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DYSF Gene

protein-coding   GIFtS: 61
GCID: GC02P071680

Dysferlin

(Previous name: limb girdle muscular dystrophy 2B (autosomal recessive))
(Previous symbol: LGMD2B)
  See DYSF-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
dysferlin1 2     FER1L12 3
LGMD2B1 2 5     MMD12 5
Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive)1 2     Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive)2
Dystrophy-Associated Fer-1-Like Protein2 3     Dystrophy-Associated Fer-1-Like 12
Fer-1-Like Protein 12 3     

External Ids:    HGNC: 30971   Entrez Gene: 82912   Ensembl: ENSG000001356367   OMIM: 6030095   UniProtKB: O759233   

Export aliases for DYSF gene to outside databases

Previous GC identifers: GC02P071690 GC02P071891 GC02P071655 GC02P071592 GC02P071417


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dysferlinopathy, and miyoshi myopathy. GO annotations related to this gene include calcium-dependent phospholipid binding. An important paralog of this gene is OTOF.

UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923
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 Wiki entry for DYSF (Dysferlin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DYSF gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDYSF promoter sequence
   Search Chromatin IP Primers for DYSF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYSF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p13.2   HGNC cytogenetic band: 2p13.3

DYSF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYSF gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P071680:  view genomic region     (about GC identifiers)

Start:
71,680,753 bp from pter      End:
71,913,898 bp from pter
Size:
233,146 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923 (See protein sequence)
Recommended Name: Dysferlin  
Size: 2080 amino acids; 237295 Da
Subunit: 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
Developmental stage: Expression in limb tissue from 5-6 weeks embryos; persists throughout development
Sequence caution: Sequence=BAG51981.1; Type=Erroneous initiation; Sequence=CAA07603.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=CAA07603.1; Type=Frameshift; Positions=1972;
4 PDB 3D structures from and Proteopedia for DYSF:
4CAH (3D)        4CAI (3D)        4IHB (3D)        4IQH (3D)    
Secondary accessions: B1PZ70 B1PZ71 B1PZ72 B1PZ73 B1PZ74 B1PZ75 B1PZ76 B1PZ77 B1PZ78 B1PZ79
B1PZ80 B1PZ81 B3KQB9 O75696 Q09EX5 Q0H395 Q53QY3 Q53TD2 Q8TEL8 Q9UEN7
Alternative splicing: 15 isoforms:  O75923-1   O75923-2   O75923-3   O75923-4   O75923-5   O75923-6   O75923-7   O75923-8   
O75923-9   O75923-10   O75923-11   O75923-12   O75923-13   O75923-14   O75923-15   

Explore the universe of human proteins at neXtProt for DYSF: NX_O75923

Explore proteomics data for DYSF at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DYSF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (14 alternative transcripts): 
    NP_001123927.1  NP_001124448.1  NP_001124449.1  NP_001124450.1  NP_001124451.1  NP_001124452.1  NP_001124453.1  NP_001124454.1  
    NP_001124455.1  NP_001124456.1  NP_001124457.1  NP_001124458.1  NP_001124459.1  NP_003485.1  

    ENSEMBL proteins: 
     ENSP00000387137   ENSP00000386547   ENSP00000398305   ENSP00000407046   ENSP00000258104  
     ENSP00000386683   ENSP00000377678   ENSP00000386285   ENSP00000386512   ENSP00000386881  
     ENSP00000386617  

    DYSF Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DYSF

     
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    LSBio Antibodies in human, mouse, rat for DYSF

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    Cloud-Clone Corp. ELISAs for DYSF
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    Search eBioscience for ELISAs for DYSF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR012561 Ferlin_B-domain
     IPR006614 Peroxin/Ferlin
     IPR012968 FerIin-domain
     IPR010482 Peroxin/Dysferlin
     IPR012560 Ferlin_A-domain

    Graphical View of Domain Structure for InterPro Entry O75923

    ProtoNet protein and cluster: O75923

    Selected Blocks protein domains (see all 6):
    IPB000008 C2 domain
    IPB006613 Dysferlin
    IPB006614 Dysferlin
    IPB012560 FerA
    IPB012561 FerB


    UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923
    Domain: The C2 domain 1 associates with lipid membranes in a calcium-dependent manner. The C2 domain 1 seems to be
    largely unstructured in the absence of bound ligands. The C2 domain 1 from isoform 1 contains one high-affinity
    calcium binding site; calcium binding leads to a more ordered conformation and increases protein stability. The
    C2 domain 1 from isoform 14 does not bind calcium in the absence of bound phospholipid
    Similarity: Belongs to the ferlin family
    Similarity: Contains 5 C2 domains


