Myof Gene Summary [Mouse]

The protein encoded by this gene is a member of the ferlin family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Details

Type
Nonsense Mediated Decay
Official Symbol
Myof
Official Name
myoferlin [Source:MGI Symbol;Acc:MGI:1919192]
Ensembl ID
ENSMUSG00000048612
Bio databases IDs NCBI: 226101 Ensembl: ENSMUSG00000048612
Aliases myoferlin
Synonyms 2310004N10Rik, 2310051D19Rik, DKFZP564E1616, E030042N20Rik, FER1L3, HAE7, Myoferlin, RGD1564216
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 Myof 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
  • Dysferlin domain, N-terminal region
  • FerA (NUC095) domain
  • FerI (NUC094) domain
  • protein 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
  • neoplasia
  • pancreatic cancer
  • metastasis
  • organismal death
  • hereditary angioedema type VII
  • head and neck squamous cell carcinoma
  • head and neck squamous cell cancer
  • infection by HIV-1
regulated by
regulates
role in cell
  • accumulation in
  • formation
  • expression in
  • fusion
  • growth
  • migration
  • morphology
  • production in
  • proliferation
  • signaling in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear membrane fraction
  • pH resistant lipid raft fraction
  • detergent resistant lipid raft fraction
  • fusion site
  • intracellular membrane-bounded organelle
  • cilia
  • cell surface
  • cellular membrane
  • Plasma Membrane
  • basal bodies
  • vesicles
  • centrosome
  • lysosome
  • cell-cell contacts
  • caveolae
  • nucleoli
  • nuclear envelope
  • cytoplasmic vesicles
  • membrane rafts

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • regulation of neurotransmitter secretion
  • plasma membrane repair
  • muscle contraction
  • blood circulation

Cellular Component

Where in the cell the gene product is active
  • nuclear envelope
  • nuclear membrane
  • caveola
  • extracellular vesicular exosome
  • intracellular membrane-bounded organelle
  • centriolar satellite
  • cytoplasmic vesicle
  • synaptic vesicle membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • 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.