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

MYF6 Gene

protein-coding   GIFtS: 56
GCID: GC12P081076

myogenic factor 6 (herculin)
 Explore 14 diseases affiliated with
MYF6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYF6    

Aliases
for MYF6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myogenic Factor 6 (Herculin)1 2     CNM32
MRF41 2 3     Myf-63
BHLHc41     Myogenic Factor 62
Class C Basic Helix-Loop-Helix Protein 42 3     BHLHC43
Muscle-Specific Regulatory Factor 42 3     Myf-63

External Ids:    HGNC: 75661   Entrez Gene: 46182   Ensembl: ENSG000001110467   OMIM: 1599915   UniProtKB: P234093   

Export aliases for MYF6 gene to outside databases

Previous GC identifers: GC12P081465 GC12P079603 GC12P078158


Summaries
for MYF6 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 MYF6:
The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle
differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are
a cause of autosomal dominant centronuclear myopathy (ADCNM). (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: MYF6_HUMAN, P23409
Function: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts.
Probable sequence specific DNA-binding protein




Genomic Views
for MYF6 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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYF6 gene promoter:
         AML1a   MyoD   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYF6 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYF6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYF6


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

Entrez Gene cytogenetic band: 12q21   Ensembl cytogenetic band:  12q21.31   HGNC cytogenetic band: 12q21

MYF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYF6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P081076:  view genomic region     (about GC identifiers)

Start:
 81,101,277 bp from pter      End:
 81,103,257 bp from pter
Size:
 1,981 bases      Orientation:
 plus strand

Proteins
for MYF6 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: MYF6_HUMAN, P23409 (See protein sequence)
Recommended Name: Myogenic factor 6  
Size: 242 amino acids; 26953 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus
Secondary accessions: B2R898 Q53X80 Q6FHI9

Explore the universe of human proteins at neXtProt for MYF6: NX_P23409

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23409

    • MYF6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002460.1  
    ENSEMBL proteins: 
     ENSP00000228641  
    Reactome Protein details: P23409
    Human Recombinant Protein Products: 
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    Novus Biologicals MYF6 Proteins
    Novus Biologicals MYF6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MYF6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS2311584
    GO:0005654nucleoplasm TAS--


    MYF6 for ontologies           About GeneDecksing



    MYF6 Antibody Products: 
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    Uscn ELISAs and CLIAs for MYF6

    Protein Domains /
    Families
    for MYF6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYF6 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002546 Basic
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry P23409

    ProtoNet protein and cluster: P23409

    2 Blocks protein families:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB002546 Myogenic basic muscle-specific protein


    UniProtKB/Swiss-Prot: MYF6_HUMAN, P23409
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Function
    for MYF6 gene

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

         UniProtKB/Swiss-Prot: MYF6_HUMAN, P23409
    Function: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts.
    Probable sequence specific DNA-binding protein

         Genatlas biochemistry entry for MYF6:
    myogenic factor 6,transcription activator

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYF6
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MYF6:
    hsa-miR-299-5p hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmid: MYF6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYF6 (see all 7)
    OriGene shRNA RFP: MYF6
    OriGene siRNA: MYF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYF6

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYF6 

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    Search LifeMap BioReagents cell lines for MYF6

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYF6

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS2311584
    GO:0046982protein heterodimerization activity ISS--
    GO:0070888contributes to E-box binding ISS--


    MYF6 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for MYF6: Myf6tm1Eno Myf6tm1Thbr Myf6tm1Wb
         12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Myf6):
     adipose tissue  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  no phenotypic analysis  normal  respiratory system  skeleton 
     tumorigenesis  vision/eye 

    MYF6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MYF6 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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    		Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis1.00
    		Development_Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis0.97
    2Activation of p38 alpha/beta MAPK
    		CDO in myogenesis0.55
    		Myogenesis0.55
    3Diurnally regulated genes with circadian orthologs
    		Diurnally regulated genes with circadian orthologs1.00
    4C-MYB transcription factor network
    		C-MYB transcription factor network1.00
    5Id Signaling Pathway
    		Id Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MYF6
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis


    1 GeneGo (Thomson Reuters) Pathway for MYF6
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis

    3 BioSystems Pathways for MYF6 
        Diurnally regulated genes with circadian orthologs
    Id Signaling Pathway
    C-MYB transcription factor network

