CEP76

Chr 18p11.21

centrosomal protein 76

Aliases:: HsT1705, FLJ12542
MANE:: ENST00000262127.7

OMIM: 620791 ↗NCBI: 79959 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEP76 · Q8TAP6

v62025-08-01

Predicted Aligned Error matrix for CEP76 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.9/ 100

Confident

659 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)18%
Low(50–70)9%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.54
Joubert syndrome 1
0.48
Bardet-Biedl syndrome
0.46
Joubert syndrome
0.46
complex neurodevelopmental disorder
0.37
Bardet-Biedl syndrome 1
0.33
Short stature
0.30
ovarian dysfunction
0.26
ciliopathy
0.23
hypothyroidism
0.13

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

Protein function (UniProt)

Centrosomal protein of 76 kDa

Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication