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Aliases for MYF6 Gene

Aliases for MYF6 Gene

  • Myogenic Factor 6 (Herculin) 2 3
  • Muscle-Specific Regulatory Factor 4 2 3 4
  • Class C Basic Helix-Loop-Helix Protein 4 3 4
  • BHLHc4 3 4
  • Myf-6 3 4
  • CNM3 3 6
  • MRF4 3 4
  • Myogenic Factor 6 3

External Ids for MYF6 Gene

Previous GeneCards Identifiers for MYF6 Gene

  • GC12P081076
  • GC12P081465
  • GC12P079603
  • GC12P078158

Summaries for MYF6 Gene

Entrez Gene Summary for MYF6 Gene

  • 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]

GeneCards Summary for MYF6 Gene

MYF6 (Myogenic Factor 6 (Herculin)) is a Protein Coding gene. Diseases associated with MYF6 include myopathy, centronuclear, 3 and myopathy, centronuclear. Among its related pathways are L1CAM interactions and Diurnally regulated genes with circadian orthologs. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and E-box binding. An important paralog of this gene is MYOD1.

UniProtKB/Swiss-Prot for MYF6 Gene

  • Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYF6 Gene

Genomics for MYF6 Gene

Regulatory Elements for MYF6 Gene

Genomic Location for MYF6 Gene

80,707,498 bp from pter
80,709,478 bp from pter
1,981 bases
Plus strand

Genomic View for MYF6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYF6 Gene

Proteins for MYF6 Gene

  • Protein details for MYF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Myogenic factor 6
    Protein Accession:
    Secondary Accessions:
    • B2R898
    • Q53X80
    • Q6FHI9

    Protein attributes for MYF6 Gene

    242 amino acids
    Molecular mass:
    26953 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein

neXtProt entry for MYF6 Gene

Proteomics data for MYF6 Gene at MOPED

Post-translational modifications for MYF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYF6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYF6 Gene

Domains for MYF6 Gene

Gene Families for MYF6 Gene

  • bHLH :Basic helix-loop-helix proteins

Suggested Antigen Peptide Sequences for MYF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P23409
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with MYF6: view

Function for MYF6 Gene

Molecular function for MYF6 Gene

GENATLAS Biochemistry: myogenic factor 6,transcription activator
UniProtKB/Swiss-Prot Function: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein

Gene Ontology (GO) - Molecular Function for MYF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA --
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IBA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 2311584
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with MYF6: view
genes like me logo Genes that share phenotypes with MYF6: view

Animal Models for MYF6 Gene

MGI Knock Outs for MYF6:

miRNA for MYF6 Gene

miRTarBase miRNAs that target MYF6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MYF6 Gene

Localization for MYF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYF6 Gene

Subcellular locations from

Jensen Localization Image for MYF6 Gene COMPARTMENTS Subcellular localization image for MYF6 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for MYF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 2311584
GO:0005654 nucleoplasm TAS --
GO:0090575 RNA polymerase II transcription factor complex ISS --
genes like me logo Genes that share ontologies with MYF6: view

Pathways for MYF6 Gene

genes like me logo Genes that share pathways with MYF6: view

Gene Ontology (GO) - Biological Process for MYF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 2311584
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0007517 muscle organ development --
genes like me logo Genes that share ontologies with MYF6: view

Compounds for MYF6 Gene

(2) Novoseek inferred chemical compound relationships for MYF6 Gene

Compound -log(P) Hits PubMed IDs
acetylcholine 37.8 5
creatinine 22.4 8
genes like me logo Genes that share compounds with MYF6: view

Transcripts for MYF6 Gene

mRNA/cDNA for MYF6 Gene

(30) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYF6 Gene

Myogenic factor 6 (herculin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYF6 Gene

No ASD Table

Relevant External Links for MYF6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYF6 Gene

mRNA expression in normal human tissues for MYF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYF6 Gene

This gene is overexpressed in Muscle - Skeletal (51.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYF6 Gene

SOURCE GeneReport for Unigene cluster for MYF6 Gene Hs.35937

mRNA Expression by UniProt/SwissProt for MYF6 Gene

Tissue specificity: Skeletal muscle
genes like me logo Genes that share expressions with MYF6: view

Orthologs for MYF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYF6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MYF6 35
  • 100 (n)
  • 100 (a)
MYF6 36
  • 100 (a)
(Bos Taurus)
Mammalia MYF6 35
  • 93.8 (n)
  • 98.35 (a)
MYF6 36
  • 98 (a)
(Canis familiaris)
Mammalia MYF6 35
  • 88.98 (n)
  • 94.63 (a)
MYF6 36
  • 94 (a)
(Mus musculus)
Mammalia Myf6 35
  • 91.6 (n)
  • 95.45 (a)
Myf6 16
Myf6 36
  • 95 (a)
(Monodelphis domestica)
Mammalia MYF6 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia MYF6 36
  • 82 (a)
(Rattus norvegicus)
Mammalia Myf6 35
  • 90.63 (n)
  • 95.45 (a)
(Gallus gallus)
Aves MYF6 35
  • 80.85 (n)
  • 85.54 (a)
MYF6 36
  • 86 (a)
(Anolis carolinensis)
Reptilia MYF6 36
  • 69 (a)
African clawed frog
(Xenopus laevis)
Amphibia MRF4 35
tropical clawed frog
(Silurana tropicalis)
Amphibia myf6 35
  • 70.28 (n)
  • 73.75 (a)
(Danio rerio)
Actinopterygii myf6 35
  • 66.81 (n)
  • 64.81 (a)
myf6 36
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta nau 36
  • 27 (a)
(Caenorhabditis elegans)
Secernentea hlh-1 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
Species with no ortholog for MYF6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYF6 Gene

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

Paralogs for MYF6 Gene

Paralogs for MYF6 Gene

Selected SIMAP similar genes for MYF6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYF6: view

Variants for MYF6 Gene

Sequence variations from dbSNP and Humsavar for MYF6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs3120 -- 80,709,112(+) AGAAA(A/C)GTTGC utr-variant-3-prime
rs3121 -- 80,709,142(+) GTGCA(C/T)GCTCA utr-variant-3-prime
rs1047183 -- 80,709,306(+) TGTCT(A/G)AAGTG utr-variant-3-prime
rs1047185 -- 80,709,365(+) GTTTA(A/G)CACTT utr-variant-3-prime
rs1163252 -- 80,709,947(+) AGTGT(A/G)GATCT downstream-variant-500B

Relevant External Links for MYF6 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MYF6 Gene

Disorders for MYF6 Gene

(1) OMIM Diseases for MYF6 Gene (159991)


  • Myopathy, centronuclear, 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. {ECO:0000269 PubMed:11053684, ECO:0000269 Ref.7}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MYF6 Gene

(4) Novoseek inferred disease relationships for MYF6 Gene

Disease -log(P) Hits PubMed IDs
rhabdomyosarcoma 56.9 1
hypertrophy 33.5 2
atrophy 8.59 2
tumors 0 1

Relevant External Links for MYF6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MYF6: view

Publications for MYF6 Gene

  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. (PMID: 8978788) Cupelli L. … Krauter K. (Cytogenet. Cell Genet. 1996) 2 3 23
  2. Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12. (PMID: 2311584) Braun T. … Arnold H.H. (EMBO J. 1990) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. (PMID: 11053684) Kerst B. … Huebner C. (Neuromuscul. Disord. 2000) 3 4
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 48

Products for MYF6 Gene

Sources for MYF6 Gene

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