FUS Chromosome 16
FUS RNA binding protein
Upload your DNA to see your personal genotypes for variants in FUS.
What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers RANBP2-type|RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins|FET protein family"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000089280
Associated Conditions (11)
Amyotrophic lateral sclerosis type 6
Tremor
hereditary essential
4
Inborn genetic diseases
FUS-related disorder
Frontotemporal dementia
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 6
autosomal recessive
Juvenile amyotrophic lateral sclerosis
Key Variants
RS1085308015
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS112061837
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS138746304
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis type 6, Tremor
Health Risk
RS140883211
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS1415220872
Conflicting classifications of pathogenicity
Health Risk
RS144342946
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS186547381
Conflicting classifications of pathogenicity
Tremor, hereditary essential, 4
Health Risk
RS190724342
Conflicting classifications of pathogenicity
Tremor, hereditary essential, 4
Health Risk
RS199705472
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS200264565
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS201533156
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential
Health Risk
RS201772423
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis type 6, Tremor
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2079347087 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6 |
| RS2079350332 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6 |
| RS2079351113 | Health Risk | Pathogenic | Tremor, hereditary essential, 4 |
| RS2144138894 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS2144140268 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS2144142389 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS2544251972 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS2544279075 | Health Risk | Pathogenic | Tremor, hereditary essential, 4 |
| RS2544279594 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS387906627 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS387906628 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6 |
| RS387907274 | Health Risk | Pathogenic | Tremor, hereditary essential, 4 |
| RS886041389 | Health Risk | Pathogenic | — |
| RS886041390 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS886041577 | Health Risk | Pathogenic | — |
| RS886041776 | Health Risk | Pathogenic | — |
| RS1161032867 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121909671 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS1555509569 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |
| RS1555509605 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential |