Dysf Gene Summary [Mouse]

Enables alpha-tubulin binding activity and microtubule binding activity. Involved in vesicle fusion. Acts upstream of or within several processes, including myeloid cell activation involved in immune response; negative regulation of macromolecule metabolic process; and plasma membrane organization. Located in several cellular components, including T-tubule; lamellipodium; and microtubule. Is expressed in future spinal cord and heart ventricle. Used to study autosomal recessive limb-girdle muscular dystrophy type 2B and distal myopathy. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal myopathy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). [provided by Alliance of Genome Resources, Apr 2025]

Details

Type
Protein Coding
Official Symbol
Dysf
Official Name
dysferlin [Source:MGI Symbol;Acc:MGI:1349385]
Ensembl ID
ENSMUSG00000033788
Bio databases IDs NCBI: 26903 Ensembl: ENSMUSG00000033788
Aliases dysferlin
Synonyms 2310004N10Rik, D6Pas3, Dysferlin, FER1L1, LGMD2B, LGMDR2, MMD1
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Dysf often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phospholipid binding
  • calcium ion binding
  • calcium-dependent phospholipid binding
  • protein binding
  • microtubule binding
  • Dysferlin domain, N-terminal region
  • FerA (NUC095) domain
  • cytoplasmic domain
  • FerI (NUC094) domain
  • alpha-tubulin binding
  • Protein kinase C conserved region 2 (CalB)
  • C2 domain
  • FerB (NUC096) domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • dysferlinopathy
  • Miyoshi myopathy
  • limb-girdle muscular dystrophy type 2B
  • limb-girdle muscular dystrophy type 2
  • early missed abortion
  • limb-girdle muscular dystrophy type 1c
  • early onset cardiomyopathy
  • septic shock
  • endomysial fibrosis
regulated by
regulates
role in cell
  • expression in
  • quantity
  • size
  • activation
  • proliferation
  • repair in
  • differentiation
  • development
  • damage
  • disruption

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cytoplasmic vesicle membrane
  • intracellular network
  • Cytoplasm
  • cell surface
  • cell periphery
  • membrane surface
  • cellular membrane
  • focal adhesions
  • Nucleus
  • endosomes
  • vesicles
  • centrosome
  • Golgi Apparatus
  • microtubules
  • cell-cell contacts
  • granules
  • microdomains
  • sarcolemma
  • early endosomes
  • late endosomes
  • cytoplasmic vesicles
  • endocytotic vesicle
  • transverse tubules
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Dysf gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of neurotransmitter secretion
  • monocyte activation involved in immune response
  • macrophage activation involved in immune response
  • negative regulation of phagocytosis

Cellular Component

Where in the cell the gene product is active
  • T-tubule
  • endocytic vesicle
  • cytoplasmic vesicle membrane
  • early endosome
  • extracellular vesicular exosome
  • endosome
  • centriolar satellite
  • sarcolemma
  • late endosome
  • synaptic vesicle membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • phospholipid binding
  • calcium-dependent phospholipid binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.