Version 5.4
Mus musculus Gene: Dysf
Summary
InnateDB Gene IDBG-162220.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Dysf
Gene Name dysferlin
Synonyms 2310004N10Rik; AI604795; D6Pas3
Species Mus musculus
Ensembl Gene ENSMUSG00000033788
Encoded Proteins
IDBP-162222
dysferlin
IDBP-162224
dysferlin
IDBP-253055
dysferlin
IDBP-253057
dysferlin
IDBP-253059
dysferlin
IDBP-620250
dysferlin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000135636:
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:84008590-84211060
Strand Forward strand
Band C3
Transcripts
ENSMUST00000081904 ENSMUSP00000080579
ENSMUST00000089595 ENSMUSP00000087022
ENSMUST00000113823 ENSMUSP00000109454
ENSMUST00000113821 ENSMUSP00000109452
ENSMUST00000113818 ENSMUSP00000109449
ENSMUST00000127459
ENSMUST00000152646
ENSMUST00000142711
ENSMUST00000153860
ENSMUST00000128965
ENSMUST00000168387 ENSMUSP00000132297
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0005544 calcium-dependent phospholipid binding
Biological Process
GO:0001778 plasma membrane repair
GO:0006906 vesicle fusion
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
GO:0030315 T-tubule
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0042383 sarcolemma
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000135636
View Gene Order
ENSBTAG00000013290
Not yet available
Cross-References
SwissProt Q9ESD7
TrEMBL Q7TQI2
UniProt Splice Variant
Entrez Gene 26903
UniGene Mm.220982
RefSeq XM_006506180 XM_006506181 NM_001077694 NM_021469 XM_006506178 XM_006506179
OMIM
CCDS CCDS39535 CCDS39536
HPRD
IMGT
MGI ID MGI:1349385
MGI Symbol Dysf
EMBL AC153607 AC153608 AF188290 AJ242954 AK131144 BC043692 BC054421
GenPept AAG17046 AAH43692 AAH54421 BAD21394 CAB63111
RNA Seq Atlas 26903

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca