CEP68: Centrosomal Protein 68
A key regulator of centrosome cohesion and ciliogenesis, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | CEP68 |
|---|---|
| Full Name | Centrosomal Protein 68 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p14 |
| NCBI Gene ID | 23177 ncbi.nlm.nih.gov/gene/23177 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9H8H3 |
| OMIM ID | 616889 |
| HGNC ID | 29076 |
| Aliases | CEP68, HsT17482, FLJ10404 |
Description
CEP68 encodes a centrosomal protein that localizes to the centrosome throughout the cell cycle. It is essential for maintaining centrosome cohesion by tethering the two centrioles together during interphase. CEP68 is also involved in primary cilium assembly and cell cycle progression. Loss of CEP68 leads to centrosome splitting and impaired ciliogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CEP68 overexpression correlates with centrosome amplification and aneuploidy; potential oncogenic role. | PMID: 23541953 |
| Microcephaly | Biallelic loss-of-function mutations in CEP68 cause primary microcephaly with intellectual disability due to defective centrosome function. | PMID: 28886341 |
| Ciliopathies | CEP68 depletion disrupts primary cilium formation, linking it to cilia-related disorders. | PMID: 23541953 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HEK293 | 10.3 | Embryonic kidney cells |
| MCF7 | 9.8 | Breast cancer cell line |
| U2OS | 11.1 | Osteosarcoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1234G>A (p.Gly412Arg) | Missense | Unknown | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg57*, p.Arg348*) lead to truncated protein and loss of centrosomal function, causing microcephaly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Centrosome maturation and cohesion
• Primary cilium assembly
• Cell cycle
• G2/M transition
Protein Summary
CEP68 is a 68 kDa centrosomal protein that contains a coiled-coil domain and localizes to the centrosome throughout the cell cycle. It interacts with CEP215 and other centrosomal components to maintain centriole cohesion. CEP68 is required for proper spindle pole formation and primary cilium assembly. Its expression is cell cycle-regulated, peaking in G2 phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP68 Knockout HEK293 Cell Line | EDJ-KQ7866 | Human | 23177 | Details Get a Quote |
| CEP68 Knockout HCT 116 Cell Line | EDJ-KQ32116 | Human | 23177 | Details Get a Quote |
| CEP68 Knockout A-549 Cell Line | EDJ-KQ33441 | Human | 23177 | Details Get a Quote |
| CEP68 Knockout HeLa Cell Line | EDJ-KQ33442 | Human | 23177 | Details Get a Quote |
