FUS FUS RNA binding protein

Gene ID: 2521, updated on 16-Apr-2024
Gene type: protein coding
Also known as: TLS; ALS6; ETM4; FUS1; POMP75; altFUS; HNRNPP2

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 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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Amyotrophic lateral sclerosis type 6 MedGen: C2931786OMIM: 608030GeneReviews: Amyotrophic Lateral Sclerosis Overview	See labs
Tremor, hereditary essential, 4 MedGen: C3539195OMIM: 614782GeneReviews: Not available	See labs

Genomic context

Location:: 16p11.2

Sequence:: Chromosome: 16; NC_000016.10 (31180110..31194871)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FUS variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ALSoD/FUS genetic mutations
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FUS database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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