    Find genes that share domains with DYSF           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYSF_HUMAN, O75923
    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)

         Genatlas biochemistry entry for DYSF:
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA--
    GO:0005515protein binding IPI17185750
    GO:0005543phospholipid binding IDA--
    GO:0005544calcium-dependent phospholipid binding IMP11959863
         
    Find genes that share ontologies with DYSF           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for DYSF:
     Decreased p24 protein expressi  G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Dysf):
     behavior/neurological  homeostasis/metabolism  muscle  no phenotypic analysis 

    Find genes that share phenotypes with DYSF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for DYSF: Dysftm1Meho Dysftm2.1Kcam Dysftm1Kcam

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DYSF
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DYSF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DYSF

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate DYSF:
    hsa-miR-708 hsa-miR-765 hsa-miR-28-5p hsa-miR-3139
    SwitchGear 3'UTR luciferase reporter plasmidDYSF 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DYSF

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 14): DYSF (NM_001130976)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DYSF
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DYSF
    Addgene plasmids for DYSF 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYSF


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DYSF_HUMAN, O75923: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle
    membrane; Single-pass type II membrane protein (By similarity). 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    peroxisome2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IEA--
    GO:0030027lamellipodium IEA--
    GO:0030315T-tubule IDA17185750
    GO:0030659cytoplasmic vesicle membrane IEA--

    Find genes that share ontologies with DYSF           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including DYSF: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DYSF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for DYSF (O759231, 3 ENSP000003868814) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA2P073553, ENSP000003460324I2D: score=3 STRING: ENSP00000346032
    CAV3P565393, ENSP000003419404I2D: score=2 STRING: ENSP00000341940
    ANXA1P040833, ENSP000002574974I2D: score=3 STRING: ENSP00000257497
    CAPN3P208073, ENSP000003803494I2D: score=1 STRING: ENSP00000380349
    ACTN2P356091EBI-2799016,EBI-77797
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001778plasma membrane repair IEA--
    GO:0006906vesicle fusion IEA--

    Find genes that share ontologies with DYSF           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DYSF

    2 Novoseek inferred chemical compound relationships for DYSF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 49 6 11739845 (1), 14749532 (1), 19286669 (1), 17030657 (1) (see all 5)
    calcium 0 1 11077661 (1)



    Find genes that share compounds with DYSF           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DYSF gene (14 alternative transcripts): 
    NM_001130455.1  NM_001130976.1  NM_001130977.1  NM_001130978.1  NM_001130979.1  NM_001130980.1  NM_001130981.1  NM_001130982.1  
    NM_001130983.1  NM_001130984.1  NM_001130985.1  NM_001130986.1  NM_001130987.1  NM_003494.3  

    Unigene Cluster for DYSF:

    Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
    Hs.252180  [show with all ESTs]
    Unigene Representative Sequence: NM_001130981
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000409762 ENST00000409582(uc010fef.3) ENST00000429174 ENST00000413539
    ENST00000258104(uc010fei.3 uc010feh.3 uc002sig.4 uc010yqx.2 uc010feg.3 uc010fee.3 uc002sie.3)
    ENST00000409651(uc010feo.3) ENST00000394120(uc010fel.3 uc002sif.3)
    ENST00000409744(uc010fej.3) ENST00000409366(uc010fem.3) ENST00000410020(uc010fen.3)
    ENST00000410041(uc010fek.3) ENST00000461565 ENST00000475076 ENST00000479049(uc010yqy.2 uc010yqz.2)
    ENST00000493767 ENST00000472873 ENST00000494501 ENST00000487180
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate DYSF:
    hsa-miR-708 hsa-miR-765 hsa-miR-28-5p hsa-miR-3139
    SwitchGear 3'UTR luciferase reporter plasmidDYSF 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat DYSF

    Additional mRNA sequence: 

    AF075575.1 AK074104.1 AK074649.1 AK295004.1 AK303364.1 AK310739.1 BC038246.1 BC171803.1 
    DQ267935.1 EU515155.1 EU515156.1 EU515157.1 EU515158.1 EU515159.1 EU515160.1 EU515161.1 
    EU515162.1 EU515163.1 EU515164.1 EU515165.1 EU515166.1 

    15 DOTS entries:

    DT.219435  DT.100779365  DT.97858083  DT.75100058  DT.91749675  DT.120937777  DT.120937806  DT.91847977 
    DT.95102351  DT.95187372  DT.120937789  DT.95180834  DT.95187370  DT.95332778  DT.97864106 

