Gene Gene information from NCBI Gene database.
Entrez ID 2521
Gene name FUS RNA binding protein
Gene symbol FUS
Synonyms (NCBI Gene)
ALS6ETM4FUS1HNRNPP2POMP75TLSaltFUS
Chromosome 16
Chromosome location 16p11.2
Summary 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.
27
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.
619
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 factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
GTF3A Unknown 12364590
TBP Repression 19841068
TP53 Unknown 12364590
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137070 4010 ENSG00000089280
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
833
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis 6, autosomal recessive Pathogenic rs121909667 RCV000017608
Amyotrophic lateral sclerosis type 6 Pathogenic; Likely pathogenic rs2144142389, rs1596914113, rs2144138894, rs2144140268, rs1596912983, rs2544279075, rs2544251972, rs1555509699, rs2544279181, rs886041390, rs1555509605, rs1555509609, rs2544279594, rs121909668, rs121909669
View all (9 more)
RCV001386161
RCV001808069
RCV002008546
RCV001954906
RCV001956250
RCV003112340
RCV002617179
RCV002913845
RCV003153235
RCV001069729
RCV003455847
RCV003783685
RCV003783686
RCV003800708
RCV000017609
RCV000017610
RCV000017611
RCV000017612
RCV000022556
RCV000022557
RCV000995772
RCV000823358
RCV000989598
RCV001050825
RCV001095436
RCV001095437
RCV001095438
RCV001095435
RCV001201343
FUS-related disorder Pathogenic; Likely pathogenic rs1596912983, rs886041390, rs121909668, rs1555509569 RCV004746544
RCV003401225
RCV003421921
RCV004745160
RCV004722855
Juvenile amyotrophic lateral sclerosis Pathogenic rs886041390, rs1228194239 RCV001095439
RCV001095440
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs72550862, rs201544187, rs61733962 RCV005915022
RCV005922539
RCV005892795
Adrenocortical carcinoma, hereditary Benign rs61733962 RCV005892799
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity rs186547381 RCV003993752
Amyotrophic Lateral Sclerosis, Dominant Benign; Likely benign; Uncertain significance rs72550890, rs886051944, rs1216489571, rs753379140, rs572228309, rs1211904015, rs886051957 RCV000273657
RCV000284898
RCV000311065
RCV000342951
RCV000285704
RCV000318806
RCV000304394
RCV000356856
Associations from Text MiningDisease 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