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MYOF Gene

protein-coding   GIFtS: 58
GCID: GC10M095057

Myoferlin

(Previous names: fer-1 (C.elegans)-like 3 (myoferlin), fer-1-like 3, myoferlin...)
(Previous symbol: FER1L3)
  See 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
myoferlin1 2     Fer-1-Like 3, Myoferlin (C. Elegans)1
FER1L31 2 3 5     Fer-1-Like 3, Myoferlin2
Fer-1-Like Protein 32 3     KIAA12073
Fer-1 (C.Elegans)-Like 3 (Myoferlin)1     

External Ids:    HGNC: 36561   Entrez Gene: 265092   Ensembl: ENSG000001381197   OMIM: 6046035   UniProtKB: Q9NZM13   

Export aliases for MYOF gene to outside databases

Previous GC identifer: GC10M088693


(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 MYOF Gene:
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both
proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally
similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes.
The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it
may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have
been found for this gene. Other possible variants have been detected, but their full-length nature has not been
determined. (provided by RefSeq, Dec 2008)

GeneCards Summary for MYOF Gene:
MYOF (myoferlin) is a protein-coding gene. Diseases associated with MYOF include kyasanur forest disease, and intestinal neoplasm. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is OTOF.

UniProtKB/Swiss-Prot: MYOF_HUMAN, Q9NZM1
Function: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of
endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic
recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity)

Gene Wiki entry for MYOF (FER1L3) 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:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYOF gene promoter:
         TBP   oct-B2   oct-B3   MAZR   ATF-2   CUTL1   Evi-1   POU2F1   Nkx6-1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOF promoter sequence
   Search Chromatin IP Primers for MYOF

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


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q24

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M095057:  view genomic region     (about GC identifiers)

Start:
95,066,186 bp from pter      End:
95,242,074 bp from pter
Size:
175,889 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: MYOF_HUMAN, Q9NZM1 (See protein sequence)
Recommended Name: Myoferlin  
Size: 2061 amino acids; 234709 Da
Cofactor: Binds calcium ions. The ions are bound to the C2 1 domain (By similarity)
Subunit: Interacts with DNM2 and KDR. Interacts with EHD1 (By similarity). Interacts with EHD2; the interaction is
direct
Sequence caution: Sequence=AAH40110.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAG52097.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for MYOF:
2DMH (3D)        2K2O (3D)    
Secondary accessions: B3KQN5 Q5VWW2 Q5VWW3 Q5VWW4 Q5VWW5 Q7Z642 Q8IWH0 Q9HBU3 Q9NZM0 Q9ULL3
Q9Y4U4
Alternative splicing: 8 isoforms:  Q9NZM1-1   Q9NZM1-2   Q9NZM1-3   Q9NZM1-4   Q9NZM1-5   Q9NZM1-6   Q9NZM1-7   Q9NZM1-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYOF: NX_Q9NZM1

Explore proteomics data for MYOF at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys102
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_038479.1  NP_579899.1  

    ENSEMBL proteins: 
     ENSP00000432708   ENSP00000351094   ENSP00000352208   ENSP00000360544   ENSP00000360543  
     ENSP00000360556   ENSP00000360557  

    MYOF Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYOF

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR012561 Ferlin_B-domain
     IPR006614 Peroxin/Ferlin
     IPR012968 FerIin-domain
     IPR012560 Ferlin_A-domain
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q9NZM1

    ProtoNet protein and cluster: Q9NZM1

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


    UniProtKB/Swiss-Prot: MYOF_HUMAN, Q9NZM1
    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


    MYOF for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYOF_HUMAN, Q9NZM1
    Function: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of
    endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic
    recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity)

         Genatlas biochemistry entry for MYOF:
    myoferlin,expressed in skeletal muscle,heart,lung,located at nuclear and plasma membranes,highly homolog to
    dysferlin

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17185750
    GO:0005543phospholipid binding ISS--
         
    MYOF for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYOF:
     Decreased nuclei size in G2M 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myof):
     cardiovascular system  growth/size/body  muscle 

    MYOF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myoftm1Mcn for MYOF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYOF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MYOF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYOF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYOF

    miRNA
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    miRTarBase miRNAs that target MYOF:
    hsa-mir-34a-5p (MIRT025498)

    Block miRNA regulation of human, mouse, rat MYOF using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MYOF:
    hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidMYOF 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYOF

