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
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt O75923
TrEMBL B7Z2R1 Q7Z6P1
UniProt Splice Variant
Entrez Gene 8291
UniGene Hs.252180
RefSeq NM_001130980 NM_003494 NM_001130976 NM_001130977 NM_001130981 NM_001130978 NM_001130979 NM_001130982 NM_001130455 NM_001130986 NM_001130984 NM_001130983 NM_001130987 NM_001130985 XM_005264585 XM_005264584
HUGO HGNC:3097
OMIM 603009
CCDS CCDS46325 CCDS1918 CCDS46324 CCDS46326 CCDS46323 CCDS46327 CCDS46331 CCDS46332 CCDS46330 CCDS46328 CCDS46329
HPRD 04307
IMGT
EMBL AC010147 AC104084 AF075575 AJ007670 AJ007973 AJ566204 AK074104 AK074649 AK295004 CH471053 DQ267935 DQ976379 EF015906 EU515155 EU515156 EU515157 EU515158 EU515159 EU515160 EU515161 EU515162 EU515163 EU515164 EU515165 EU515166
GenPept AAC63519 AAY14954 AAY24199 ABB89736 ABI75150 ABK20181 ACB12752 ACB12753 ACB12754 ACB12755 ACB12756 ACB12757 ACB12758 ACB12759 ACB12760 ACB12761 ACB12762 ACB12763 BAB84930 BAG51981 BAH11947 CAA07603 CAA07800 CAD92859 EAW99763
RNA Seq Atlas 8291