CEP72 (Centrosomal Protein 72): A Key Regulator of Centrosome Function and Microtubule Dynamics
Explore the genomic architecture, expression patterns, disease associations, and mutational landscape of CEP72, a centrosomal protein implicated in neurodevelopmental disorders and cancer susceptibility.
Gene Information Card
| Symbol | CEP72 |
|---|---|
| Full Name | Centrosomal protein 72 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 55722 ncbi.nlm.nih.gov/gene/55722 |
| Ensembl ID | ENSG00000112837 |
| UniProt ID | Q9P209 |
| OMIM ID | 616844 |
| HGNC ID | 25594 |
| Aliases | KIAA1543, FLJ10468 |
Description
CEP72 encodes a centrosomal protein that localizes to the centrosome and is essential for proper microtubule organization and mitotic spindle assembly. It interacts with other centrosomal components and is involved in cell cycle progression. CEP72 has been implicated in neurodevelopmental disorders and cancer susceptibility, particularly in the context of chemotherapy response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly | CEP72 mutations may disrupt centrosome function, leading to impaired neurogenesis and reduced brain size. | ClinVar: Pathogenic variants reported in patients with primary microcephaly. |
| Acute lymphoblastic leukemia (ALL) | CEP72 polymorphisms (e.g., rs924607) are associated with increased risk of vincristine-induced peripheral neuropathy, affecting treatment outcomes. | ClinVar: Risk allele identified in pharmacogenomic studies. |
| Colorectal cancer | CEP72 expression is altered in tumor tissues, potentially affecting centrosome amplification and chromosomal instability. | COSMIC: Somatic mutations and copy number alterations observed in colorectal cancer samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression; used in centrosome studies. |
| K562 | 9.7 | Moderate expression; leukemia cell line. |
| A549 | 7.4 | Moderate expression; lung carcinoma. |
| MCF7 | 5.2 | Low expression; breast cancer. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs924607 (T>C) | SNP (intronic) | ~30% allele frequency in European populations | Associated with increased risk of vincristine-induced neuropathy in ALL patients. |
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Predicted to cause loss of function; reported in microcephaly patients. |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; likely pathogenic. |
| c.890A>G (p.Gln297Arg) | Missense | Rare | Uncertain significance; may affect protein stability. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing centrosome function and causing microcephaly.
Gain of Function (GOF)
No evidence of gain-of-function mutations; CEP72 is not known to act as an oncogene.
Dominant Negative (DN)
No evidence of dominant-negative effects; CEP72 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • microtubule organizing center |
| • protein binding | • cell cycle |
| • mitotic spindle organization |
Pathways
• Centrosome maturation and duplication
• Microtubule cytoskeleton organization
• Cell cycle (mitotic)
Protein Summary
CEP72 is a 72 kDa centrosomal protein that plays a critical role in the recruitment of γ-tubulin to the centrosome, thereby facilitating microtubule nucleation. It is essential for mitotic spindle assembly and genomic stability. CEP72 deficiency leads to centrosome fragmentation and mitotic errors, contributing to neurodevelopmental defects and cancer susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP72 Knockout HEK293 Cell Line | EDJ-KQ3638 | Human | 55722 | Details Get a Quote |
| CEP72 Knockout A-549 Cell Line | EDJ-KQ25585 | Human | 55722 | Details Get a Quote |
| CEP72 Knockout HCT 116 Cell Line | EDJ-KQ25586 | Human | 55722 | Details Get a Quote |
| CEP72 Knockout HeLa Cell Line | EDJ-KQ25587 | Human | 55722 | Details Get a Quote |
