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Tbio
DYSF
Dysferlin

Protein Summary
Description
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000258104
  • ENSP00000258104
  • ENSG00000135636
  • ENST00000394120
  • ENSP00000377678
  • ENST00000409366
  • ENSP00000386512
  • ENST00000409582
  • ENSP00000386547
  • ENST00000409651
  • ENSP00000386683
  • ENST00000409744
  • ENSP00000386285
  • ENST00000409762
  • ENSP00000387137
  • ENST00000410020
  • ENSP00000386881
  • ENST00000410041
  • ENSP00000386617
  • ENST00000413539
  • ENSP00000407046
  • ENST00000429174
  • ENSP00000398305

Symbol
  • FER1L1
  • MMD1
  • FER1L1
  • LGMD2B
  • LGMDR2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.92
biological term
0.87
gene perturbation
0.8
PubMedID
0.78
transcription factor
0.76


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 516.81   (req: < 5)
Gene RIFs: 130   (req: <= 3)
Antibodies: 271   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 516.81   (req: >= 5)
Gene RIFs: 130   (req: > 3)
Antibodies: 271   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 28
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0