    3        Reactome Pathways for MYF6
        Developmental Biology
    Myogenesis
    CDO in myogenesis



    MYF6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/22 Interacting proteins for MYF6 (P234093 ENSP000002286414) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=6 STRING: ENSP00000349467
    CALM2P621583I2D: score=6 
    CALM3P621583I2D: score=6 
    ID3Q025353, ENSP000003636894I2D: score=3 STRING: ENSP00000363689
    CSRP3P504613, ENSP000002659684I2D: score=2 STRING: ENSP00000265968
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001756somitogenesis IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS2311584
    GO:0007519skeletal muscle tissue development TAS2311584
    GO:0042692muscle cell differentiation TAS--
    GO:0042693muscle cell fate commitment ISS--


    MYF6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYF6 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

    MYF6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MYF6
    2 Novoseek chemical compound relationships for MYF6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 37.8 5 9268324 (2), 8384125 (1), 14662021 (1), 7565669 (1)
    creatinine 22.4 8 1658626 (2), 12783039 (2), 1847137 (1), 11600695 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about MYF6 

    Transcripts
    for MYF6 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, 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 MYF6 gene: 
    NM_002469.2  

    Unigene Cluster for MYF6:

    Myogenic factor 6 (herculin)
    Hs.35937  [show with all ESTs]
    Unigene Representative Sequence: NM_002469
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000228641(uc001szf.2)

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MYF6:
    hsa-miR-299-5p hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmid: MYF6 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYF6 (see all 7)
    OriGene shRNA RFP: MYF6
    OriGene siRNA: MYF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYF6
    Clone
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    GenScript: all cDNA clones in your preferred vector: MYF6 (NM_002469)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYF6

    Additional cDNA sequence: 

    AK313287.1 BC017834.1 CR407641.1 CR541763.1 X52011.1 

    1 DOTS entry:

    DT.111894 

    24/30 AceView cDNA sequences (see all 30):

    AA228129 F24904 BC017834 CR407641 F36991 AA227981 X52011 BX501384 
    NM_002469 AA026188 AW043717 AI672027 AA194572 CR541763 BX282108 BV198492 
    BV203083 BF439482 AA026129 F33189 F00319 AI190383 AA010958 BF126314 

    GeneLoc Exon Structure


    Expression
    for MYF6 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

    MYF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYF6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/54 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 54) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Dorsal MusclesMyoblastsSkeletal Muscle
    LimbForelimb Ventral MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMyoblastsSkeletal Muscle
    LimbHindlimb Dorsal MuscleMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMyoblastsSkeletal Muscle
    LimbHindlimb Ventral MuscleMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMyoblastsSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMononuclear MyocyteSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MYF6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYF6

    SOURCE GeneReport for Unigene cluster: Hs.35937

    UniProtKB/Swiss-Prot: MYF6_HUMAN, P23409
    Tissue specificity: Skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including MYF6: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYF6

    Orthologs
    for MYF6 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 MYF6 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MYF61 myogenic factor 6 (herculin) 80.85(n)
    85.54(a)    		   417873  NM_001030746.1  NP_001025917.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MYF66
    		 --
    		 66(a)
    		 1 ↔ 1
    		 5(37037493-37045900)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MRF42 MRF4 [Xenopus laevis, mRNA, 942 nt] 75.03(n)    S34392.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii myf61 myogenic factor 6 66.52(n)
    65.67(a)    		   404208  NM_001003982.1  NP_001003982.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta nau6
    		 nautilus
    		 24(a)
    		 1 → many
    		 3R(19538536-19544079)
    worm
    (Caenorhabditis elegans)    		 Secernentea hlh-16
    		 Myoblast determination protein 1 homolog
    		 21(a)
    		 1 → many
    		 II(4518557-4522454)


    ENSEMBL Gene Tree for MYF6 (if available)
    TreeFam Gene Tree for MYF6 (if available) 

    Paralogs
    for MYF6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYF6 gene
    MYF52  MYOD12  MYOG2  
    3 SIMAP similar genes for MYF6 using alignment to 1 protein entry:     MYF6_HUMAN:
    MYF5    MYF4    MYOG

    MYF6 for paralogs           About GeneDecksing



    Genomic Variants
    for MYF6 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

