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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DYSF Gene

protein-coding   GIFtS: 61
GCID: GC02P071680

dysferlin, limb girdle muscular dystrophy 2B (autosomal...


(Previous symbol: LGMD2B)
 Explore 25 diseases affiliated with
DYSF via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DYSF    

Aliases
for DYSF gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive)1 2     Fer-1-Like Protein 12 3
FER1L11 2 3     MMD12
LGMD2B1 2 5     Dysferlin1
Dystrophy-Associated Fer-1-Like Protein2 3     Dystrophy-Associated Fer-1-Like 12

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


Summaries
for DYSF gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DYSF:
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)

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)


Genomic Views
for DYSF 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DYSF gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DYSF promoter sequence
   Search SABiosciences Chromatin IP Primers for DYSF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DYSF gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane;
Single-pass type II membrane protein (By similarity). 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)
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;
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75923

    • DYSF Protein expression data from MOPED and PaxDb:    About this image 
    DYSF Protein Expression
    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: 
     ENSP00000407046   ENSP00000387137   ENSP00000386547   ENSP00000398305   ENSP00000258104  
     ENSP00000386683   ENSP00000377678   ENSP00000386285   ENSP00000386512   ENSP00000386881  
     ENSP00000386617  

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    Uscn Proteins for DYSF

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS10496277
    GO:0016021integral to membrane IEA--
    GO:0030027lamellipodium IEA--
    GO:0030315T-tubule IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--

    DYSF for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DYSF

    Protein Domains /
    Families
    for DYSF gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DYSF for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR012561 Ferlin_B-domain
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR006614 Peroxin/Ferlin
     IPR012968 FerIin-domain
     IPR010482 Peroxin/Dysferlin

    Graphical View of Domain Structure for InterPro Entry O75923

    ProtoNet protein and cluster: O75923

    5/6 Blocks protein families (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
    Similarity: Belongs to the ferlin family
    Similarity: Contains 5 C2 domains


    Function
    for DYSF gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005544calcium-dependent phospholipid binding IMP11959863
         
    DYSF for ontologies           About GeneDecksing


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

         3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Dysf):
     behavior/neurological  homeostasis/metabolism  muscle 

    DYSF for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for DYSF: Dysftm1Meho Dysftm1Kcam
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DYSF 

    miRNA
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    hsa-miR-708 hsa-miR-765 hsa-miR-28-5p hsa-miR-3139
    SwitchGear 3'UTR luciferase reporter plasmid: DYSF 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DYSF (see all 7)
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    Sirion Biotech Custom design and validation of potent shRNA sequences against DYSF 

    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Pathways & Interactions
    for DYSF gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DYSF

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

    5/22 Interacting proteins for DYSF (O759231, 3 ENSP000003868814) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    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-928705
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    DYSF for ontologies           About GeneDecksing



    Drugs & Compounds
    for DYSF gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DYSF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DYSF
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DYSF 

    Transcripts
    for DYSF gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000413539 ENST00000409762 ENST00000409582(uc010fef.3) ENST00000429174
    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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    hsa-miR-708 hsa-miR-765 hsa-miR-28-5p hsa-miR-3139
    SwitchGear 3'UTR luciferase reporter plasmid: DYSF 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/133 AceView cDNA sequences (see all 133):

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

    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

    Expression
    for DYSF gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DYSF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGCTCTGAG
    DYSF Expression
    About this image

    DYSF expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    HeartHeart TubeHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13) 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
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    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

    See DYSF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYSF

    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). Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine,
    placenta and at lower levels in liver, lung, kidney and pancreas

        SABiosciences Expression via Pathway-Focused PCR Array including DYSF: 
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    Orthologs
    for DYSF gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DYSF gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DYSF1 dysferlin, limb girdle muscular dystrophy 2B (autosomal more 76.83(n)
    78.95(a)    		   425353  XM_423126.3  XP_423126.3 
    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 67.98(n)
    69.41(a)    		   560924  XM_684324.4  XP_689416.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG57473   -- 32(a)   66E3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea fer-11 Protein FER-1 43.26(n)
    30.18(a)    		   172659  NM_059936.3  NP_492337.1 


