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Dysf
Gene Detail
Symbol

Name
ID
Dysf
dysferlin
MGI:1349385
Synonyms
2310004N10Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 6
36.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:84008590-84211060 bp, + strand
From VEGA annotation of GRCm38

  202471 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20748  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: DYSF
Gene Tree: Dysf

Human
homologs
DYSF, dysferlin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8291
neXtProt AC: NX_O75923

Human Synonyms: FER1L1, LGMD2B, MMD1

Human Chr (Location): 2p13.3; chr2:71453119-71686763 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human DYSF

Mutations,
alleles, and
phenotypes
All mutations/alleles(49) : Gene trapped(40) Spontaneous(3) Targeted(5) Transgenic(1)
Genomic Mutations involving Dysf (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.
 
Human Diseases Modeled in Mice Using Dysf (3)    Mutations Annotated to Human Diseases (4)   
Interactions
Dysf interacts with 66 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process plasma membrane repair, vesicle fusion
Component cytoplasm, cytoplasmic vesicle, ...
Function calcium-dependent phospholipid binding, calcium ion binding, ...
External Resources: FuncBase
Expression
cDNA source data(42)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100495526 ; ZFIN dysf    NEW 
Molecular
reagents
All nucleic(44) cDNA(44)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000022272 (Evidence)
Ensembl Gene Model ENSMUSG00000033788 (Evidence)
Entrez Gene 26903 (Evidence)
UniGene 220982
DFCI TC1602222, TC1598089, TC1630810, TC1651609, TC1668156, TC1725566
DoTS DT.101724993, DT.101372263, DT.97406159, DT.94396671, DT.483639
NIA Mouse Gene Index U007093
Consensus CDS Project CCDS39535.1, CCDS39536.1
International Mouse Phenotyping Consortium Status Dysf
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022272 VEGA Gene Model | MGI Sequence Detail 202471 C57BL/6J ±  kb
transcript OTTMUST00000053043 VEGA | MGI Sequence Detail 6660 Not Applicable 
polypeptide OTTMUSP00000025199 VEGA | MGI Sequence Detail 2100 Not Applicable 

For the selected sequences
All sequences(118) RefSeq(55) UniProt(6)
Polymorphisms
SNPs within 2kb(770 from dbSNP Build 137)    SNPs within 2kb including multiple locations(778)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR012968 FerIin domain
InterPro IPR012560 Ferlin A-domain
InterPro IPR012561 Ferlin B-domain
InterPro IPR010482 Peroxin/Dysferlin domain
InterPro IPR006614 Peroxin/Ferlin domain
Protein Ontology PR:000006786 dysferlin
References
(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:221662 Roche JA, et al., Myofiber damage precedes macrophage infiltration after in vivo injury in dysferlin-deficient a/j mouse skeletal muscle. Am J Pathol. 2015 Jun;185(6):1686-98
All references(91)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-7701, MGI:1916762, MGI:2141453, MGI:93796

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory