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Aliases for DYSF Gene

Aliases for DYSF Gene

  • Dysferlin 2 3
  • Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) 2 3
  • Fer-1-Like Family Member 1 2 3
  • Fer-1-Like Protein 1 3 4
  • LGMD2B 3 6
  • FER1L1 3 4
  • MMD1 3 6
  • Dystrophy-Associated Fer-1-Like Protein 4
  • Dystrophy-Associated Fer-1-Like 1 3

External Ids for DYSF Gene

Previous HGNC Symbols for DYSF Gene

  • LGMD2B

Previous GeneCards Identifiers for DYSF Gene

  • GC02P071690
  • GC02P071891
  • GC02P071655
  • GC02P071592
  • GC02P071680

Summaries for DYSF Gene

Entrez Gene Summary for DYSF Gene

  • 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]

GeneCards Summary for DYSF Gene

DYSF (Dysferlin) is a Protein Coding gene. Diseases associated with DYSF include muscular dystrophy, limb-girdle, type 2b and myopathy, distal, with anterior tibial onset. GO annotations related to this gene include calcium-dependent phospholipid binding. An important paralog of this gene is FER1L6.

UniProtKB/Swiss-Prot for DYSF Gene

  • Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).

Gene Wiki entry for DYSF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYSF Gene

Genomics for DYSF Gene

Regulatory Elements for DYSF Gene

Transcription factor binding sites by QIAGEN in the DYSF gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DYSF Gene

Start:
71,453,294 bp from pter
End:
71,686,768 bp from pter
Size:
233,475 bases
Orientation:
Plus strand

Genomic View for DYSF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DYSF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYSF Gene

Proteins for DYSF Gene

  • Protein details for DYSF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75923-DYSF_HUMAN
    Recommended name:
    Dysferlin
    Protein Accession:
    O75923
    Secondary Accessions:
    • A0FK00
    • B1PZ70
    • B1PZ71
    • B1PZ72
    • B1PZ73
    • B1PZ74
    • B1PZ75
    • B1PZ76
    • B1PZ77
    • B1PZ78
    • B1PZ79
    • B1PZ80
    • B1PZ81
    • B3KQB9
    • O75696
    • Q09EX5
    • Q0H395
    • Q53QY3
    • Q53TD2
    • Q8TEL8
    • Q9UEN7

    Protein attributes for DYSF Gene

    Size:
    2080 amino acids
    Molecular mass:
    237295 Da
    Quaternary structure:
    • Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca(2+)- and injury state-dependent. Interacts with ANXA2; the interaction is Ca(2+)- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (By similarity). Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca(2+)-independent. Interacts with AHNAK2; the interaction is direct and Ca(2+)-independent.
    SequenceCaution:
    • Sequence=BAG51981.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA07603.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA07603.1; Type=Frameshift; Positions=1972; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYSF Gene

neXtProt entry for DYSF Gene

Proteomics data for DYSF Gene at MOPED

Post-translational modifications for DYSF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYSF Gene

Domains for DYSF Gene

Suggested Antigen Peptide Sequences for DYSF Gene

Graphical View of Domain Structure for InterPro Entry

O75923

UniProtKB/Swiss-Prot:

DYSF_HUMAN :
  • O75923
Domain:
  • All seven C2 domains associate with lipid membranes in a calcium-dependent manner. Domains C2 1 and 3 have the highest affinity for calcium, the C2 domain 1 seems to be largely unstructured in the absence of bound ligands. The C2 domain 1 from isoform 14 does not bind calcium in the absence of bound phospholipid (PubMed:24239457, PubMed:24461013).
  • Contains 7 C2 domains.
Family:
  • Belongs to the ferlin family.
genes like me logo Genes that share domains with DYSF: view

No data available for Gene Families for DYSF Gene

Function for DYSF Gene

Molecular function for DYSF Gene

GENATLAS Biochemistry: dysferlin,related to the C elegans spermatogenesis factor fer-1,sarcolemmal protein,highly expressed in skeletal muscle,also expressed in heart and placenta,deleted in SJL mice
UniProtKB/Swiss-Prot Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).

