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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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 457.29   (req: < 5)
Gene RIFs: 113   (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: 457.29   (req: >= 5)
Gene RIFs: 113   (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
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intelligence
2
2
0
6
80.8
mathematical ability
1
1
1
48.6
serum IgA measurement
1
1
1
13.5
eosinophil count
1
1
1
0.3
1
1
0
1.1
0.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intelligence
0
6
80.8
mathematical ability
1
48.6
serum IgA measurement
1
13.5
eosinophil count
1
0.3
0
1.1
0.2
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
dysferlin
VGNC:231
459315
Macaque
dysferlin
704636
Mouse
MGI:1349385
26903
Rat
RGD:1311023
312492
Dog
dysferlin
VGNC:40159
483121
Species
Name
OMA
EggNOG
Inparanoid
Chimp
dysferlin
Macaque
dysferlin
Mouse
Rat
Dog
dysferlin
Protein Structure (4 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O75923-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 4 of 4
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (2)
Muscle contraction (R-HSA-397014)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 2 of 2
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Muscle contraction
Reactome
Smooth Muscle Contraction
Name
Explore in Pharos
Explore in Source
Muscle contraction
Smooth Muscle Contraction
Gene Ontology Terms (44)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (111)
1 – 10 of 111
CAV3
Tbio
Novelty: 0.00190092
Score: 0.997
Data Source: Reactome,STRINGDB
ANXA1
Tbio
Novelty: 0.00103537
Score: 0.986
Data Source: Reactome,STRINGDB
TRIM72
Tbio
Novelty: 0.01480557
Score: 0.986
Data Source: Reactome,STRINGDB
ANXA2
Tbio
Novelty: 0.00103362
Score: 0.985
Data Source: Reactome,STRINGDB
ANXA6
Tbio
Novelty: 0.00286706
Score: 0.975
Data Source: Reactome,STRINGDB
CAPN3
Tbio
Novelty: 0.00318437
Score: 0.909
Data Source: STRINGDB
DMD
Tclin
Novelty: 0.00025661
Score: 0.84
Data Source: STRINGDB
MMD2
Tbio
Novelty: 0.07096035
Score: 0.802
Data Source: STRINGDB
ANO5
Tbio
Novelty: 0.01237979
Score: 0.794
Data Source: STRINGDB
AHNAK
Tbio
Novelty: 0.01201996
Score: 0.776
Data Source: STRINGDB
Publication Statistics
PubMed Score  457.29

PubMed score by year
PubTator Score  342.96

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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