Identity
HGNC
LOCATION
2p13.2
LOCUSID
ALIAS
FER1L1,LGMD2B,LGMDR2,MMD1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8291
MIM: 603009
HGNC: 3097
Ensembl: ENSG00000135636
Variants:
dbSNP: 8291
ClinVar: 8291
TCGA: ENSG00000135636
COSMIC: DYSF
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Smooth Muscle Contraction | REACTOME | R-HSA-445355 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37434585 | 2023 | Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. | 0 |
| 38110300 | 2023 | Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy. | 1 |
| 37434585 | 2023 | Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. | 0 |
| 38110300 | 2023 | Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy. | 1 |
| 35460889 | 2022 | DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene. | 9 |
| 35962550 | 2022 | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. | 2 |
| 35460889 | 2022 | DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene. | 9 |
| 35962550 | 2022 | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. | 2 |
| 33215690 | 2021 | Null variants in DYSF result in earlier symptom onset. | 2 |
| 33927379 | 2021 | Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. | 8 |
| 33987686 | 2021 | Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. | 0 |
| 34559919 | 2021 | Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective. | 5 |
| 33215690 | 2021 | Null variants in DYSF result in earlier symptom onset. | 2 |
| 33927379 | 2021 | Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. | 8 |
| 33987686 | 2021 | Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. | 0 |
Citation
Dessen P
DYSF (dysferlin)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/40381/dysf
