DYSF (dysferlin)

2003-12-01  

Identity

HGNC
LOCATION
2p13.2
LOCUSID
ALIAS
FER1L1,LGMD2B,LGMDR2,MMD1
FUSION GENES

Other Information

Locus ID:

NCBI: 8291
MIM: 603009
HGNC: 3097
Ensembl: ENSG00000135636

Variants:

dbSNP: 8291
ClinVar: 8291
TCGA: ENSG00000135636
COSMIC: DYSF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135636ENST00000258104O75923
ENSG00000135636ENST00000394120O75923
ENSG00000135636ENST00000409366O75923
ENSG00000135636ENST00000409582O75923
ENSG00000135636ENST00000409651O75923
ENSG00000135636ENST00000409744O75923
ENSG00000135636ENST00000409762O75923
ENSG00000135636ENST00000410020O75923
ENSG00000135636ENST00000410041O75923
ENSG00000135636ENST00000413539O75923
ENSG00000135636ENST00000429174O75923

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Smooth Muscle ContractionREACTOMER-HSA-445355

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193805842009Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.114
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
182767882008Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.60
204136862010Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle.56
176987092007Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.53
192539562009Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides.42
235162752013Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.41
200823132010Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.40
214121702011Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.40
173636202007From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis.39

Citation

Dessen P

DYSF (dysferlin)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40381/dysf-(dysferlin)