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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CEP126
centrosomal protein 126
Chromosome 11 · 11q22.1
NCBI Gene: 57562Ensembl: ENSG00000110318.16HGNC: HGNC:29264UniProt: Q9P2H0
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ciliary basemitotic spindle organizationcytoplasmic microtubule organizationcilium assemblyovarian dysfunctioncolorectal adenomacolorectal cancerAbnormality of the skeletal system
✦AI Summary

CEP126 (centrosomal protein 126) is a centrosomal regulator essential for multiple cellular processes. Functionally, CEP126 localizes to the centrosome, pericentriolar satellites, and the ciliary base 1. The protein acts as a regulator of microtubule organization by modulating pericentriolar satellite transport, which in turn organizes cell structure 1. CEP126 is necessary for proper microtubule and mitotic spindle organization, and participates in cytokinesis. CEP126 depletion disrupts radial microtubule organization and impairs primary cilium formation in multiple cell lines 1. Diseases of interest include cancers, where CEP126 expression shows prognostic relevance. In head and neck squamous cell carcinoma (HNSCC), CEP126 was identified as a key gene in protein-protein interaction networks associated with cancer progression, appearing as a downregulated gene in higher-grade tumors 2. In breast cancer, CEP126 expression was progressively downregulated from grade I to III tumors, suggesting association with tumor progression and clinical outcomes 3. Additionally, a novel MAML2::CEP126 fusion was identified in an unusual high-grade mucoepidermoid carcinoma case, expanding the spectrum of MAML2 rearrangements in salivary gland tumors 4. Clinically, CEP126 may serve as a prognostic biomarker for cancer grading and patient outcomes, though direct therapeutic applications remain to be established.

Sources cited
1
CEP126 localizes to centrosome, pericentriolar satellites, and ciliary base; required for pericentriolar satellite organization, microtubule organization, mitotic spindle organization, and primary cilium formation
PMID: 24867236
2
CEP126 identified as a key gene in protein-protein interaction networks in head and neck squamous cell carcinoma associated with cancer progression
PMID: 37716425
3
CEP126 is progressively downregulated from grade I to III breast cancers and associated with tumor progression and recurrence-free survival
PMID: 35020130
4
Novel MAML2::CEP126 fusion identified in high-grade mucoepidermoid carcinoma, expanding spectrum of MAML2 rearrangements
PMID: 36208053
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
ovarian dysfunctionOpen Targets
0.30Weak
colorectal adenomaOpen Targets
0.21Weak
colorectal cancerOpen Targets
0.21Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.09Suggestive
ovarian neoplasmOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.06Suggestive
MODYOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
spermatogenic failure 61Open Targets
0.04Suggestive
spermatogenic failure 62Open Targets
0.04Suggestive
spermatogenic failure 88Open Targets
0.04Suggestive
spermatogenic failure 59Open Targets
0.04Suggestive
spermatogenic failure 60Open Targets
0.04Suggestive
spermatogenic failure 73Open Targets
0.04Suggestive
spermatogenic failure 74Open Targets
0.04Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.04Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.04Suggestive
spermatogenic failure 72Open Targets
0.04Suggestive
spermatogenic failure 48Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D32Shared pathway40%C2CD3Shared pathway40%ARL13BShared pathway33%TMEM17Shared pathway33%CCDC13Shared pathway33%TMEM107Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Heart
34%
Brain
32%
Lung
26%
Bone Marrow
19%
Liver
4%
Gene Interaction Network
Click a node to explore
CEP126TBC1D32C2CD3ARL13BTMEM17CCDC13TMEM107
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P2H0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.44–0.73]
RankingsWhere CEP126 stands among ~20K protein-coding genes
  • #12,751of 20,598
    Most Researched26
  • #5,699of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedCEP126
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Mucoepidermoid carcinoma may be devoid of squamoid cells by immunohistochemistry: expanding the histologic and immunohistochemical spectrum of MAML2- rearranged salivary gland tumours.
PMID: 36208053
Histopathology · 2023
1.00
2
Identification of key tumor stroma-associated transcriptional signatures correlated with survival prognosis and tumor progression in breast cancer.
PMID: 35020130
Breast Cancer · 2022
0.86
3
DKK3 expression is correlated with poorer prognosis in head and neck squamous cell carcinoma: A bioinformatics study based on the TCGA database.
PMID: 37716425
J Oral Biosci · 2023
0.71
4
Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation.
PMID: 24867236
Biol Cell · 2014
0.57
5
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.
PMID: 22264561
Neuromuscul Disord · 2012
0.43