Version 5.4
Homo sapiens Gene: DYSF
Summary
InnateDB Gene IDBG-56039.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DYSF
Gene Name dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Synonyms FER1L1; LGMD2B; MMD1
Species Homo sapiens
Ensembl Gene ENSG00000135636
Encoded Proteins
IDBP-56041
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-242224
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295587
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295592
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295579
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295582
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295586
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295583
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-295578
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-379802
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
IDBP-379803
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 2:71453722-71686768
Strand Forward strand
Band p13.2
Transcripts
ENST00000258104 ENSP00000258104
ENST00000394120 ENSP00000377678
ENST00000409762 ENSP00000387137
ENST00000409582 ENSP00000386547
ENST00000409651 ENSP00000386683
ENST00000409744 ENSP00000386285
ENST00000409366 ENSP00000386512
ENST00000410020 ENSP00000386881
ENST00000410041 ENSP00000386617
ENST00000413539 ENSP00000407046
ENST00000429174 ENSP00000398305
ENST00000461565
ENST00000475076
ENST00000479049
ENST00000493767
ENST00000472873
ENST00000494501
ENST00000487180
ENST00000468173
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000033788
View Gene Order
ENSBTAG00000013290
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.252180
RefSeq NM_001130455 NM_001130976 NM_001130977 NM_001130978 NM_001130979 NM_001130980 NM_001130981 NM_001130982 NM_001130983 NM_001130984 NM_001130985 NM_001130986 NM_001130987 NM_003494 XM_005264584 XM_005264585
HUGO
OMIM
CCDS CCDS1918 CCDS46323 CCDS46324 CCDS46325 CCDS46326 CCDS46327 CCDS46328 CCDS46329 CCDS46330 CCDS46331 CCDS46332
HPRD 04307
IMGT
EMBL
GenPept
RNA Seq Atlas

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