HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CNTLN
centlein
Chromosome 9 · 9p22.2
NCBI Gene: 54875Ensembl: ENSG00000044459.16HGNC: HGNC:23432UniProt: B1AMC8
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase bindingprotein domain specific bindingprotein-macromolecule adaptor activitycentriole-centriole cohesionmajor depressive disordersmoking initiationadolescent idiopathic scoliosisalcohol drinking
✦AI Summary

CNTLN (centlein) is a centrosomal protein required for maintaining centrosome cohesion and proper centrosome function. Structurally, CNTLN localizes to the proximal ends of centrioles where it acts as a molecular linker, directly interacting with both C-Nap1 and Cep68 to form a centrosome cohesion complex 1. Depletion of CNTLN impairs Cep68 recruitment to centrosomes and causes centrosome splitting, demonstrating its essential role in centrosome architecture 1. CNTLN is phosphorylated by Nek2A kinase, suggesting regulatory control of centrosome cohesion during the cell cycle 1. Beyond centrosome function, CNTLN variants show associations with multiple phenotypes. A genome-wide association study identified CNTLN variants (rs10511632) associated with facial morphology, specifically nasal width in a Korean population 2. In cardiovascular studies, rs894379 in CNTLN was associated with increased left ventricular mass in hypertensive individuals 3. Additionally, CNTLN appeared in analyses of gestational age associations and Alzheimer's disease resilience 45, though the mechanistic links between centrosome function and these systemic outcomes remain unclear. CNTLN deletions show marginal association with psychosis in Alzheimer's disease patients 6. These diverse associations suggest CNTLN may have functions beyond centrosome cohesion or that centrosome dysfunction affects broader physiological processes.

Sources cited
1
CNTLN localizes to proximal centriole ends, directly interacts with C-Nap1 and Cep68, maintains centrosome cohesion, and is a Nek2A substrate
PMID: 24554434
2
CNTLN variant rs10511632 is significantly associated with facial morphology (nasion to right alare distance) in genome-wide association study
PMID: 39640822
3
CNTLN intronic SNP rs894379 is associated with increased left ventricular mass in hypertensive individuals
PMID: 22940680
4
CNTLN appears among genes mapped to gestational age-associated genomic loci in ultra-low-coverage GWAS
PMID: 36788602
5
CNTLN predicted gene expression in coronary artery interacts with amyloid deposition on episodic memory performance in Alzheimer's disease
PMID: 27743375
6
CNTLN deletion shows marginal association with psychosis in Alzheimer's disease patients
PMID: 26035058
Disease Associationsⓘ20
major depressive disorderOpen Targets
0.48Moderate
smoking initiationOpen Targets
0.37Weak
adolescent idiopathic scoliosisOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.33Weak
hemolytic anemiaOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.32Weak
ovarian cancerOpen Targets
0.31Weak
pleural empyemaOpen Targets
0.30Weak
pneumothoraxOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
anorexia nervosaOpen Targets
0.28Weak
Back painOpen Targets
0.27Weak
liver diseaseOpen Targets
0.27Weak
secondary malignant neoplasmOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.26Weak
osteoarthritisOpen Targets
0.24Weak
skin agingOpen Targets
0.23Weak
substance-related disorderOpen Targets
0.21Weak
insomniaOpen Targets
0.21Weak
HypercholesterolemiaOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCDC102BShared pathway100%CEP170Protein interaction97%LRRC45Protein interaction92%CEP152Protein interaction89%CEP290Protein interaction83%SASS6Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
66%
Ovary
60%
Brain
31%
Heart
20%
Lung
19%
Gene Interaction Network
Click a node to explore
CNTLNCCDC102BCEP170LRRC45CEP152CEP290SASS6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NXG0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.24 [1.07–1.43]
RankingsWhere CNTLN stands among ~20K protein-coding genes
  • #11,131of 20,598
    Most Researched34
  • #14,716of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedCNTLN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
High heritability of human facial traits reveals associations with
PMID: 39640822
Heliyon · 2024
1.00
2
Ultra-low-coverage genome-wide association study-insights into gestational age using 17,844 embryo samples with preimplantation genetic testing.
PMID: 36788602
Genome Med · 2023
0.90
3
Genetic resilience to amyloid related cognitive decline.
PMID: 27743375
Brain Imaging Behav · 2017
0.80
4
Genome-wide copy-number variation study of psychosis in Alzheimer's disease.
PMID: 26035058
Transl Psychiatry · 2015
0.70
5
Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion.
PMID: 24554434
J Cell Sci · 2014
0.60