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Aliases for FUS Gene

Aliases for FUS Gene

  • FUS RNA Binding Protein 2 3 5
  • Heterogeneous Nuclear Ribonucleoprotein P2 2 3
  • Translocated In Liposarcoma Protein 3 4
  • 75 KDa DNA-Pairing Protein 3 4
  • Fused In Sarcoma 2 3
  • Oncogene FUS 3 4
  • Oncogene TLS 3 4
  • POMP75 3 4
  • TLS 3 4
  • Fusion (Involved In T(12;16) In Malignant Liposarcoma) 2
  • Fusion, Derived From T(12;16) Malignant Liposarcoma 2
  • Fusion Gene In Myxoid Liposarcoma 3
  • Amyotrophic Lateral Sclerosis 6 2
  • Translocated In Liposarcoma 2
  • RNA-Binding Protein FUS 3
  • Fus-Like Protein 3
  • HNRNPP2 3
  • ALS6 3
  • ETM4 3
  • FUS1 3

External Ids for FUS Gene

Previous HGNC Symbols for FUS Gene

  • ALS6

Previous GeneCards Identifiers for FUS Gene

  • GC16P030273
  • GC16P031688
  • GC16P031188
  • GC16P031227
  • GC16P031098
  • GC16P031191
  • GC16P028753
  • GC16P031180

Summaries for FUS Gene

Entrez Gene Summary for FUS 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 FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]

GeneCards Summary for FUS Gene

FUS (FUS RNA Binding Protein) is a Protein Coding gene. Diseases associated with FUS include Tremor, Hereditary Essential, 4 and Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia. Among its related pathways are Transcriptional misregulation in cancer and mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is EWSR1.

UniProtKB/Swiss-Prot for FUS Gene

  • Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single-stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity.

Gene Wiki entry for FUS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FUS Gene

Genomics for FUS Gene

Regulatory Elements for FUS Gene

Enhancers for FUS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F031243 1.1 Ensembl ENCODE 10.6 +65.5 65490 2.8 BCOR HDAC1 PKNOX1 ATF1 ETV1 ZMYM3 NCOR1 GATA2 EED ZSCAN29 PYDC1 PYCARD TRIM72 FUS PRSS8 ZNF764 GC16P031242 ITGAM
GH16F031001 1.1 Ensembl ENCODE 10.1 -176.9 -176865 2.5 ELF3 PKNOX1 ARID4B SIN3A THRB ZNF48 RAD21 RARA ZNF366 EGR2 KAT8 ZNF668 STX4 SETD1A ZNF646 HSD3B7 PRSS36 PRSS8 FUS GC16P031001
GH16F031242 1 Ensembl 10.6 +62.7 62697 0.4 ATF1 PKNOX1 ARNT FOS NCOA1 MEF2D SMARCA4 MYNN PBX2 HMBOX1 PYCARD PYDC1 TRIM72 FUS PRSS8 GC16P031242 GC16P031225
GH16F031427 1 ENCODE 10.2 +249.7 249706 4.5 HDGF ATF1 CREB3L1 SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 ZNF548 ZNF747 LOC105371171 ZNF785 ENSG00000260267 MIR762HG ENSG00000260304 ZNF720 ARMC5 PYDC1 PRSS8
GH16F031301 0.9 Ensembl ENCODE 11.1 +122.3 122331 0.9 SRF HLF CEBPB CEBPG REST RAD21 IRF9 ZNF512 CEBPA ZMIZ1 PYCARD PYDC1 FUS STX4 STX1B SETD1A ITGAM ITGAX
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FUS on UCSC Golden Path with GeneCards custom track

Promoters for FUS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000506560 996 3401 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for FUS Gene

Chromosome:
16
Start:
31,179,704 bp from pter
End:
31,194,871 bp from pter
Size:
15,168 bases
Orientation:
Plus strand

Genomic View for FUS Gene

Genes around FUS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUS Gene

Proteins for FUS Gene

  • Protein details for FUS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35637-FUS_HUMAN
    Recommended name:
    RNA-binding protein FUS
    Protein Accession:
    P35637
    Secondary Accessions:
    • Q9H4A8

    Protein attributes for FUS Gene

    Size:
    526 amino acids
    Molecular mass:
    53426 Da
    Quaternary structure:
    • Component of nuclear riboprotein complexes. Interacts with ILF3, TDRD3 and SF1. Interacts through its C-terminus with SFRS13A. Interacts with OTUB1 and SARNP.

