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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

Gene Tree: Dysf

Human
homologs
Human Homolog DYSF, dysferlin
NCBI Gene ID 8291
neXtProt AC  NX_O75923
Human Synonyms  FER1L1, LGMD2B, MMD1
Human Chr (Location)  2p13.3; chr2:71453294-71686763 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human DYSF
Alleles
and
phenotypes
All alleles(47) : Gene trapped(40) Spontaneous(2) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.
 
Human Diseases Modeled Using Mouse Dysf (3)    Alleles Annotated to Human Diseases(4)   
Gene Ontology
(GO)
classifications
All GO classifications: (23 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)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(44) cDNA(44)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000022272 (Evidence)
Ensembl Gene ModelENSMUSG00000033788 (Evidence)
Entrez Gene26903 (Evidence)
UniGene220982
DFCITC1598089, TC1602222, TC1630810, TC1651609, TC1668156, TC1725566
DoTSDT.101372263, DT.101724993, DT.483639, DT.94396671, DT.97406159
NIA Mouse Gene IndexU007093
Consensus CDS ProjectCCDS39535.1, CCDS39536.1
International Mouse Knockout Project StatusDysf
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(116) RefSeq(53) 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:206183 Demonbreun AR, et al., Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. Am J Pathol. 2014 Jan;184(1):248-59
All references(85)
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
07/15/2014
MGI 5.18
The Jackson Laboratory