CEP97
Centrosomal Protein 97
Gene Information Card
| Symbol | CEP97 |
|---|---|
| Full Name | Centrosomal Protein 97 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q12.3 |
| NCBI Gene ID | 79598 ncbi.nlm.nih.gov/gene/79598 |
| Ensembl ID | ENSG00000182504 |
| UniProt ID | Q8IW35 |
| OMIM ID | 615848 |
| HGNC ID | 26023 |
| Aliases | LRRIQ2, FLJ12529 |
Description
CEP97 encodes a centrosomal protein that localizes to the centrosome and is essential for primary cilium assembly. It interacts with CCP110 to suppress ciliogenesis in cycling cells, and its loss leads to aberrant cilia formation. The protein is involved in cell cycle regulation and centrosome duplication.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Loss-of-function mutations impair centrosome function and neurogenesis | PMID: 27545674 |
| Ciliopathy-related disorders | Disruption of CEP97 leads to defective ciliogenesis and Hedgehog signaling | PMID: 23652000 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| U2OS | 7.5 | Osteosarcoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Premature truncation, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired centrosomal localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of cilia regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome | • Cilium assembly |
| • Cell cycle | • Microtubule organizing center |
| • Protein binding |
Pathways
• Ciliogenesis
• Centrosome cycle
• Hedgehog signaling
Protein Summary
CEP97 is a 97 kDa centrosomal protein that forms a complex with CCP110 to suppress cilia formation in proliferating cells. It contains coiled-coil domains and localizes to the distal appendages of centrioles. Upon cell cycle exit, CEP97 is removed to allow ciliogenesis. Mutations in CEP97 are associated with primary microcephaly and ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