    Three dimensional structures from OCA and Proteopedia for FUS Gene

    Alternative splice isoforms for FUS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FUS Gene

Post-translational modifications for FUS Gene

  • Arg-216 and Arg-218 are dimethylated, probably to asymmetric dimethylarginine.
  • Ubiquitination at Lys 316 and Lys 365
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FUS (hnRNP P2)

No data available for DME Specific Peptides for FUS Gene

Domains & Families for FUS Gene

Graphical View of Domain Structure for InterPro Entry

P35637

UniProtKB/Swiss-Prot:

FUS_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
  • Belongs to the RRM TET family.
  • Contains 1 RanBP2-type zinc finger.
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the RRM TET family.
Similarity:
  • Contains 1 RanBP2-type zinc finger.
genes like me logo Genes that share domains with FUS: view

Function for FUS Gene

Molecular function for FUS Gene

GENATLAS Biochemistry:
RNA binding protein,highly homologous to EWS1,glycine-rich,regulator of BCR/ABL-mediated leukemogenesis,rearranged in myxoid liposarcoma with translocation t(12;16) and in myeloid leukemia with translocation t(16;21)(q13;p11)
UniProtKB/Swiss-Prot Function:
Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single-stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity.

Gene Ontology (GO) - Molecular Function for FUS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity IDA 21909421
GO:0003723 RNA binding TAS 8510758
genes like me logo Genes that share ontologies with FUS: view
genes like me logo Genes that share phenotypes with FUS: view

Human Phenotype Ontology for FUS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FUS Gene

Localization for FUS Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUS Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FUS gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FUS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 16365397
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005844 polysome IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with FUS: view

Pathways & Interactions for FUS Gene

genes like me logo Genes that share pathways with FUS: view

Pathways by source for FUS Gene

2 Cell Signaling Technology pathways for FUS Gene
1 BioSystems pathway for FUS Gene

SIGNOR curated interactions for FUS Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FUS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0071277 cellular response to calcium ion IEA --
GO:1903506 regulation of nucleic acid-templated transcription IEA --
genes like me logo Genes that share ontologies with FUS: view

Drugs & Compounds for FUS Gene

(2) Drugs for FUS Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FUS: view

Transcripts for FUS Gene

Unigene Clusters for FUS Gene

Fused in sarcoma:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FUS Gene

No ASD Table

Relevant External Links for FUS Gene

GeneLoc Exon Structure for
FUS
ECgene alternative splicing isoforms for
FUS

Expression for FUS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FUS Gene

Protein differential expression in normal tissues from HIPED for FUS Gene

This gene is overexpressed in Lymph node (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FUS Gene



Protein tissue co-expression partners for FUS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FUS Gene:

FUS

SOURCE GeneReport for Unigene cluster for FUS Gene:

Hs.46894

mRNA Expression by UniProt/SwissProt for FUS Gene:

P35637-FUS_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with FUS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FUS Gene

Orthologs for FUS Gene

This gene was present in the common ancestor of animals.

