CEP83: Centrosomal Protein 83
Key regulator of primary cilium assembly and centrosome duplication
Gene Information Card
| Symbol | CEP83 |
|---|---|
| Full Name | Centrosomal Protein 83 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 22884 ncbi.nlm.nih.gov/gene/22884 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9Y5Z0 |
| OMIM ID | 615847 |
| HGNC ID | 26019 |
| Aliases | CCDC41, NPHP18, SCD2 |
Description
CEP83 (Centrosomal Protein 83) encodes a protein that localizes to the centrosome and is essential for primary cilium assembly. It is a component of the distal appendage of the mother centriole and is required for docking of vesicles to the ciliary membrane. Mutations in CEP83 cause nephronophthisis 18, a renal ciliopathy characterized by cystic kidney disease and progressive renal failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 18 | Loss-of-function mutations impair primary cilium assembly, leading to renal tubular defects and cyst formation | OMIM #615862; ClinVar |
| Joubert syndrome (related) | Disruption of ciliary signaling pathways due to defective CEP83 | OMIM #615847; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.5 | Medium |
| Testis | 12.3 | High |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| HepG2 | 5.3 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | Rare | Premature stop, loss of function |
| c.1468C>T (p.Arg490Trp) | Missense | Rare | Impaired ciliogenesis |
| c.1687delG (p.Glu563Lysfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of ciliary function, causing nephronophthisis.
Gain of Function (GOF)
Not reported for CEP83.
Dominant Negative (DN)
Not reported for CEP83.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • ciliary basal body (GO:0036064) |
| • cilium assembly (GO:0060271) | • cell projection (GO:0042995) |
| • protein binding (GO:0005515) |
Pathways
• Ciliopathy pathway (KEGG: hsa05016)
• Centrosome maturation and duplication
Protein Summary
CEP83 is a 728-amino acid centrosomal protein that localizes to the distal appendages of the mother centriole. It is essential for the docking of ciliary vesicles and the initiation of primary cilium assembly. The protein contains coiled-coil domains and interacts with other ciliary proteins such as CEP164 and Rab8. Loss of CEP83 function disrupts ciliogenesis and leads to renal ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP83 Knockout HEK293 Cell Line | EDJ-KQ10938 | Human | 51134 | Details Get a Quote |
| CEP83 Knockout A-549 Cell Line | EDJ-KQ38725 | Human | 51134 | Details Get a Quote |
| CEP83 Knockout HCT 116 Cell Line | EDJ-KQ38726 | Human | 51134 | Details Get a Quote |
| CEP83 Knockout HeLa Cell Line | EDJ-KQ38727 | Human | 51134 | Details Get a Quote |
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