    Selected AceView cDNA sequences (see all 133):

    AJ714402 BF724880 AW340298 CK301077 AI192657 AI097379 BQ420433 AL599589 
    AI128455 AW137024 AW303464 BI021402 AW303289 BI021262 AF075575 AW339948 
    CB154531 CB141180 BQ949648 NM_003494 AI678163 AI583737 AI739271 AL707440 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DYSF    About this scheme

    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:                              


    ECgene alternative splicing isoforms for DYSF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DYSF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCTCTGAG
    DYSF Expression
    About this image


    DYSF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    DYSF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DYSF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.252180

    UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DYSF gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dysf1 , 5 dysferlin1, 5 87.95(n)1
    93.99(a)1
      6 (36.14 cM)5
    269031  NM_021469.31  NP_067444.21 
     840085905 
    chicken
    (Gallus gallus)
    Aves DYSF1 dysferlin, limb girdle muscular dystrophy 2B (autosomal more 76.09(n)
    77.83(a)
      425353  XM_423126.4  XP_423126.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    43(a)
    many ↔ many
    GL344243.1(1051-58033)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.118492 Transcribed sequence with moderate similarity to protein more 78.97(n)    BX709910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dysf1 dysferlin, limb girdle muscular dystrophy 2B (autosomal more 67.8(n)
    68.74(a)
      560924  NM_001257193.1  NP_001244122.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57473   -- 32(a)   66E3   --
    worm
    (Caenorhabditis elegans)
    Secernentea fer-11 fer-1 43.25(n)
    30.33(a)
      172659  NM_059936.3  NP_492337.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DYSF gene
    OTOF2  FER1L62  MYOF2  
    2 SIMAP similar genes for DYSF using alignment to 4 protein entries:     DYSF_HUMAN (see all proteins):
    MYOF    FER1L5

    Find genes that share paralogs with DYSF           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DYSF
    PGOHUM00000262149


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DYSF (see all 5773)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349990291,2,,4
    C,FMiyoshi muscular dystrophy 1 (MMD1)4 --71606146(-) GCTCCG/TCCTCA 28 E A mis15Minor allele frequency- T:0.01NA EU 5667
    rs289375811,2,,4
    CMiyoshi muscular dystrophy 1 (MMD1)4 pathogenic171662912(+) GAATGG/TTCCAC 28 W C mis1 ese30--------
    rs1488584851,2,,4
    C,FLimb-girdle muscular dystrophy 2B (LGMD2B)4 --71691278(+) GAGATC/G/TGAGAT 42 I M mis1 syn12NA EU 5874
    rs1219089541,2,,4
    C,FMiyoshi muscular dystrophy 1 (MMD1)4 pathogenic171695405(+) CAAGGA/GTCCTG 28 I V mis12Minor allele frequency- G:0.01NA EU 5539
    rs760861531,2,,4
    C,FLimb-girdle muscular dystrophy 2B (LGMD2B)4 --71748849(+) CTTCAA/CGCTGT 28 K T mis11Minor allele frequency- C:0.00NA 4552
    rs1154078521,2,,4
    CMiyoshi muscular dystrophy 1 (MMD1)4 --71773676(+) GGAGCG/AGCCTG 28 /Q /R mis11Minor allele frequency- A:0.01NA 120
    VAR_0578584
    Miyoshi muscular dystrophy 1 (MMD1)4--see VAR_0578582 P L mis40--------
    VAR_0578394
    Limb-girdle muscular dystrophy 2B (LGMD2B)4--see VAR_0578392 I T mis40--------
    VAR_0578504
    Miyoshi muscular dystrophy 1 (MMD1)4--see VAR_0578502 G R mis40--------
    VAR_0578354
    Miyoshi muscular dystrophy 1 (MMD1)4--see VAR_0578352 V D mis40--------

    HapMap Linkage Disequilibrium report for DYSF (71680753 - 71913898 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DYSF (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667653CNV Deletion23128226
    esv2720188CNV Deletion23290073
    esv2437559CNV Deletion19546169
    esv2720189CNV Deletion23290073
    esv2720187CNV Deletion23290073
    esv274492CNV Insertion20981092
    esv268421CNV Insertion20981092
    nsv874258CNV Loss21882294
    nsv521345CNV Loss19592680
    nsv458141CNV Loss19166990

    Human Gene Mutation Database (HGMD): DYSF
    Locus Specific Mutation Databases (LSDB): DYSF

