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, limb girdle muscular dystrophy 2B (autosomal recessive)
NCBI Gene ID		8291
neXtProt AC		NX_O75923
Human Synonyms		FER1L1, LGMD2B, MMD1
Human Chr (Location)		2p13.3; chr2:71680753-71913893 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human DYSF

Alleles and phenotypes

All alleles(46) : Targeted(4) Gene trapped(40) Spontaneous(2)
 

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: (14 annotations)

Process	plasma membrane repair, vesicle fusion
Component	cytoplasmic vesicle, integral to membrane, ...
Function	calcium-dependent phospholipid binding, protein 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 Model	OTTMUSG00000022272 (Evidence)
Ensembl Gene Model	ENSMUSG00000033788 (Evidence)
Entrez Gene	26903 (Evidence)
UniGene	220982
DFCI	TC1598089, TC1602222, TC1651609, TC1668156, TC1725566
DoTS	DT.101372263, DT.101724993, DT.483639, DT.97406159
NIA Mouse Gene Index	U007093
Consensus CDS Project	CCDS39535.1, CCDS39536.1
International Mouse Knockout Project Status	Dysf

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022272	VEGA Gene Model | MGI Sequence Detail	202471	C57BL/6J
transcript	OTTMUST00000053043	VEGA | MGI Sequence Detail	6660	Not Applicable
polypeptide	OTTMUSP00000025199	VEGA | MGI Sequence Detail	2100	Not Applicable

All sequences(63) RefSeq(4) UniProt(6)

Polymorphisms

SNPs(750 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000008	C2 calcium-dependent membrane targeting
InterPro	IPR008973	C2 calcium/lipid-binding domain, CaLB
InterPro	IPR018029	C2 membrane targeting protein
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:193271 Spector I, et al., The involvement of collagen triple helix repeat containing 1 in muscular dystrophies. Am J Pathol. 2013 Mar;182(3):905-16
All references(75)

Other accession IDs

MGD-MRK-7701, MGI:1916762, MGI:2141453, MGI:93796