FBL (fibrillarin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2091
Gene name Fibrillarin
Gene symbol FBL
Synonyms (NCBI Gene)
FIBFLRNNop1RNU3IP1
Chromosome 19
Chromosome location 19q13.2
Summary This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the de
miRNA miRNA information provided by mirtarbase database.
10
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT050515 hsa-miR-20a-5p CLASH 23622248
MIRT047276 hsa-miR-181b-5p CLASH 23622248
MIRT043089 hsa-miR-324-5p CLASH 23622248
MIRT989986 hsa-miR-144 CLIP-seq
MIRT989987 hsa-miR-2277-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0000494 Process Box C/D sno(s)RNA 3'-end processing IBA
GO:0001094 Function TFIID-class transcription factor complex binding IPI 17636026
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0001650 Component Fibrillar center IDA
GO:0001650 Component Fibrillar center IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
134795 3599 ENSG00000105202
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22087
Protein name rRNA 2'-O-methyltransferase fibrillarin (EC 2.1.1.-) (34 kDa nucleolar scleroderma antigen) (Histone-glutamine methyltransferase) (U6 snRNA 2'-O-methyltransferase fibrillarin)
Protein function S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins (PubMed:24352239, PubMed:30540930, PubMed:32017898). Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methyla
PDB 2IPX , 7MQ8 , 7MQ9 , 7MQA , 7SE6 , 7SE7 , 7SE8 , 7SE9 , 7SEA , 7SEB , 7SEC , 7SED
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01269 Fibrillarin 88 → 315 Fibrillarin Domain
Sequence
Sequence length 321
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (75)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 30658728
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27034851 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 30607435, 30856201
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 30036523
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 1846968
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases CTD_human_DG 19077085, 8738957, 9693280
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma CTD_human_DG 21466612
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23542174, 24029231, 30501594
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24029231, 35545761 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations