• Gene id: 2521

Gene Summary

• Gene Symbol: FUS   Gene   UCSC   Ensembl
• Aliases: ALS6, ETM4, FUS1, HNRNPP2, POMP75, TLS
• Gene name: FUS RNA binding protein
• Alternate names: RNA-binding protein FUS, 75 kDa DNA-pairing protein, fus-like protein, fused in sarcoma, fusion gene in myxoid liposarcoma, heterogeneous nuclear ribonucleoprotein P2, oncogene FUS, oncogene TLS, translocated in liposarcoma protein,
• Gene location: 16p11.2 (31180109: 31194870)     Exons: 15     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 137070

Protein Summary

• Protein general information: P35637  
  • Name: RNA binding protein FUS (75 kDa DNA pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein)
  • Length: 526  
  • Mass: 53426
  • Tissue specificity: Ubiquitous.
• Sequence:

  MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQSTDTSGYGQSSYSSYGQSQNTGYGTQSTPQGY
  GSTGGYGSSQSSQSSYGQQSSYPGYGQQPAPSSTSGSYGSSSQSSSYGQPQSGSYSQQPSYGGQQQSYGQQQSYN
  PPQGYGQQNQYNSSSGGGGGGGGGGNYGQDQSSMSSGGGSGGGYGNQDQSGGGGSGGYGQQDRGGRGRGGSGGGG
  GGGGGGYNRSSGGYEPRGRGGGRGGRGGMGGSDRGGFNKFGGPRDQGSRHDSEQDNSDNNTIFVQGLGENVTIES
  VADYFKQIGIIKTNKKTGQPMINLYTDRETGKLKGEATVSFDDPPSAKAAIDWFDGKEFSGNPIKVSFATRRADF
  NRGGGNGRGGRGRGGPMGRGGYGGGGSGGGGRGGFPSGGGGGGGQQRAGDWKCPNPTCENMNFSWRNECNQCKAP
  KPDGPGGGPGGSHMGGNYGDDRRGGRGGYDRGGYRGRGGDRGGFRGGRGGGDRGGFGPGKMDSRGEHRQDRRERP
  Y

• Structural information:
  • Protein Domains: (285..37-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034459  IPR012677  IPR035979  IPR000504  IPR034870   IPR001876  IPR036443  
  • Prosite: PS50102 PS01358 PS50199
  • PDB: 2LA6 2LCW 4FDD 4FQ3 5W3N 5XRR 5XSG 5YVG 5YVH 5YVI 6BWZ 6BXV 6BZP 6G99 6GBM 6KJ1 6KJ2 6KJ3 6KJ4
  • PDBsum: 2LA6 2LCW 4FDD 4FQ3 5W3N 5XRR 5XSG 5YVG 5YVH 5YVI 6BWZ 6BXV 6BZP 6G99 6GBM 6KJ1 6KJ2 6KJ3 6KJ4
  • DIP: 29857
  • STRING: ENSP00000254108
• Other Databases: GeneCards:  FUS  Malacards:  FUS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:1905168	positive regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0008380	RNA splicing	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0048255	mRNA stabilization	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0031489	myosin V binding	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0010467	gene expression	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0046966	thyroid hormone receptor binding	IEA	molecular function
GO:0046965	retinoid X receptor binding	IEA	molecular function
GO:0044327	dendritic spine head	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0005844	polysome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Essential tremor	KEGG:H01577
Amyotrophic lateral sclerosis	KEGG:H00058
Essential tremor	KEGG:H01577
Amyotrophic lateral sclerosis	PMID:19251628
Sarcoma	PMID:21658743
Sarcoma	PMID:21677541
neurodegenerative disease	PMID:21908872
Amyotrophic lateral sclerosis	PMID:21408206
liposarcoma	PMID:20332486
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray