dysferlin

Summary
Gene Symbol
  • Dysf
Organism
Mus musculus (house mouse)
NCBI Gene
26903
PubChem
26903
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Cell membrane
  • Cytoplasmic vesicle
  • Endosome
  • Lipid-binding
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying all 9 entries
UniProt Protein Name
A0A0N4SUN3
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
A0A0N4SV63
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
A0A0N4SWH3
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
E9QL12
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
A0A0N4SUJ2
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
E9PXU9
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
E9Q423
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
Q9ESD7
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
A0A0N4SVX9
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Dysferlin
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
T-tubule organization
plasma membrane repair
Displaying all 3 entries
InterPro
C2 domain superfamily
C2 domain
Ferlin family
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B
DOID:11720 distal myopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025