CEP76
Chr 18centrosomal protein 76
Also known as: C18orf9, HsT1705
This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Clinical Summary— CEP76
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint
0.76LOEUF
pLI 0.000
Z-score 2.75
OE 0.52 (0.37–0.76)
Typical tolerance to LoF variation
Missense Constraint
1.75Z-score
OE missense 0.74 (0.67–0.82)
265 obs / 357.9 exp
Mild missense constraint
Observed / Expected Ratios
LoF OE0.52 (0.37–0.76)
0≤0.351.4
Missense OE0.74 (0.67–0.82)
0≤0.61.4
Synonymous OE0.85
0≤1.21.6
LoF obs/exp: 20 / 38.4Missense obs/exp: 265 / 357.9Syn Z: 1.31
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CEP76 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Open Research Assistant →Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Evaluating the association between placenta DNA methylation and cognitive functions in the offspring.
Diez-Ahijado L et al.·Transl Psychiatry
2024
Identification and classification of papain-like cysteine proteinases
Ozhelvaci F et al.·J Biol Chem
2023
Experimental and Natural Induction of de novo Centriole Formation
Takumi K et al.·Front Cell Dev Biol
2022
Implications of Possible HBV-Driven Regulation of Gene Expression in Stem Cell-like Subpopulation of Huh-7 Hepatocellular Carcinoma Cell Line
Demir AB et al.·J Pers Med
2022
Aberrant lncRNA expression in patients with proliferative diabetic retinopathy: preliminary results from a single-center observational study
Zeng L et al.·BMC Ophthalmol
2023Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
Khan K et al.·Sci Adv
2025Open Access
Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition.
Houston BJ et al.·Life Sci Alliance
2024Open Access
The centriole protein CEP76 negatively regulates PLK1 activity in the cytoplasm for proper mitotic progression.
Takeda Y et al.·J Cell Sci
2020
Opposing post-translational modifications regulate Cep76 function to suppress centriole amplification.
Barbelanne M et al.·Oncogene
2016Open Access
Cep76, a centrosomal protein that specifically restrains centriole reduplication.
Tsang WY et al.·Dev Cell
2009
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools