CEP63: Centrosomal Protein 63
A key regulator of centrosome duplication and genomic stability, implicated in microcephaly and cancer.
Gene Information Card
| Symbol | CEP63 |
|---|---|
| Full Name | Centrosomal Protein 63 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.2 |
| NCBI Gene ID | 80254 ncbi.nlm.nih.gov/gene/80254 |
| Ensembl ID | ENSG00000182923 |
| UniProt ID | Q96MT8 |
| OMIM ID | 614724 |
| HGNC ID | 25882 |
| Aliases | MCPH6, CEP63, centrosomal protein 63kDa |
Description
CEP63 encodes a centrosomal protein that localizes to the centrosome and is essential for proper centrosome duplication. It forms a complex with CEP152 and CDK2 to regulate centriole duplication. Mutations in CEP63 cause autosomal recessive primary microcephaly type 6 (MCPH6), characterized by reduced brain size and intellectual disability. The protein also plays a role in maintaining genomic stability, and its dysregulation is linked to cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 6 (MCPH6) | Loss-of-function mutations in CEP63 disrupt centrosome duplication, leading to reduced neural progenitor cell proliferation and decreased brain size. | OMIM #614724; PMID: 20835237 |
| Cancer (various) | CEP63 overexpression or amplification may promote centrosome amplification and aneuploidy, contributing to tumorigenesis. | COSMIC; PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Bone marrow | 6.1 | Low |
| Lymph node | 5.8 | Low |
| Ovary | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK 293 | 12.1 | Embryonic kidney cells |
| K562 | 8.7 | Leukemia cell line |
| MCF7 | 7.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.244C>T (p.Arg82*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg82*, p.Arg226*, p.Arg349*) cause premature termination, leading to loss of centrosomal localization and impaired centrosome duplication, resulting in primary microcephaly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • centriole replication |
| • cell cycle | • mitotic spindle organization |
| • protein binding |
Pathways
• Centrosome duplication
• Cell cycle
• mitotic
Protein Summary
CEP63 is a 63 kDa centrosomal protein that localizes to the centrosome throughout the cell cycle. It interacts with CEP152 and CDK2 to regulate centriole duplication. The protein contains a coiled-coil domain and is essential for proper mitotic spindle formation and genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP63 Knockout HEK293 Cell Line | EDJ-KQ9512 | Human | 80254 | Details Get a Quote |
| CEP63 Knockout A-549 Cell Line | EDJ-KQ36263 | Human | 80254 | Details Get a Quote |
| CEP63 Knockout HCT 116 Cell Line | EDJ-KQ36264 | Human | 80254 | Details Get a Quote |
| CEP63 Knockout HeLa Cell Line | EDJ-KQ36265 | Human | 80254 | Details Get a Quote |
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