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603009   
    OMIM disorders: 253601  606768  254130  
    UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923
  • 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.
    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. 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

  • 15 diseases for DYSF:    
    About MalaCards
    dysferlinopathy    miyoshi myopathy    limb-girdle muscular dystrophy, type 2b    myopathy, distal, with anterior tibial onset
    limb-girdle muscular dystrophy    miyoshi muscular dystrophy 1    congenital myopathy, paradas type    distal muscular dystrophy
    yaws    trichomoniasis    rippling muscle disease    muscular dystrophy
    sarcoglycanopathies    dystrophinopathies    myopathy

    2 diseases from the University of Copenhagen DISEASES database for DYSF:
    Myopathy     Neuropathy

    Find genes that share disorders with DYSF           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DYSF gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    miyoshi myopathy 99.2 86 9570945 (2), 16010686 (2), 17785089 (2), 11117547 (2) (see all 56)
    lgmd2b 98.8 88 11665864 (8), 9570945 (6), 10069710 (3), 16010686 (2) (see all 40)
    muscular dystrophy limb-girdle 95.7 48 9570945 (2), 17785089 (2), 10766988 (2), 14967765 (1) (see all 29)
    distal myopathies 94 13 16116644 (2), 12445162 (1), 17337483 (1), 11134403 (1) (see all 11)
    lgmd2g 93.5 9 11665864 (3), 14959561 (1), 15316618 (1), 10069710 (1)
    distal muscular dystrophy 92.9 4 16310593 (1), 15568488 (1), 16891820 (1), 10995573 (1)
    muscular dystrophies 92.6 56 15254015 (2), 18306167 (2), 11117547 (2), 19380584 (2) (see all 41)
    limb girdle 92 17 12734659 (2), 16705711 (1), 16183658 (1), 10496277 (1) (see all 14)
    lgmd1c 91.8 7 11532985 (2), 15316618 (1), 14673575 (1), 15835269 (1) (see all 5)
    lgmd2a 91.3 14 11665864 (4), 10069710 (2), 12235836 (1), 14959561 (1) (see all 7)

    GeneTests: DYSF
    GeneReviews: DYSF
    Genetic Association Database (GAD): DYSF
    Human Genome Epidemiology (HuGE) Navigator: DYSF (2 documents)

    Export disorders for DYSF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DYSF gene, integrated from 10 sources (see all 234):
    (articles sorted by number of sources associating them with DYSF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dysferlin is expressed in human placenta but does not associate with caveolin. (PubMed id 17554076)1, 2, 9 Vandre D.D.... Robinson J.M. (Biol. Reprod. 2007)
    2. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. (PubMed id 15835269)1, 2, 9 Matsuda C.... Hayashi Y.K. (J. Neuropathol. Exp. Neurol. 2005)
    3. Dysferlin is a plasma membrane protein and is expressed early in human development. (PubMed id 10196375)1, 2, 9 Anderson L.V.B.... Bushby K.M.D. (Hum. Mol. Genet. 1999)
    4. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. (PubMed id 17363620)1, 2, 9 Klinge L....Bushby K. (FASEB J. 2007)
    5. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. (PubMed id 16996541)1, 2, 9 Therrien C.... Sinnreich M. (J. Neurol. Sci. 2006)
    6. Symptomatic dysferlin gene mutation carriers: characterization of two cases. (PubMed id 17287450)1, 2, 9 Illa I.... Gallardo E. (Neurology 2007)
    7. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1. (PubMed id 16896923)1, 2, 9 Pramono Z.A.D.... Yee W.C. (Hum. Genet. 2006)
    8. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. (PubMed id 16100712)1, 2, 9 Cagliani R.... Comi G.P. (Hum. Mutat. 2005)
    9. Developmental and tissue-specific regulation of a novel dysferlin isoform. (PubMed id 15318348)1, 2, 9 Salani S.... Comi G.P. (Muscle Nerve 2004)
    10. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. (PubMed id 14678801)1, 2, 9 Cagliani R.... Comi G.P. (Neuromuscul. Disord. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8291 HGNC: 3097 AceView: DYSF Ensembl:ENSG00000135636 euGenes: HUgn8291
    ECgene: DYSF H-InvDB: DYSF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DYSF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DYSF Genetics and Cytogenetics in Oncology and Haematology
    LEIDEN Muscular Dystrophy page for DYSF Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DYSF[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Dysferlin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DYSF gene:
    Search GeneIP for patents involving DYSF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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