CEP43 (Centrosomal Protein 43)
A centrosomal protein involved in ciliogenesis and associated with ciliopathies
Gene Information Card
| Symbol | CEP43 |
|---|---|
| Full Name | Centrosomal Protein 43 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 80279 ncbi.nlm.nih.gov/gene/80279 |
| Ensembl ID | ENSG00000112294 |
| UniProt ID | Q9H6R3 |
| OMIM ID | 614560 |
| HGNC ID | 28389 |
| Aliases | CDK5RAP2, MCPH3, CEP215 |
Description
CEP43 encodes a centrosomal protein that localizes to the centrosome and is essential for centrosome duplication and primary cilia formation. It interacts with CDK5RAP2 and other centrosomal components. Mutations in this gene are associated with autosomal recessive primary microcephaly and ciliopathy phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly (MCPH3) | Loss-of-function mutations impair centrosome duplication, leading to reduced neuronal progenitor proliferation | OMIM #604804 |
| Joubert syndrome | Disruption of ciliary function due to defective centrosomal protein | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 10.8 | Moderate expression |
| HepG2 | 5.2 | Low expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.400C>T (p.Arg134*) | Nonsense | Rare | Loss of function, associated with microcephaly |
| c.1234delG (p.Glu412fs) | Frameshift | Rare | Loss of function, associated with Joubert syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, loss of centrosomal localization, and impaired ciliogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • protein binding (GO:0005515) |
| • ciliary basal body (GO:0036064) | • Golgi apparatus (GO:0043001) |
| • centrosome cycle (GO:0007098) |
Pathways
• Centrosome duplication
• Ciliogenesis
• Cell cycle
Protein Summary
CEP43 is a 43 kDa centrosomal protein that localizes to the centrosome and is required for centrosome duplication and primary cilia formation. It interacts with CDK5RAP2 and other centrosomal components. Loss-of-function mutations cause primary microcephaly and ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP43 Knockout HEK293 Cell Line | EDJ-KQ51040 | Human | 11116 | Details Get a Quote |
| CEP43 Knockout HeLa Cell Line | EDJ-KQ55573 | Human | 11116 | Details Get a Quote |
| CEP43 Knockout A-549 Cell Line | EDJ-KQ64069 | Human | 11116 | Details Get a Quote |
| CEP43 Knockout HCT 116 Cell Line | EDJ-KQ72519 | Human | 11116 | Details Get a Quote |
