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GeneE
26 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.
FBL
fibrillarin rRNA 2'-O-methyltransferase
Chromosome 19 · 19q13.2
NCBI Gene: 2091Ensembl: ENSG00000105202.10HGNC: HGNC:3599UniProt: P22087
304PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
TFIID-class transcription factor complex bindingRNA bindingprotein bindingATPase bindingneurodegenerative diseasediabetic ketoacidosishead injuryhepatocellular carcinoma
✦AI Summary

Based on the provided abstracts, there is insufficient information to write a comprehensive gene function summary for FBL (fibrillarin rRNA 2'-O-methyltransferase). The PubMed abstracts provided do not contain any direct information about FBL or its functions. The abstracts cover unrelated topics including cardiorespiratory fitness 1, autism spectrum disorder 2, epigenetic alterations in cancer 3, coenzyme Q10 applications 4, hypertrophic cardiomyopathy genetics 5, vitamin D and neurocognitive function 6, MALAT1 in tumorigenesis 7, and cancer-related genes in ALS 8. None of these abstracts mention fibrillarin, rRNA 2'-O-methyltransferase activity, ribosome biogenesis, or any of the molecular functions associated with FBL. To provide an accurate, evidence-based summary of FBL gene function, abstracts specifically discussing fibrillarin and its roles in rRNA processing, ribosome biogenesis, and methyltransferase activity would be required.

Sources cited
1
Abstract discusses cardiorespiratory fitness, not FBL
PMID: 29293447
2
Abstract covers autism spectrum disorder, not FBL
PMID: 32472753
3
Abstract discusses epigenetic alterations in cancer, not FBL
PMID: 32114424
4
Abstract covers coenzyme Q10 applications, not FBL
PMID: 24389208
5
Abstract discusses hypertrophic cardiomyopathy genetics, not FBL
PMID: 40018920
6
Abstract covers vitamin D and neurocognitive function, not FBL
PMID: 33049684
7
Abstract discusses MALAT1 in tumorigenesis, not FBL
PMID: 27814602
8
Abstract covers cancer-related genes in ALS, not FBL
PMID: 31136977
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
diabetic ketoacidosisOpen Targets
0.29Weak
head injuryOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
Pallister-Hall syndromeOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
systemic sclerodermaOpen Targets
0.06Suggestive
rheumatoid arthritisOpen Targets
0.06Suggestive
intestinal obstructionOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
breast neoplasmOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNU13Protein interaction100%DKC1Protein interaction100%NHP2Protein interaction100%MPHOSPH10Protein interaction100%UTP3Protein interaction100%NCLProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
71%
Lung
38%
Brain
35%
Liver
30%
Heart
24%
Gene Interaction Network
Click a node to explore
FBLSNU13DKC1NHP2MPHOSPH10UTP3NCL
PROTEIN STRUCTURE
Preparing viewer…
PDB7SE7 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.14–0.41]
RankingsWhere FBL stands among ~20K protein-coding genes
  • #1,137of 20,598
    Most Researched304 · top 10%
  • #2,087of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedFBL
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Survival of the fittest: VO
PMID: 29293447
Front Biosci (Landmark Ed) · 2018
1.00
2
Risk factors, diagnosis, prognosis and treatment of autism.
PMID: 32472753
Front Biosci (Landmark Ed) · 2020
0.90
3
Epigenetic alterations in cancer.
PMID: 32114424
Front Biosci (Landmark Ed) · 2020
0.80
4
Retinal Biology in Health and Disease.
PMID: 39344338
Front Biosci (Landmark Ed) · 2024
0.76
5
Environmental medicine and its impact on human health.
PMID: 34856744
Front Biosci (Landmark Ed) · 2021
0.72