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

    Paralogs
    for DYSF gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    DYSF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DYSF
    PGOHUM00000262149


    Genomic Variants
    for DYSF gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4672 NCBI SNPs in DYSF are shown (see all 4672)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219089631,2
    		Cpathogenic71744158(+) TCCTCA/G/TGGGAG 42 R G W mis10--------
    rs1219089601,2
    		Cpathogenic71780261(+) AGTTCA/G/TACATG 42 N D Y mis10--------
    rs1219089541,2
    		C,Fpathogenic71829924(+) CAAGGA/GTCCTG 28 I V mis12Minor allele frequency- G:0.01NA EU 5539
    rs1219089551,2
    		Cpathogenic71909727(+) GGCGGC/TGTTTC 28 R C mis11Minor allele frequency- T:0.00NA 4552
    rs1433935751,2
    		Cother71825791(+) TTCTAC/TGAGAT 28 Y syn11Minor allele frequency- T:0.00NA 4552
    rs1458329521,2
    		Cother71895914(+) TATTTC/TCGAAG 28 P S mis10--------
    rs1169848861,2
    		F--71678927(+) TGAACT/CCCTAG 7 -- us2k11Minor allele frequency- C:0.04EA 120
    rs1905706421,2
    		--71678968(+) TTACTA/GTCCTG 7 -- us2k10--------
    rs1824380391,2
    		--71678988(+) TGAGGA/GCTCCC 7 -- us2k10--------
    rs1420183641,2
    		--71678991(+) GGACTC/GCCTGC 7 -- us2k10--------

    HapMap Linkage Disequilibrium report for DYSF (71680753 - 71913898 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for DYSF
         1 CNV: 50552
         2 Indels: 97880 73965
    Human Gene Mutation Database (HGMD): DYSF

    Locus Specific Mutation Databases (LSDB): DYSF

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for DYSF gene

    (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.)
    About This Section
    DYSF for disorders           About GeneDecksing

    OMIM gene information: 603009   
    OMIM disorders: 253601  254130  606768  
    UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923
  • Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]. LGMD2B is 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
  • Defects in DYSF are the cause of Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]. MMD1 is 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. Otherwise the phenotype overlaps with LGMD2B, especially in age at
    onset and creatine kinase elevation
  • Defects in DYSF are the cause of 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

    20/25 diseases for DYSF (see all 25):    About MalaCards
    limb-girdle muscular dystrophy    muscular dystrophy    miyoshi myopathy    limb-girdle muscular dystrophy, type 2b
    myopathy, distal, with anterior tibial onset    myopathy    welander distal myopathy    skeletal muscle regeneration
    distal muscular dystrophy    rippling muscle disease    neuromuscular disease    dysferlinopathy
    sarcoglycanopathies    dystrophinopathies    polymyositis    protein s deficiency
    dilated cardiomyopathy    multiple sclerosis    myositis    addison's disease

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

    10/32 Novoseek 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
    Dysferlinopathy

    Human Genome Epidemiology (HuGE) Navigator: DYSF (2 documents)

    Export disorders for DYSF gene to outside databases

    Publications
    for DYSF gene

    (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)
    About This Section

    PubMed articles for DYSF gene, integrated from 9 sources (see all 221):
    (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. (2007)
    2. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. (PubMed id 15835269)1, 2, 9 Matsuda C.... Hayashi Y.K. (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. (1999)
    4. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. (PubMed id 17363620)1, 2, 9 Klinge L....Bushby K. (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. (2006)
    6. Symptomatic dysferlin gene mutation carriers: characterization of two cases. (PubMed id 17287450)1, 2, 9 Illa I....Gallardo E. (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. (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. (2005)
    9. Developmental and tissue-specific regulation of a novel dysferlin isoform. (PubMed id 15318348)1, 2, 9 Salani S.... Comi G.P. (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. (2003)

    External Searches for DYSF gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DYSF gene

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

    Other Databases showing DYSF gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DYSF gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/DYSF
    Wikipedia http://en.wikipedia.org/wiki/Dysferlin

    Intellectual Property
    for DYSF gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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