CEP295
Centrosomal Protein 295
Gene Information Card
| Symbol | CEP295 |
|---|---|
| Full Name | centrosomal protein 295 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 80184 ncbi.nlm.nih.gov/gene/80184 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9H7R0 |
| OMIM ID | 617488 |
| HGNC ID | 29382 |
| Aliases | KIAA1731, C11orf80 |
Description
CEP295 encodes a centrosomal protein involved in centriole duplication and centrosome maturation. It localizes to the proximal end of centrioles and is essential for the assembly of the centrosomal protein complex required for mitotic spindle organization. Mutations in CEP295 are associated with autosomal recessive primary microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 25 (MCPH25) | Loss-of-function mutations impair centriole duplication, reducing neural progenitor cell proliferation | OMIM #617488; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | RNA-seq from GTEx |
| K562 | 7.8 | RNA-seq from GTEx |
| HEK293 | 9.5 | RNA-seq from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.304C>T (p.Arg102*) | Nonsense | Rare | Loss-of-function; associated with microcephaly |
| c.1234delG (p.Glu412Lysfs*5) | Frameshift | Rare | Loss-of-function; associated with microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause truncated protein, impairing centriole duplication and leading to microcephaly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • centriole |
| • microtubule organizing center | • protein binding |
| • cell division | • mitotic spindle organization |
Pathways
• Centrosome maturation
• Centriole duplication
Protein Summary
CEP295 is a 295 kDa centrosomal protein that localizes to the proximal end of centrioles. It is required for the recruitment of other centrosomal components during centriole duplication and for proper mitotic spindle formation. Loss of function leads to reduced brain size (microcephaly).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP295 Knockout HEK293 Cell Line | EDJ-KQ10370 | Human | 85459 | Details Get a Quote |
| CEP295NL Knockout HEK293 Cell Line | EDJ-KQ12873 | Human | 100653515 | Details Get a Quote |
| CEP295 Knockout HeLa Cell Line | EDJ-KQ36439 | Human | 85459 | Details Get a Quote |
| CEP295 Knockout A-549 Cell Line | EDJ-KQ37706 | Human | 85459 | Details Get a Quote |
| CEP295 Knockout HCT 116 Cell Line | EDJ-KQ37707 | Human | 85459 | Details Get a Quote |
| CEP295NL Knockout HeLa Cell Line | EDJ-KQ60981 | Human | 100653515 | Details Get a Quote |
| CEP295NL Knockout A-549 Cell Line | EDJ-KQ69456 | Human | 100653515 | Details Get a Quote |
| CEP295NL Knockout HCT 116 Cell Line | EDJ-KQ77807 | Human | 100653515 | Details Get a Quote |