Orthologs for FUS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUS 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fus 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FUS 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FUS 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FUS 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUS 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FUS 35
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia fus-prov 34
zebrafish
(Danio rerio)
Actinopterygii fus 35
  • 65 (a)
OneToOne
zgc56390 34
fruit fly
(Drosophila melanogaster)
Insecta caz 35
  • 42 (a)
ManyToMany
CG14718 35
  • 25 (a)
ManyToMany
Species where no ortholog for FUS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FUS Gene

ENSEMBL:
Gene Tree for FUS (if available)
TreeFam:
Gene Tree for FUS (if available)

Paralogs for FUS Gene

Paralogs for FUS Gene

(3) SIMAP similar genes for FUS Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FUS: view

Variants for FUS Gene

Sequence variations from dbSNP and Humsavar for FUS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121909668 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030], Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030], Pathogenic 31,191,418(+) AGGAT(C/G/T)GCAGG nc-transcript-variant, reference, missense
rs121909669 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030], Pathogenic 31,191,410(+) GCACA(A/G)ACAGG nc-transcript-variant, reference, missense
rs121909671 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030], Pathogenic 31,191,419(+) GGATC(A/G)CAGGG nc-transcript-variant, reference, missense
rs148758737 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] 31,184,986(+) GCAGT(A/G)GTGGC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs186547381 Tremor, hereditary essential 4 (ETM4) [MIM:614782], Pathogenic 31,190,398(+) TAATC(C/T)GTGAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FUS Gene

Variant ID Type Subtype PubMed ID
nsv571820 CNV loss 21841781
nsv457483 CNV loss 19166990

Variation tolerance for FUS Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FUS Gene

Human Gene Mutation Database (HGMD)
FUS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FUS Gene

Disorders for FUS Gene

MalaCards: The human disease database

(49) MalaCards diseases for FUS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tremor, hereditary essential, 4
  • hereditary essential tremor 4
amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
  • amyotrophic lateral sclerosis type 6
fus-related amyotrophic lateral sclerosis
  • als6
myxoid liposarcoma
  • mrcls
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
- elite association - COSMIC cancer census association via MalaCards
Search FUS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FUS_HUMAN
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:19251627, ECO:0000269 PubMed:19251628, ECO:0000269 PubMed:19861302, ECO:0000269 PubMed:20124201}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. {ECO:0000269 PubMed:11063792}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving FUS is found in a patient with angiomatoid fibrous histiocytoma. Translocation t(12;16)(q13;p11.2) with ATF1 generates a chimeric FUS/ATF1 protein. {ECO:0000269 PubMed:11063792}.
  • Note=A chromosomal aberration involving FUS is a cause of acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with ERG. {ECO:0000269 PubMed:8187069}.
  • Note=A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with DDIT3. {ECO:0000269 PubMed:7503811}.
  • Tremor, hereditary essential 4 (ETM4) [MIM:614782]: A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. {ECO:0000269 PubMed:22863194}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FUS Gene

myxoid and round cell subtype liposarcoma,with breakpoint in t(12;16)(q13;p11) translocation

Relevant External Links for FUS

Genetic Association Database (GAD)
FUS
Human Genome Epidemiology (HuGE) Navigator
FUS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FUS
genes like me logo Genes that share disorders with FUS: view

Publications for FUS Gene

  1. Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. (PMID: 7503811) Rabbitts T.H. … Nathan P. (Nat. Genet. 1993) 2 3 4 22 64
  2. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PMID: 19251627) Kwiatkowski T.J. Jr. … Brown R.H. Jr. (Science 2009) 2 3 4 64
  3. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (PMID: 19251628) Vance C. … Shaw C.E. (Science 2009) 2 3 4 64
  4. Human POMp75 is identified as the pro-oncoprotein TLF/FUS: both POMp75 and POMp100 DNA homologous pairing activities are associated to cell proliferation. (PMID: 10442642) Bertrand P. … Lopez B.S. (Oncogene 1999) 3 4 22 64
  5. Exome sequencing identifies fus mutations as a cause of essential tremor. (PMID: 22863194) Merner N.D. … Rouleau G.A. (Am. J. Hum. Genet. 2012) 3 4 64

Products for FUS Gene

Sources for FUS Gene

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