Gene

dysf

ID
ZDB-GENE-070501-1
Name
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Symbol
dysf Nomenclature History
Previous Names
  • si:rp71-50c18.1
  • wu:fb73b05
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in T-tubule organization; muscle organ morphogenesis; and plasma membrane repair. Localizes to T-tubule. Is expressed in brain; digestive system; eye; heart; and muscle. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal muscular dystrophy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin).
Genome Resources
Note
None
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dysf Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2B Alliance Muscular dystrophy, limb-girdle, autosomal recessive 2 253601
distal muscular dystrophy with anterior tibial onset Alliance Myopathy, distal, with anterior tibial onset 606768
Miyoshi muscular dystrophy 1 Alliance Miyoshi muscular dystrophy 1 254130
Associated With dysf Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR006614 Peroxin/Ferlin domain
Domain IPR012560 Ferlin A-domain
Domain IPR012561 Ferlin B-domain
Domain IPR012968 FerIin domain
Domain IPR032362 Ferlin, C-terminal domain
Domain IPR037720 Ferlin, second C2 domain
Domain IPR037722 Ferlin, third C2 domain
Domain IPR037723 Ferlin, fourth C2 domain
Domain IPR037724 Ferlin, fifth C2 domain
Domain IPR037725 Ferlin, sixth C2 domain
Domain IPR037726 Ferlin, first C2 domain
Family IPR029998 Dysferlin
Family IPR037721 Ferlin family
Homologous_superfamily IPR035892 C2 domain superfamily
Domain Details Per Protein
Protein Length C2 domain C2 domain superfamily Dysferlin FerIin domain Ferlin A-domain Ferlin B-domain Ferlin, C-terminal domain Ferlin family Ferlin, fifth C2 domain Ferlin, first C2 domain Ferlin, fourth C2 domain Ferlin, second C2 domain Ferlin, sixth C2 domain Ferlin, third C2 domain Peroxin/Ferlin domain
UniProtKB:F1QIS3 2088
UniProtKB:F6IA09 2088
UniProtKB:E7F4H1 2097
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-dysf monoclonal Mouse
  • IHC
Vector Laboratories
2
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations