ZFIN ID: ZDB-GENE-070501-1
Gene Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Gene Symbol: dysf    Nomenclature History

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Previous Names: si:rp71-50c18.1, wu:fb73b05

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 7 Mapping Details/Browsers
Description: Involved in T-tubule organization; muscle organ morphogenesis; and plasma membrane repair. Localizes to the T-tubule. 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. Is expressed in brain; digestive system; eye; heart; and muscle. Orthologous to human DYSF (dysferlin).
Genome Resources: Alliance (1),  Gene:560924 (1),  Ensembl(GRCz11):ENSDARG00000007370 (2)
GENE EXPRESSION
All Expression Data: 4 figures from 3 publications
Wild-type Stages, Structures: Segmentation:1-4 somites (10.33h-11.66h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ka86 Small Deletion Exon 37 Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • ka87 Unknown Unknown Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • ka88 Unknown Unknown Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • ka89 Unknown Unknown Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • la025913Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11331 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17832 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20934 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa26952 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa30886 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa40887 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa40888 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-dysf 1
    MO1-dysf N/A 1
    MO2-dysf N/A 1
    MO3-dysf N/A 1
    MO4-dysf N/A 1
    MO5-dysf N/A 2
    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
    DISEASE ASSOCIATED WITH dysf VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process muscle organ morphogenesis (more)
    Cellular Component sarcolemma (more)
    Molecular Function calcium-dependent phospholipid binding (more)
    GO Terms (all 16)
    PROTEIN FAMILIES, DOMAINS AND SITES
    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
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA dysf-201 (1)    Ensembl 9223
    dysf-202 (1)    Ensembl 9146
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-dysf monoclonal Mouse IHC Vector Laboratories
    2
    CONSTRUCTS WITH SEQUENCES FROM dysf No data available
    MARKER RELATIONSHIPS
    dysf Contained in: [BAC] DKEYP-78E10, RP71-50C18
    dysf Encodes: [EST] fb73b05
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001257193 (1) 6622 nt
    Genomic GenBank:CR847843 (1) 162935 nt
    Select Tool
    Polypeptide UniProtKB:E7F4H1 (1) 2097 aa
    Sequence Information (all 33)
    ORTHOLOGY for dysf ( Chr: 7 )
    CITATIONS (27)