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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCNF
cyclin F
Chromosome 16 Β· 16p13.3
NCBI Gene: 899Ensembl: ENSG00000162063.14HGNC: HGNC:1591UniProt: P41002
67PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinganaphase-promoting complex bindingSCF-dependent proteasomal ubiquitin-dependent protein catabolic processregulation of cell cyclefrontotemporal dementia and/or amyotrophic lateral sclerosisamyotrophic lateral sclerosisneurodegenerative diseasepolyneuropathy
✦AI Summary

CCNF encodes cyclin F, a substrate recognition component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates ubiquitination and proteasomal degradation of target proteins 1. The SCF(CCNF) complex functions as an integral component of the ubiquitin proteasome system, linking protein degradation to cell cycle regulation 1. Cyclin F targets various proteins involved in cell cycle progression and genome stability, including CP110, RRM2, and CDC6 during G2 phase to prevent centrosome reduplication and DNA re-replication 1. Pathogenic mutations in CCNF cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), with frequencies ranging from 0.6-1.1% in different populations 234. Disease-causing mutations like p.S621G disrupt normal ubiquitin homeostasis, leading to elevated Lys48-linked ubiquitination and defective autophagy in neuronal cells 15. These mutations cause ubiquitin-proteasome system dysfunction in motor neurons, resulting in accumulation of ubiquitinated protein inclusions characteristic of ALS/FTD pathology 5. The identification of CCNF mutations has expanded understanding of ALS pathogenesis and highlighted the critical role of protein quality control mechanisms in neurodegeneration 6.

Sources cited
1
CCNF encodes cyclin F as part of SCF E3 ubiquitin ligase complex and pathogenic mutations cause elevated ubiquitination and autophagy defects
PMID: 28852778
2
CCNF variants disrupt ubiquitin homeostasis and cause UPS dysfunction in motor neurons
PMID: 37220877
3
CCNF mutations are rare (0.6%) in Chinese ALS/FTD patients
PMID: 28281833
4
CCNF variants found in 1.1% of Chinese ALS patients with distinct clinical characteristics
PMID: 37171577
5
CCNF mutations identified in 0.8% of Taiwanese ALS patients with functional studies showing UPS dysfunction
PMID: 29102476
6
CCNF identified as one of seven novel ALS-associated genes since 2014, contributing to understanding of disease pathways
PMID: 29154141
Disease Associationsβ“˜21
frontotemporal dementia and/or amyotrophic lateral sclerosisOpen Targets
0.76Strong
amyotrophic lateral sclerosisOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.23Weak
polyneuropathyOpen Targets
0.12Weak
cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
breast cancerOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
HIV-1 infectionOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
adrenal cortex carcinomaOpen Targets
0.04Suggestive
melanomaOpen Targets
0.04Suggestive
frontotemporal dementiaOpen Targets
0.04Suggestive
liver cancerOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
secondary malignant neoplasmOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5UniProt
Pathogenic Variants3
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 621
NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
β˜†β˜†β˜†β˜†2021β†’ Residue 392
NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
β˜†β˜†β˜†β˜†2021β†’ Residue 624
View on ClinVar β†—
Related Genes
CDK2Protein interaction100%CDT1Protein interaction100%BTRCProtein interaction100%FBXW11Protein interaction100%KDM2AProtein interaction98%VCPProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
60%
Lung
15%
Ovary
13%
Liver
12%
Heart
7%
Gene Interaction Network
Click a node to explore
CCNFCDK2CDT1BTRCFBXW11KDM2AVCP
PROTEIN STRUCTURE
Preparing viewer…
PDB9CB3 Β· 3.47 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.53Moderately Constrained
pLIβ“˜
0.70Intermediate
Observed/Expected LoF0.39 [0.29–0.53]
RankingsWhere CCNF stands among ~20K protein-coding genes
  • #6,968of 20,598
    Most Researched67
  • #4,036of 5,498
    Most Pathogenic Variants3
  • #3,330of 17,882
    Most Constrained (LOEUF)0.53 Β· top quartile
Genes detectedCCNF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.
PMID: 29154141
Lancet Neurol Β· 2018
1.00
2
Single-cell RNA sequencing reveals the communications between tumor microenvironment components and tumor metastasis in osteosarcoma.
PMID: 39324133
Front Immunol Β· 2024
0.90
3
Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China.
PMID: 28281833
Amyotroph Lateral Scler Frontotemporal Degener Β· 2017
0.80
4
Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.
PMID: 37171577
Mol Neurobiol Β· 2023
0.70
5
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
PMID: 28852778
Cell Mol Life Sci Β· 2018
0.60