Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2521
Gene name Gene Name - the full gene name approved by the HGNC.
FUS RNA binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FUS
Synonyms (NCBI Gene) Gene synonyms aliases
ALS6, ETM4, FUS1, HNRNPP2, POMP75, TLS, altFUS
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the F
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs72550890 CGGCGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGG Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, inframe insertion, inframe deletion, coding sequence variant
rs121909667 C>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121909668 C>A,G,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121909669 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121909671 G>A,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004196 hsa-miR-197-3p Microarray 16822819
MIRT047505 hsa-miR-10a-5p CLASH 23622248
MIRT047505 hsa-miR-10a-5p CLASH 23622248
MIRT047277 hsa-miR-181b-5p CLASH 23622248
MIRT046900 hsa-miR-221-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
GTF3A Unknown 12364590
TBP Repression 19841068
TP53 Unknown 12364590
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IDA 25453086, 27731383
GO:0003712 Function Transcription coregulator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 21909421
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137070 4010 ENSG00000089280
Protein
UniProt ID P35637
Protein name RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein)
Protein function DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3
PDB 2LA6 , 2LCW , 4FDD , 4FQ3 , 5W3N , 5XRR , 5XSG , 5YVG , 5YVH , 5YVI , 6BWZ , 6BXV , 6BZP , 6G99 , 6GBM , 6KJ1 , 6KJ2 , 6KJ3 , 6KJ4 , 6SNJ , 6XFM , 7CYL , 7VQQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 287 365 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00641 zf-RanBP 422 453 Zn-finger in Ran binding protein and others Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQSTDTSGYGQSSYSSYGQ
SQNTGYGTQSTPQGYGSTGGYGSSQSSQSSYGQQSSYPGYGQQPAPSSTSGSYGSSSQSS
SYGQPQSGSYSQQPSYGGQQQSYGQQQSYNPPQGYGQQNQYNSSSGGGGGGGGGGNYGQD
QSSMSSGGGSGGGYGNQDQSGGGGSGGYGQQDRGGRGRGGSGGGGGGGGGGYNRSSGGYE
PRGRGGGRGGRGGMGGSDRGGFNKFGGPRDQGSRHDSEQDNSDNNTIFVQGLGENVTIES
VADYFKQIGIIKTNKKTGQPMINLYTDRETGKLKGEATVSFDDPPSAKAAIDWFDGKEFS
GNPIK
VSFATRRADFNRGGGNGRGGRGRGGPMGRGGYGGGGSGGGGRGGFPSGGGGGGGQ
QRAGDWKCPNPTCENMNFSWRNECNQCKAPKPDGPGGGPGGSHMGGNYGDDRRGGRGGYD
RGGYRGRGGDRGGFRGGRGGGDRGGFGPGKMDSRGEHRQDRRERPY
Sequence length 526
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  mRNA surveillance pathway
Spliceosome
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Transcriptional misregulation in cancer
  mRNA Splicing - Major Pathway
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis type 6, juvenile amyotrophic lateral sclerosis rs387906628, rs886041390, rs1555509569, rs1555509609, rs1567479067, rs121909671, rs121909668, rs544088874, rs121909669, rs1228194239, rs2079347087, rs387906627 N/A
Tremor tremor, hereditary essential, 4 rs387907274 N/A
Amyotrophic lateral sclerosis amyotrophic lateral sclerosis 6, autosomal recessive rs121909667 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Distal Spinal Muscular Atrophy distal spinal muscular atrophy N/A N/A ClinVar
Frontotemporal dementia frontotemporal dementia N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 35637421
Adenocarcinoma Associate 36035281
Adenocarcinoma of Lung Associate 21151896
Alzheimer Disease Associate 30367664, 31405128, 32941707
Amyotrophic Lateral Sclerosis Associate 19669651, 19741216, 20138404, 20232451, 20517935, 20544928, 20577002, 20579074, 20598774, 20668259, 20668261, 20720006, 21074900, 21327870, 21452073
View all (158 more)
Amyotrophic Lateral Sclerosis Stimulate 34544842
Amyotrophic lateral sclerosis 1 Associate 19450904, 19674978, 19741215, 19741216, 20138404, 20517935, 20544928, 20577002, 20598774, 20668259, 20886222, 21603978, 21604077, 22055719, 23056579
View all (11 more)
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 34254495
Amyotrophic lateral sclerosis type 6 Associate 22055719, 34587215, 37582053
Atherosclerosis Associate 37688506