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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CNTRL
centriolin
Chromosome 9 · 9q33.2
NCBI Gene: 11064Ensembl: ENSG00000119397.19HGNC: HGNC:1858UniProt: B2RP65
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcentrosomemembranecentriolar subdistal appendagecancermyelodysplastic syndromeacute lymphoblastic leukemialeukemia
✦AI Summary

CNTRL (centriolin) is a centrosomal protein primarily involved in cytokinesis and cell cycle progression. During late cytokinesis, CNTRL anchors exocyst and SNARE complexes at the midbody, facilitating secretory vesicle-mediated abscission and enabling cell division completion. The protein localizes to centriolar subdistal appendages and functions within the microtubule organizing center. CNTRL has clinical relevance in hematologic malignancies through its involvement in gene fusion events. CNTRL-FGFR1 fusion proteins generate constitutively active kinases that drive myeloproliferative neoplasms 1. These fusions abnormally activate signaling pathways controlling myeloid and lymphoid cell development and differentiation, leading to aggressive myeloid and lymphoid malignancies that progress to acute myeloid leukemia 2. The CNTRL-FGFR1-associated disease is resistant to standard chemotherapy, highlighting the clinical challenge of targeting this fusion event. Beyond hematologic cancers, CNTRL mutations have been identified in dedifferentiated liposarcoma, where CNTRL alterations are associated with worse overall survival 3. Additionally, CNTRL was identified as a switch gene involved in molecular pathways linked to loneliness and associated with neuropsychiatric and neurodegenerative diseases including depression 4. These findings suggest CNTRL functions extend beyond cytokinesis into cancer development and possibly neuropsychiatric disease pathways, making it a potential therapeutic target in malignancies harboring CNTRL fusions.

Sources cited
1
CNTRL-FGFR1 is a non-receptor-type FGFR kinase fusion found in myeloproliferative neoplasms
PMID: 27245147
2
CNTRL-FGFR1 fusion protein abnormally activates signaling pathways in myeloid and lymphoid cells, causing aggressive malignancies that progress to AML
PMID: 23777766
3
CNTRL mutations are associated with worse overall survival in dedifferentiated liposarcoma patients
PMID: 36464833
4
CNTRL is identified as a switch gene overlapping with known genetic variants in depression and associated with loneliness-related molecular changes
PMID: 36982982
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cancerOpen Targets
0.57Moderate
acute lymphoblastic leukemiaOpen Targets
0.42Moderate
myelodysplastic syndromeOpen Targets
0.42Moderate
leukemiaOpen Targets
0.37Weak
chronic myelogenous leukemiaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.30Weak
VertigoOpen Targets
0.28Weak
urticariaOpen Targets
0.22Weak
melanomaOpen Targets
0.20Weak
gliomaOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.19Weak
lymphoid neoplasmOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.18Weak
Hepatobiliary NeoplasmOpen Targets
0.18Weak
multiple myelomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NINProtein interaction98%DCTN1Protein interaction92%CEP250Protein interaction89%KIF2AProtein interaction88%ODF2Protein interaction88%PCNTProtein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
23%
Lung
19%
Liver
9%
Heart
8%
Brain
6%
Gene Interaction Network
Click a node to explore
CNTRLNINDCTN1CEP250KIF2AODF2PCNT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5JVD1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.65–0.83]
RankingsWhere CNTRL stands among ~20K protein-coding genes
  • #7,439of 20,598
    Most Researched62
  • #7,081of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedCNTRL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic and phenotypic delineation of congenital microcephaly.
PMID: 30214071
Genet Med · 2019
1.00
2
FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).
PMID: 27245147
Int J Mol Med · 2016
0.90
3
Effects of Blood Flow Restriction Resistance Training on Autonomic and Endothelial Function in Persons with Parkinson's Disease.
PMID: 38701159
J Parkinsons Dis · 2024
0.80
4
Empagliflozin mitigates ponatinib-induced cardiotoxicity by restoring the connexin 43-autophagy pathway.
PMID: 39116784
Biomed Pharmacother · 2024
0.70
5
Co-Expression Network Analysis Identifies Molecular Determinants of Loneliness Associated with Neuropsychiatric and Neurodegenerative Diseases.
PMID: 36982982
Int J Mol Sci · 2023
0.60