CEP78: Centrosomal Protein 78
A key regulator of ciliogenesis and centrosome duplication, associated with retinal degeneration and spermatogenic failure.
Gene Information Card
| Symbol | CEP78 |
|---|---|
| Full Name | Centrosomal Protein 78 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.2 |
| NCBI Gene ID | 84131 ncbi.nlm.nih.gov/gene/84131 |
| Ensembl ID | ENSG00000148019 |
| UniProt ID | Q5T0N5 |
| OMIM ID | 617205 |
| HGNC ID | 25738 |
| Aliases | C9orf81, IP63, RP66, CORDD6 |
Description
CEP78 encodes a centrosomal protein essential for primary cilium assembly and centrosome duplication. It localizes to the centrosome and interacts with other ciliary proteins to regulate ciliogenesis. Mutations in CEP78 cause autosomal recessive cone-rod dystrophy (CORDD6) and retinitis pigmentosa with or without spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-rod dystrophy 6 (CORDD6) | Loss of CEP78 function disrupts ciliary transport in photoreceptors, leading to progressive degeneration of cones and rods. | OMIM #617205; ClinVar |
| Retinitis pigmentosa 66 (RP66) | Defective ciliogenesis due to CEP78 mutations causes photoreceptor cell death. | OMIM #617205; NCBI Gene |
| Spermatogenic failure 44 (SPGF44) | CEP78 dysfunction impairs flagellar assembly in sperm, resulting in asthenozoospermia and male infertility. | OMIM #619044; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Retina | 12.8 | Medium |
| Brain (cerebellum) | 8.5 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.3 | Ciliary expression |
| HeLa (cervical carcinoma) | 7.8 | Centrosomal localization |
| HEK293 (embryonic kidney) | 6.5 | Used in functional studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.499C>T (p.Arg167*) | Nonsense | Rare | Loss of function; truncation |
| c.1285C>T (p.Arg429Trp) | Missense | Rare | Impaired ciliogenesis |
| c.1699C>T (p.Arg567*) | Nonsense | Rare | Loss of function; associated with RP66 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or protein truncation, resulting in loss of centrosomal function and defective ciliogenesis.
Gain of Function (GOF)
Not reported for CEP78.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • ciliary basal body |
| • protein binding | • cell cycle |
| • cilium assembly | • centriole replication |
Pathways
• Ciliogenesis
• Centrosome cycle
Protein Summary
CEP78 is a 78 kDa centrosomal protein that localizes to the centriole and is required for primary cilium formation. It interacts with CEP83 and other distal appendage proteins to initiate ciliary vesicle docking. In photoreceptors, it supports outer segment maintenance; in sperm, it is essential for flagellar motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP78 Knockout HEK293 Cell Line | EDJ-KQ9991 | Human | 84131 | Details Get a Quote |
| CEP78 Knockout HCT 116 Cell Line | EDJ-KQ36939 | Human | 84131 | Details Get a Quote |
| CEP78 Knockout HeLa Cell Line | EDJ-KQ36940 | Human | 84131 | Details Get a Quote |
| CEP78 Knockout A-549 Cell Line | EDJ-KQ35734 | Human | 84131 | Details Get a Quote |
