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Dysf Gene Detail
Summary
  • Symbol
    Dysf
  • Name
    dysferlin
  • Synonyms
    2310004N10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349385
    NCBI Gene: 26903
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:83985572-84188042 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 36.14 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5037 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349385
 protein coding gene Chr6:83985344-84188042 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030944
 protein coding gene Chr6:85064788-85295811 (+)
A/J MGP_AJ_G0030913
 protein coding gene Chr6:81817057-82026024 (+)
AKR/J MGP_AKRJ_G0030841
 protein coding gene Chr6:84186219-84403726 (+)
BALB/cJ MGP_BALBcJ_G0030923
 protein coding gene Chr6:81841454-82053527 (+)
C3H/HeJ MGP_C3HHeJ_G0030787
 protein coding gene Chr6:100015057-100231414 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031383
 protein coding gene Chr6:87404597-87634524 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028569
 protein coding gene Chr6:80180358-80381968 (+)
CAST/EiJ MGP_CASTEiJ_G0030032
 protein coding gene Chr6:84204043-84429732 (+)
CBA/J MGP_CBAJ_G0030610
 protein coding gene Chr6:90846637-91096951 (+)
DBA/2J MGP_DBA2J_G0030763
 protein coding gene Chr6:81131161-81339455 (+)
FVB/NJ MGP_FVBNJ_G0030716
 protein coding gene Chr6:80338336-80549632 (+)
LP/J MGP_LPJ_G0030842
 protein coding gene Chr6:85055463-85278022 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030752
 protein coding gene Chr6:95117984-95335844 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031407
 protein coding gene Chr6:84005591-84222538 (+)
PWK/PhJ MGP_PWKPhJ_G0029747
 protein coding gene Chr6:80039711-80264087 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029575
 protein coding gene Chr6:82831871-83067392 (+)
WSB/EiJ MGP_WSBEiJ_G0030113
 protein coding gene Chr6:84432142-84668875 (+)



Homology
more
  • Human Ortholog
    DYSF, dysferlin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DYSF, dysferlin
  • Synonyms
    FER1L1, LGMD2B, LGMDR2, MMD1
  • Links
    NCBI Gene ID: 8291
    neXtProt AC: NX_O75923
    UniProt: O75923

  • Chr Location
    2p13.2; chr2:71453561-71686763 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Dysf mouse models; 4 with human DYSF associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
 View 4 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 5 alleles in 6 genetic backgrounds
    12 phenotypes from multigenic genotypes
    2 images
    108 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    75
  • GO References
    20
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    710
  • Tissues
    3
  • cDNA Data
    42
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033788 Ensembl Gene Model | MGI Sequence Detail 202471 C57BL/6J ±  kb
    transcript ENSMUST00000204591 Ensembl | MGI Sequence Detail 6641 Not Applicable  
    polypeptide ENSMUSP00000144970 Ensembl | MGI Sequence Detail 2120 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 44
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-7701, MGI:1916762, MGI:2141453, MGI:93796
    References
    more
    • Summaries
      All 159
      Developmental Gene Expression 6
      Diseases 5
      Gene Ontology 20
      Phenotypes 108
    • Earliest
      J:57764 Bittner RE, et al., Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [letter]. Nat Genet. 1999 Oct;23(2):141-2
    • Latest
      J:339342 Uapinyoying P, et al., Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle. iScience. 2023 Aug 18;26(8):107479
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory