Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2091
Gene name Gene Name - the full gene name approved by the HGNC.
Fibrillarin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBL
Synonyms (NCBI Gene) Gene synonyms aliases
FIB, FLRN, Nop1, RNU3IP1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000494 Process Box C/D RNA 3'-end processing IBA 21873635
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:0001651 Component Dense fibrillar component IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
134795 3599 ENSG00000105202
Protein
UniProt ID 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.
  KEGG   Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs869025224 8738957, 19077085, 9693280
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21466612
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21466612
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
27602772
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 27034851
Arrest of spermatogenesis Associate 33375868
Breast Neoplasms Associate 24029231, 35545761
Carcinogenesis Associate 24029231, 37489617
Cerebral Infarction Associate 36802116
Depression Postpartum Associate 34856750
Diabetes Mellitus Type 2 Associate 35601016
Esophageal Squamous Cell Carcinoma Associate 34586744
Fibrous Dysplasia Polyostotic Associate 7532674
Lung Neoplasms Associate 31501431