AlphaFold predicted structure
FUS · P35637
Mean pLDDT
53.6/ 100
Low
526 residues
Confidence breakdown
- Very high(≥ 90)9%
- Confident(70–90)14%
- Low(50–70)9%
- Very low(< 50)68%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
FUS
Chr 16p11.2FUS RNA binding protein
- Aliases:
- TLS, FUS1, hnRNP-P2, HNRNPP2
- MANE:
- ENST00000254108.12
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dementia (encompassing fronto-temporal dementia and prion disease)
Disease associations (Open Targets)
sporadic amyotrophic lateral sclerosis
0.72amyotrophic lateral sclerosis
0.71frontotemporal dementia with motor neuron disease
0.67essential tremor
0.56juvenile amyotrophic lateral sclerosis
0.53hereditary disease
0.42liposarcoma
0.39synovial sarcoma
0.38undifferentiated pleomorphic sarcoma
0.37extraskeletal myxoid chondrosarcoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
RNA-binding protein FUS
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' (PubMed:21256132). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Also binds its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity)
Diseases associated with FUS
Curated MONDO disease pages that list FUS among their top associated genes.