CEP162
Centrosomal Protein 162: A Key Regulator of Ciliogenesis and Microtubule Organization
Gene Information Card
| Symbol | CEP162 |
|---|---|
| Full Name | Centrosomal Protein 162 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 387103 ncbi.nlm.nih.gov/gene/387103 |
| Ensembl ID | ENSG00000196352 |
| UniProt ID | Q5TB80 |
| OMIM ID | 614260 |
| HGNC ID | 26108 |
| Aliases | C6orf70, bA397G5.3, MGC35130 |
Description
CEP162 encodes a centrosomal protein that localizes to the distal end of centrioles and is essential for ciliogenesis. It mediates the docking of intraflagellar transport (IFT) particles to the ciliary base and promotes microtubule organization. CEP162 interacts with CEP290 and other ciliary proteins to regulate primary cilium formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | CEP162 mutations disrupt ciliogenesis, leading to cerebellar and retinal defects | OMIM #614260; PMID: 23542699 |
| Nephronophthisis | Defective ciliary signaling due to CEP162 loss impairs renal tubule development | ClinVar; PMID: 23542699 |
| Retinitis pigmentosa | CEP162 variants cause photoreceptor cilia dysfunction, leading to retinal degeneration | ClinVar; PMID: 23542699 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.2 | Ciliated epithelial cell line |
| HeLa | 8.9 | Cervical cancer cell line |
| HEK293 | 6.4 | Embryonic kidney cell line |
| U2OS | 5.1 | Osteosarcoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2173C>T (p.Arg725*) | Nonsense | <0.01% | Premature truncation, loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Impaired ciliary localization |
| c.2890_2891del (p.Leu964fs) | Frameshift | <0.01% | Loss of C-terminal domain, disrupted IFT binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to loss of CEP162 protein and defective ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may interfere with wild-type CEP162 function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • cilium |
| • microtubule organizing center | • protein binding |
| • cell projection organization | • ciliary basal body |
Pathways
• Ciliogenesis
• Intraflagellar transport
• Centrosome cycle
Protein Summary
CEP162 is a 162 kDa centrosomal protein that localizes to the distal end of centrioles. It contains a coiled-coil domain and interacts with CEP290 and IFT proteins to facilitate the assembly of primary cilia. CEP162 is essential for microtubule anchoring and the initiation of ciliogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP162 Knockout HEK293 Cell Line | EDJ-KQ7682 | Human | 22832 | Details Get a Quote |
| CEP162 Knockout A-549 Cell Line | EDJ-KQ33038 | Human | 22832 | Details Get a Quote |
| CEP162 Knockout HCT 116 Cell Line | EDJ-KQ33039 | Human | 22832 | Details Get a Quote |
| CEP162 Knockout HeLa Cell Line | EDJ-KQ33040 | Human | 22832 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
