CEP20 (Centrosomal Protein 20)
A component of the centrosome involved in microtubule organization and cell division.
Gene Information Card
| Symbol | CEP20 |
|---|---|
| Full Name | Centrosomal Protein 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 123811 ncbi.nlm.nih.gov/gene/123811 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9Y6Q5 |
| OMIM ID | 609445 |
| HGNC ID | 24277 |
| Aliases | FOP, FGFR1OP, CEP20 |
Description
CEP20, also known as FOP (FGFR1 Oncogene Partner), is a centrosomal protein that localizes to the centrosome and is essential for microtubule organization and cell division. It interacts with other centrosomal components and is involved in primary cilium assembly. The gene is located on chromosome 16p13.3 and encodes a 20 kDa protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myeloid neoplasms with FGFR1 rearrangement | CEP20 (FOP) fuses with FGFR1 via t(6;8)(q27;p11) translocation, resulting in constitutive FGFR1 kinase activation and leukemogenesis. | PMID: 9817262; COSMIC |
| Acute myeloid leukemia | FOP-FGFR1 fusion drives aberrant signaling and proliferation. | PMID: 9817262; COSMIC |
| T-cell lymphoma | FOP-FGFR1 fusion reported in rare cases of T-cell lymphoblastic lymphoma. | PMID: 9817262; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 10.1 | Moderate expression |
| HeLa (cervical) | 7.5 | Low expression |
| HEK293 (embryonic kidney) | 6.8 | Low expression |
| A549 (lung) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| FOP-FGFR1 fusion | Gene fusion | Rare | Constitutive activation of FGFR1 kinase; oncogenic |
| Missense variants (e.g., p.Arg94Cys) | Missense | Unknown | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
FOP-FGFR1 fusion is a gain-of-function mutation leading to constitutive FGFR1 signaling.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • protein binding (GO:0005515) |
| • centriole (GO:0005814) | • microtubule organizing center (GO:0005815) |
| • ciliary basal body (GO:0036064) |
Pathways
• FGFR1 signaling pathway (via fusion)
• Centrosome cycle and microtubule organization
Protein Summary
CEP20 (FOP) is a 20 kDa centrosomal protein that localizes to the centriole and is required for microtubule anchoring and primary cilium formation. It interacts with other centrosomal proteins such as CEP250 and CEP110. The protein is ubiquitously expressed at low levels, with highest expression in testis. Pathogenic fusions with FGFR1 drive myeloid and lymphoid malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP20 Knockout HEK293 Cell Line | EDJ-KQ8295 | Human | 123811 | Details Get a Quote |
| CEP20 Knockout A-549 Cell Line | EDJ-KQ34258 | Human | 123811 | Details Get a Quote |
| CEP20 Knockout HCT 116 Cell Line | EDJ-KQ34259 | Human | 123811 | Details Get a Quote |
| CEP20 Knockout HeLa Cell Line | EDJ-KQ34260 | Human | 123811 | Details Get a Quote |
