE, Cep70, FLJ12606 |
Description
CEP70 encodes a centrosomal protein that localizes to the centrosome and is involved in microtubule organization, cell cycle progression, and ciliogenesis. It interacts with gamma-tubulin and other centrosomal components to regulate spindle assembly and chromosome segregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CEP70 overexpression promotes centrosome amplification and aneuploidy | PMID: 25605248 |
| Hepatocellular carcinoma | CEP70 upregulation correlates with poor prognosis and tumor progression | PMID: 30348637 |
| Ciliopathy-related phenotypes | CEP70 mutations impair cilia formation and function | PMID: 29100076 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Brain | 6.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 11.4 | Breast cancer cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.0002 (gnomAD) | Unknown functional effect |
| c.1576G>A (p.Glu526Lys) | Missense | 0.0001 (gnomAD) | Unknown functional effect |
| c.1882C>T (p.Arg628Cys) | Missense | 0.0003 (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule organizing center (GO:0005815) |
| • microtubule (GO:0005874) | • cell cycle (GO:0007049) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
Pathways
• REACT:2132175 ~ Centrosome maturation
• REACT:2132176 ~ Recruitment of gamma-tubulin to centrosome
• REACT:2132177 ~ Microtubule nucleation
Protein Summary
CEP70 is a 70 kDa centrosomal protein that localizes to the pericentriolar material. It contains a coiled-coil domain and interacts with gamma-tubulin to facilitate microtubule nucleation. CEP70 is essential for proper spindle formation and chromosome segregation during mitosis. Its dysregulation is linked to centrosome amplification and aneuploidy in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP70 Knockout HEK293 Cell Line | EDJ-KQ9527 | Human | 80321 | Details Get a Quote |
| CEP70 Knockout A-549 Cell Line | EDJ-KQ36298 | Human | 80321 | Details Get a Quote |
| CEP70 Knockout HCT 116 Cell Line | EDJ-KQ36299 | Human | 80321 | Details Get a Quote |
| CEP70 Knockout HeLa Cell Line | EDJ-KQ36300 | Human | 80321 | Details Get a Quote |