    Gene Editing
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    OriGene ORF clones in mouse, rat for MYOF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MYOF (NM_013451)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOF

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOF


    (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
    MYOF_HUMAN, Q9NZM1: Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II
    membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note=Concentrated at the
    membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial
    cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in
    undifferentiated myoblasts near the plasma membrane in puncate structures
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    plasma membrane5
    cytosol3
    peroxisome2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS10607832
    GO:0005886plasma membrane IDA--
    GO:0005901caveola ISS--
    GO:0016021integral component of membrane IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--

    MYOF for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYOF
    Interactions:

        Search GeneGlobe Interaction Network for MYOF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for MYOF (Q9NZM12, 3 ENSP000003522084) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3320095 I2D: score=1 STRING: ENSP00000309503
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    EHD2Q9NZN43, ENSP000002632774I2D: score=1 STRING: ENSP00000263277
    DNM2ENSP000003527214STRING: ENSP00000352721
    KDRENSP000002639234STRING: ENSP00000263923
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001778plasma membrane repair ISS--
    GO:0006936muscle contraction TAS10607832
    GO:0008015blood circulation TAS10607832
    GO:0030947regulation of vascular endothelial growth factor receptor signaling pathway IEA--
    GO:0034605cellular response to heat IEA--

    MYOF for ontologies           About GeneDecksing



    (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 MYOF



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYOF gene (2 alternative transcripts): 
    NM_013451.3  NM_133337.2  

    Unigene Cluster for MYOF:

    Myoferlin
    Hs.602086  [show with all ESTs]
    Unigene Representative Sequence: NM_013451
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463743 ENST00000358334 ENST00000359263 ENST00000474161 ENST00000485212
    ENST00000475358 ENST00000371489(uc001kip.4 uc009xuf.2) ENST00000371488
    ENST00000488645 ENST00000371501(uc001kin.3 uc001kio.3) ENST00000371502(uc009xue.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat MYOF using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MYOF:
    hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidMYOF 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MYOF
    Predesigned siRNA for gene silencing in human, mouse, rat MYOF
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    OriGene ORF clones in mouse, rat for MYOF
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    GenScript: all cDNA clones in your preferred vector (see all 2): MYOF (NM_013451)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOF
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MYOF
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat MYOF
      QuantiTect SYBR Green Assays in human, mouse, rat MYOF
      QuantiFast Probe-based Assays in human, mouse, rat MYOF

    Additional mRNA sequence: 

    AB033033.2 AF182316.1 AF207990.1 AK075258.1 AK093890.1 AL096713.1 BC014612.2 BC033616.1 
    BC040110.1 BC052617.1 

    19 DOTS entries:

    DT.315297  DT.100796320  DT.100029166  DT.97765735  DT.100796317  DT.455201  DT.95222163  DT.121222927 
    DT.92455917  DT.102848  DT.121222951  DT.121222954  DT.92019831  DT.92045547  DT.92455916  DT.95350922 
    DT.86843390  DT.92027962  DT.95227029 

    Selected AceView cDNA sequences (see all 343):

    BX489405 BM996921 BQ776339 BI253242 BX509650 BQ005945 BI869297 AI421113 
    CA396043 BM721845 BC052617 CB121038 AA368629 BU740038 T33749 BM977920 
    AI753020 BQ776325 AI827045 BI868759 AW029065 AK075258 CB146503 BQ019857 

    GeneLoc Exon Structure


    (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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    MYOF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTCAAAA
    MYOF Expression
    About this image


    MYOF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
     
     NULL (Uncategorized)
             DKK1-induced cells
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells
     
     Placenta (Extraembryonic Tissues)
    MYOF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYOF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.602086

    UniProtKB/Swiss-Prot: MYOF_HUMAN, Q9NZM1
    Tissue specificity: Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac
    and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOF

    (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 MYOF gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myof1 , 5 myoferlin1, 5 88.57(n)1
    93.99(a)1
      19 (32.53 cM)5
    2261011  NM_001099634.11  NP_001093104.11 
     378990365 
    chicken
    (Gallus gallus)
    Aves MYOF1 myoferlin 76.79(n)
    83.06(a)
      423805  XM_001231545.3  XP_001231546.2 
    lizard
    (Anolis carolinensis)
    Reptilia MYOF6
    myoferlin
    81(a)
    1 ↔ 1
    GL343219.1(2004479-2115738)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.95352 Xenopus laevis transcribed sequence with moderate similarity more 77.97(n)    BJ069137.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635042 hypothetical protein MGC63504 74.56(n)   393849  BC063743.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mfr6
    misfire
    24(a)
    1 → many
    3L(8899017-8905771)
    worm
    (Caenorhabditis elegans)
    Secernentea fer-16
    ferl-16
    Protein FERL-1 (ferl-1) mRNA, complete cds
    24(a)
    20(a)
    many ↔ many
    many ↔ many
    I(8623017-8631184) WBGene00001414
    I(5455730-5459550) WBGene00020262