Gene Ontology (GO) - Molecular Function for DYSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 24239457
GO:0005515 protein binding IPI 17185750
GO:0005543 phospholipid binding IDA 24239457
GO:0005544 calcium-dependent phospholipid binding IMP 11959863
genes like me logo Genes that share ontologies with DYSF: view
genes like me logo Genes that share phenotypes with DYSF: view

Animal Models for DYSF Gene

MGI Knock Outs for DYSF:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for DYSF Gene

Localization for DYSF Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYSF Gene

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYSF Gene COMPARTMENTS Subcellular localization image for DYSF gene
Compartment Confidence
plasma membrane 5
cytosol 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DYSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005768 endosome IDA 20595382
GO:0005769 early endosome IDA 20595382
GO:0005770 late endosome IDA 20595382
GO:0005886 plasma membrane IDA 20595382
genes like me logo Genes that share ontologies with DYSF: view

Pathways for DYSF Gene

SuperPathways for DYSF Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DYSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IEA --
GO:0006906 vesicle fusion IEA --
genes like me logo Genes that share ontologies with DYSF: view

No data available for Pathways by source for DYSF Gene

Compounds for DYSF Gene

(2) Novoseek inferred chemical compound relationships for DYSF Gene

Compound -log(P) Hits PubMed IDs
creatinine 49 5
calcium 0 1
genes like me logo Genes that share compounds with DYSF: view

Transcripts for DYSF Gene

Unigene Clusters for DYSF Gene

Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DYSF

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DYSF

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYSF Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^
SP1:
SP2: -

ExUns: 51 ^ 52 ^ 53 ^ 54 ^ 55
SP1:
SP2:

Relevant External Links for DYSF Gene

GeneLoc Exon Structure for
DYSF
ECgene alternative splicing isoforms for
DYSF

Expression for DYSF Gene

mRNA expression in normal human tissues for DYSF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DYSF Gene

This gene is overexpressed in Whole Blood (24.3) and Muscle - Skeletal (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DYSF Gene

SOURCE GeneReport for Unigene cluster for DYSF Gene Hs.252180

mRNA Expression by UniProt/SwissProt for DYSF Gene

O75923-DYSF_HUMAN
Tissue specificity: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.
genes like me logo Genes that share expressions with DYSF: view

In Situ Assay Products

Orthologs for DYSF Gene

This gene was present in the common ancestor of animals.

Orthologs for DYSF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYSF 35
  • 98.3 (n)
  • 98.2 (a)
DYSF 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DYSF 35
  • 89.15 (n)
  • 92.6 (a)
DYSF 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYSF 35
  • 89.85 (n)
  • 93.51 (a)
DYSF 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dysf 35
  • 87.95 (n)
  • 93.99 (a)
Dysf 16
Dysf 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYSF 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYSF 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dysf 35
  • 87.76 (n)
  • 93.58 (a)
chicken
(Gallus gallus)
Aves DYSF 35
  • 76.09 (n)
  • 77.83 (a)
DYSF 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 43 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11849 35
zebrafish
(Danio rerio)
Actinopterygii dysf 35
  • 67.8 (n)
  • 68.74 (a)
dysf 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mfr 36
  • 24 (a)
OneToMany
CG5747 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea fer-1 35
  • 43.25 (n)
  • 30.33 (a)
fer-1 36
  • 24 (a)
ManyToMany
ferl-1 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
Species with no ortholog for DYSF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DYSF Gene

ENSEMBL:
Gene Tree for DYSF (if available)
TreeFam:
Gene Tree for DYSF (if available)

Paralogs for DYSF Gene

Paralogs for DYSF Gene

Selected SIMAP similar genes for DYSF Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for DYSF Gene

genes like me logo Genes that share paralogs with DYSF: view

Variants for DYSF Gene

Sequence variations from dbSNP and Humsavar for DYSF Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs84181 -- 71,643,909(-) AGCAT(C/T)CTTCA intron-variant
rs84182 -- 71,644,106(-) CCCAG(C/T)ACGCA intron-variant
rs172910 -- 71,640,920(-) AATGA(A/T)CTACT intron-variant
rs227768 -- 71,637,247(-) tctcc(C/T)caccc intron-variant
rs227769 -- 71,631,435(+) AATAT(C/T)ACCCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DYSF Gene

