CEP104 Gene - Centrosomal Protein 104
Genetic, structural, and clinical insights into CEP104, a centrosomal protein implicated in ciliary function and Joubert syndrome.
Gene Information Card
| Symbol | CEP104 |
|---|---|
| Full Name | centrosomal protein 104 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 9731 ncbi.nlm.nih.gov/gene/9731 |
| Ensembl ID | ENSG00000116132 |
| UniProt ID | Q6P2E0 |
| OMIM ID | 616690 |
| HGNC ID | 24866 |
| Aliases | FLJ10597, KIAA0562, MGC131851 |
Description
CEP104 encodes a centrosomal protein that localizes to the distal end of centrioles and is involved in ciliogenesis and microtubule dynamics. It interacts with CEP97 and CP110, playing a critical role in the formation and function of primary cilia. Mutations in CEP104 are associated with Joubert syndrome, a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and other features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss-of-function mutations impair ciliogenesis, leading to defective primary cilia signaling. | ClinVar, OMIM |
| Ciliary dyskinesia | Potential involvement due to ciliary dysfunction, though direct evidence is limited. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Brain | 8.2 | Low |
| Kidney | 6.5 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical carcinoma; high expression |
| A549 | 10.2 | Lung carcinoma; moderate |
| HepG2 | 7.8 | Liver cancer; moderate |
| K562 | 5.1 | Leukemia; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Ter) | Nonsense | Rare | Loss of function; associated with Joubert syndrome |
| c.1543A>G (p.Thr515Ala) | Missense | Unknown | Potential functional impact; reported in ciliopathy patients |
| c.2200delA (p.Ile734SerfsTer12) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, impairing ciliogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; CEP104 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • cilium assembly |
| • microtubule binding | • protein binding |
Pathways
• Cilium assembly
• Centrosome cycle
Protein Summary
CEP104 is a 104 kDa protein containing a C-terminal coiled-coil domain and a conserved N-terminal region. It localizes to the distal appendages of centrioles and interacts with CP110 and CEP97 to regulate cilia formation. It is essential for the removal of CP110 from the mother centriole during ciliogenesis. Defects in this protein lead to ciliary dysfunction and Joubert syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP104 Knockout HEK293 Cell Line | EDJ-KQ6718 | Human | 9731 | Details Get a Quote |
| CEP104 Knockout A-549 Cell Line | EDJ-KQ31094 | Human | 9731 | Details Get a Quote |
| CEP104 Knockout HCT 116 Cell Line | EDJ-KQ31095 | Human | 9731 | Details Get a Quote |
| CEP104 Knockout HeLa Cell Line | EDJ-KQ31096 | Human | 9731 | Details Get a Quote |
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