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYOF gene
    OTOF2  FER1L62  DYSF2  
    2 SIMAP similar genes for MYOF using alignment to 4 protein entries:     MYOF_HUMAN (see all proteins):
    DYSF    FER1L5

    MYOF for paralogs           About GeneDecksing



    (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 MYOF (see all 4496)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs108822171,2
    C,A,H--95065693(+) CCACCG/ACGCCC 2 -- ds50011Minor allele frequency- A:0.00NA 2
    rs1123523761,2
    C,F--95065781(+) GCTCAC/ACACAA 2 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1431820181,2
    --95065830(+) CCTCCC/TGAGTA 2 -- ds50010--------
    rs70982821,2
    C--95065866(+) acaccC/Tggcta 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1816647411,2
    --95065948(+) GATCTG/TCCCGC 2 -- ds50010--------
    rs1385008121,2
    C--95065951(+) CTGCCC/TGCTTC 2 -- ds50010--------
    rs1112455011,2
    C--95065952(+) TGCCCG/ACTTCG 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs27975791,2
    C,F,A,H--95065992(+) GAACCA/GCTCTG 2 -- ds500129Minor allele frequency- G:0.08NS EA NA WA CSA 2498
    rs27975801,2
    C,F,A,H--95066024(+) ATTTAT/CAATGT 2 -- ds500116Minor allele frequency- C:0.06NA WA CSA EA 519
    rs1496347131,2
    --95066189(+) TGTAAA/GGGTGA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MYOF (95066186 - 95242074 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MYOF:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674134CNV Deletion23128226
    esv2739640CNV Deletion23290073
    nsv507571CNV Insertion20534489
    nsv7494CNV Insertion18451855
    nsv24721CNV Loss16902084

    Human Gene Mutation Database (HGMD): MYOF
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYOF
    DNA2.0 Custom Variant and Variant Library Synthesis for MYOF

    (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: 604603    OMIM disorders: --

    11 diseases for MYOF:    
    About MalaCards
    kyasanur forest disease    intestinal neoplasm    miyoshi myopathy    limb-girdle muscular dystrophy, type 2b
    dysferlinopathy    limb-girdle muscular dystrophy    muscular dystrophy    myopathy
    endotheliitis    alzheimer's disease    breast cancer

    1 disease from the University of Copenhagen DISEASES database for MYOF:
    Muscular dystrophy

    MYOF for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for MYOF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    miyoshi myopathy 91.7 1 16707852 (1)
    lgmd2b 90.7 1 11665864 (1)
    muscular dystrophy limb-girdle 83.8 2 16707852 (1), 18495154 (1)
    muscular dystrophies 59.7 5 10607832 (2)

    Genetic Association Database (GAD): MYOF
    Human Genome Epidemiology (HuGE) Navigator: MYOF (6 documents)

    Export disorders for MYOF 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 MYOF gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with MYOF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. (PubMed id 10607832)1, 2, 3, 9 Davis D.B.... McNally E.M. (Hum. Mol. Genet. 2000)
    2. The third human FER-1-like protein is highly similar to dysferlin. (PubMed id 10995573)1, 2, 3, 9 Britton S.... Bashir R. (Genomics 2000)
    3. Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. (PubMed id 17702744)1, 2, 3 Bernatchez P.N.... Sessa W.C. (J. Biol. Chem. 2007)
    4. The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion. (PubMed id 18502764)1, 2, 9 Doherty K.R.... McNally E.M. (J. Biol. Chem. 2008)
    5. Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (PubMed id 18495154)1, 2, 9 Patel P.... Keep N.H. (J. Mol. Biol. 2008)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 26509 HGNC: 3656 AceView: FER1L3 Ensembl:ENSG00000138119 euGenes: HUgn26509
    ECgene: MYOF H-InvDB: MYOF

    (According to HUGE)
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    HUGE: KIAA1207

    (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 MYOF Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for MYOF gene:
    Search GeneIP for patents involving MYOF

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



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