Variant ID Type Subtype PubMed ID
nsv521345 CNV Loss 19592680
dgv4160n71 CNV Gain 21882294
esv274492 CNV Insertion 20981092
esv268421 CNV Insertion 20981092
nsv458141 CNV Loss 19166990
nsv525538 CNV Loss 19592680
nsv520271 CNV Gain 19592680
nsv874257 CNV Loss 21882294
nsv520774 CNV Loss 19592680
nsv458163 CNV Gain 19166990
nsv874258 CNV Loss 21882294
nsv458174 CNV Loss 19166990
esv2720187 CNV Deletion 23290073
esv2720188 CNV Deletion 23290073
esv2720189 CNV Deletion 23290073
esv29541 CNV Gain 19812545
esv2437559 CNV Deletion 19546169
esv2667653 CNV Deletion 23128226
nsv520337 CNV Loss 19592680

Relevant External Links for DYSF Gene

HapMap Linkage Disequilibrium report
DYSF
Human Gene Mutation Database (HGMD)
DYSF
Locus Specific Mutation Databases (LSDB)
DYSF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYSF Gene

Disorders for DYSF Gene

(3) OMIM Diseases for DYSF Gene (603009)

UniProtKB/Swiss-Prot

DYSF_HUMAN
  • Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601]: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. {ECO:0000269 PubMed:10196377, ECO:0000269 PubMed:11134403, ECO:0000269 PubMed:14678801, ECO:0000269 PubMed:15469449, ECO:0000269 PubMed:16010686, ECO:0000269 PubMed:16100712, ECO:0000269 PubMed:16705711, ECO:0000269 PubMed:16996541, ECO:0000269 PubMed:17287450, ECO:0000269 PubMed:18306167, ECO:0000269 PubMed:18853459, ECO:0000269 PubMed:9731526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. {ECO:0000269 PubMed:10196377, ECO:0000269 PubMed:11134403, ECO:0000269 PubMed:11468312, ECO:0000269 PubMed:12796534, ECO:0000269 PubMed:15116377, ECO:0000269 PubMed:15469449, ECO:0000269 PubMed:15477515, ECO:0000269 PubMed:15515206, ECO:0000269 PubMed:16010686, ECO:0000269 PubMed:16100712, ECO:0000269 PubMed:17287450, ECO:0000269 PubMed:18306167, ECO:0000269 PubMed:18853459, ECO:0000269 PubMed:9731526, ECO:0000269 Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Distal myopathy with anterior tibial onset (DMAT) [MIM:606768]: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DYSF Gene

(32) Novoseek inferred disease relationships for DYSF Gene

Disease -log(P) Hits PubMed IDs
miyoshi myopathy 99.2 65
lgmd2b 98.8 63
muscular dystrophy limb-girdle 95.7 32
distal myopathies 94 12
lgmd2g 93.5 6

Relevant External Links for DYSF

GeneTests
DYSF
GeneReviews
DYSF
Genetic Association Database (GAD)
DYSF
Human Genome Epidemiology (HuGE) Navigator
DYSF
genes like me logo Genes that share disorders with DYSF: view

Publications for DYSF Gene

  1. Dysferlin is a plasma membrane protein and is expressed early in human development. (PMID: 10196375) Anderson L.V.B. … Bushby K.M.D. (Hum. Mol. Genet. 1999) 3 4 23
  2. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). (PMID: 10196377) Weiler T. … Wrogemann K. (Hum. Mol. Genet. 1999) 3 4 23
  3. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. (PMID: 10496277) Matsuda C. … Brown R.H. Jr. (Neurology 1999) 3 4 23
  4. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. (PMID: 9731526) Liu J. … Brown R.H. Jr. (Nat. Genet. 1998) 3 4 23
  5. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. (PMID: 11198284) Illa I. … Brown R.H. (Ann. Neurol. 2001) 3 4 23

Products for DYSF Gene

Sources for DYSF Gene

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