CEP78

Chr 9q21.2

centrosomal protein 78

Aliases:: FLJ12643
MANE:: ENST00000643273.2

OMIM: 617110 ↗NCBI: 84131 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CEP78 · Q5JTW2

v62025-08-01

Predicted Aligned Error matrix for CEP78 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.0/ 100

Low

689 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)23%
Low(50–70)10%
Very low(< 50)38%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cone-rod dystrophy and hearing loss
0.78
Cone rod dystrophy
0.73
Retinal dystrophy
0.53
cone-rod dystrophy
0.49
Sensorineural hearing impairment
0.42
Usher syndrome type 3
0.38
Cerebral degeneration
0.30
central nervous system cancer
0.29
Moyamoya disease
0.26
hereditary disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Centrosomal protein of 78 kDa

Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome duplication: required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). Involved in cilium biogenesis and controls cilium length (PubMed:27588451). Acts as a regulator of protein stability by preventing ubiquitination of centrosomal proteins, such as CCP110 and tektins (PubMed:28242748, PubMed:34259627). Associates with the EDVP complex, preventing ubiquitination and degradation of CCP110 (PubMed:28242748, PubMed:34259627). Promotes deubiquitination of tektin proteins (TEKT1, TEKT2, TEK3, TEKT4 and TEKT5) via its interaction with USP16 (By similarity)