    10/68 NCBI SNPs in MYF6 are shown (see all 68)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289289091,2
    		C,F,pathogenic134721018(+) ACGAGG/TCCTTC 2 A S mis1 ese34Minor allele frequency- T:0.00NA EU 5209
    rs1177572191,2
    		C,F,--78156878(+) TGAAAG/AGAAGG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs170071751,2
    		C,F,H,--78157259(+) AAGCTG/ACAATT 1 -- us2k18Minor allele frequency- A:0.05NA NS EA WA 680
    rs760498871,2
    		--78157367(+) CAAAAG/TAAAAA 1 -- us2k10--------
    rs73012761,2
    		C,F,H,--78158107(+) CTCTGT/CGTAAC 1 -- us2k117Minor allele frequency- C:0.06NS EA NA CSA WA 2222
    rs11858731,2
    		C,F,O,H,--78158282(+) GGGTCG/AACTTA 1 -- us2k122Minor allele frequency- A:0.13MN NA NS EA WA CSA 2066
    rs73131141,2
    		C,H,--78158298(+) CTGCAC/GTAATT 1 -- ut515Minor allele frequency- G:0.00NS EA WA 536
    rs733551701,2
    		C,--78159061(+) GACCGG/AGTGCT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs11632521,2
    		C,H,--78160610(+) AGTGTG/AGATCT 1 -- ds50017Minor allele frequency- A:0.02NS EA NA WA 424
    rs1875319701,2
    		--81099589(+) TTGGCC/TTCTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYF6 (81101277 - 81103257 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MYF6: --
    Human Gene Mutation Database (HGMD): MYF6

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    Disorders / Diseases
    for MYF6 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
    MYF6 for disorders           About GeneDecksing

    OMIM gene information: 159991   
    OMIM disorders: 160150  300376  
    UniProtKB/Swiss-Prot: MYF6_HUMAN, P23409
  • Defects in MYF6 may be a cause of centronuclear myopathy type 3 (CNM3) [MIM:614408]. A congenital muscle
    • disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck
    muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become
    evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic
    features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial
    arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers

    14 diseases for MYF6:    About MalaCards
    centronuclear myopathy    myopathy    becker muscular dystrophy modifier    becker muscular dystrophy
    alveolar soft part sarcoma    extraosseous ewing's sarcoma    muscular dystrophy    myasthenia gravis
    rhabdoid tumors    myasthenia    muscle disorders    rhabdomyosarcoma
    ptosis    sarcoma

    1 disease from the University of Copenhagen DISEASES database for MYF6:
    Rhabdomyosarcoma

    4 Novoseek disease relationships for MYF6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyosarcoma 56.9 1 1764365 (1)
    hypertrophy 33.5 2 12716875 (1), 10370140 (1)
    atrophy 8.59 2 19696363 (1), 9460713 (1)
    tumors 0 1 1717137 (1)

    Human Genome Epidemiology (HuGE) Navigator: MYF6 (2 documents)

    Export disorders for MYF6 gene to outside databases

    Publications
    for MYF6 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 MYF6 gene, integrated from 9 sources (see all 123):
    (articles sorted by number of sources associating them with MYF6)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106. (PubMed id 8978788)1, 3, 9 Cupelli L....Krauter K. (1996)
    2. 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. (2004)
    3. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. (PubMed id 11053684)1, 2 Kerst B....Huebner C. (2000)
    4. Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12. (PubMed id 2311584)1, 2 Braun T.... Arnold H.H. (1990)
    5. The myogenic basic helix-loop-helix family of transcription factors shows similar requirements for SWI/SNF chromatin remodeling enzymes during muscle differentiation in culture. (PubMed id 12105204)1, 9 Roy K....Imbalzano A.N. (2002)
    6. Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD. (PubMed id 9234731)1, 9 Kong Y....Konieczny S.F. (1997)
    7. The four human muscle regulatory helix-loop-helix proteins Myf3-Myf6 exhibit similar hetero-dimerization and DNA binding properties. (PubMed id 1945842)1, 9 Braun T. and Arnold H.H. (1991)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1 Yerges L.M....Zmuda J.M. (2009)
    9. Efficacy of 3 days/wk resistance training on myofiber hypertrophy and myogenic mechanisms in young vs. older adults. (PubMed id 16614355)1 Kosek D.J....Bamman M.M. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    External Searches for MYF6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing MYF6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4618 HGNC: 7566 AceView: MYF6 Ensembl:ENSG00000111046 euGenes: HUgn4618
    ECgene: MYF6 H-InvDB: MYF6

    Other Databases showing MYF6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MYF6 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 MYF6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MYF6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MYF6 gene:
    Search GeneIP for patents involving MYF6

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