Species

Homo sapiens

Symbol

DYSF

Name

dysferlin

Synonyms

dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dystrophy-associated fer-1-like 1

Biotype

protein coding gene

Automated Description

Enables calcium ion binding activity and calcium-dependent phospholipid binding activity. Acts upstream of or within macrophage activation involved in immune response; monocyte activation involved in immune response; and negative regulation of phagocytosis. Located in T-tubule; centriolar satellite; and cytoplasmic vesicle. Implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal myopathy with anterior tibial onset; and muscular dystrophy.

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR12546

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr2:71453561...71686763 + (233.20 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

DYSF molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

DYSF role	DYSF genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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