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Aliases for MYF6 Gene

Aliases for MYF6 Gene

  • Myogenic Factor 6 2 3 5
  • Muscle-Specific Regulatory Factor 4 2 3 4
  • Class C Basic Helix-Loop-Helix Protein 4 3 4
  • Myogenic Factor 6 (Herculin) 2 3
  • BHLHc4 3 4
  • Myf-6 3 4
  • MRF4 3 4
  • Herculin 2
  • CNM3 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) is a Protein Coding gene. Diseases associated with MYF6 include Myopathy, Centronuclear, 3 and Myopathy, Centronuclear. Among its related pathways are Developmental Biology and Id Signaling Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA 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

Enhancers for MYF6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYF6 on UCSC Golden Path with GeneCards custom track

Promoters for MYF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYF6 on UCSC Golden Path with GeneCards custom track

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

Genes around MYF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

No data available for DME Specific Peptides for MYF6 Gene

Domains & Families for MYF6 Gene

Gene Families for MYF6 Gene

Suggested Antigen Peptide Sequences for MYF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Human Phenotype Ontology for MYF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYF6 Gene

MGI Knock Outs for MYF6:

Animal Model Products

miRNA for MYF6 Gene

miRTarBase miRNAs that target MYF6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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:0090575 RNA polymerase II transcription factor complex ISS --
genes like me logo Genes that share ontologies with MYF6: view

Pathways & Interactions for MYF6 Gene

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

SIGNOR curated interactions for MYF6 Gene

Is inactivated by:

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 IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007519 skeletal muscle tissue development IEA,TAS 2311584
GO:0042693 muscle cell fate commitment ISS --
genes like me logo Genes that share ontologies with MYF6: view

Drugs & Compounds for MYF6 Gene

(1) Drugs for MYF6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MYF6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYF6: view

Transcripts for MYF6 Gene

mRNA/cDNA for MYF6 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(30) Selected AceView cDNA 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 (x51.1).

Protein differential expression in normal tissues from HIPED for MYF6 Gene

This gene is overexpressed in Fetal Liver (58.1) and Testis (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MYF6: view

Protein tissue co-expression partners for MYF6 Gene

Primer Products

Orthologs for MYF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYF6 Gene

Organism Taxonomy Gene Similarity Type Details
(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)
(Pan troglodytes)
Mammalia MYF6 35
  • 100 (n)
  • 100 (a)
MYF6 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Myf6 35
  • 90.63 (n)
  • 95.45 (a)
(Monodelphis domestica)
Mammalia MYF6 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia MYF6 36
  • 82 (a)
(Gallus gallus)
Aves MYF6 35
  • 80.85 (n)
  • 85.54 (a)
MYF6 36
  • 86 (a)
(Anolis carolinensis)
Reptilia MYF6 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia myf6 35
  • 70.28 (n)
  • 73.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia MRF4 35
(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

(3) 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
VAR_004493 Myopathy, centronuclear, 3 (CNM3)
VAR_004494 Myopathy, centronuclear, 3 (CNM3)
rs12817316 -- 80,709,801(+) AGTTA(A/C)CAATG downstream-variant-500B
rs1047183 -- 80,709,306(+) TGTCT(A/C/G)AAGTG utr-variant-3-prime
rs1047185 -- 80,709,365(+) GTTTA(A/G)CACTT utr-variant-3-prime

Variation tolerance for MYF6 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYF6 Gene

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

MalaCards: The human disease database

(10) MalaCards diseases for MYF6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, 3
  • centronuclear myopathy 3
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
  • rhabdomyosarcoma with ganglionic differentiation
central nervous system mesenchymal non-meningothelial tumor
  • non-meningothelial mesenchymal tumor
skeletal muscle cancer
  • malignant tumor of skeletal muscle
- elite association - COSMIC cancer census association via MalaCards
Search MYF6 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for MYF6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MYF6: view

No data available for Genatlas for MYF6 Gene

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 67
  2. The myogenic basic helix-loop-helix family of transcription factors shows similar requirements for SWI/SNF chromatin remodeling enzymes during muscle differentiation in culture. (PMID: 12105204) Roy K. … Imbalzano A.N. (J. Biol. Chem. 2002) 3 23
  3. Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD. (PMID: 9234731) Kong Y. … Konieczny S.F. (Mol. Cell. Biol. 1997) 3 23
  4. The four human muscle regulatory helix-loop-helix proteins Myf3-Myf6 exhibit similar hetero-dimerization and DNA binding properties. (PMID: 1945842) Braun T. … Arnold H.H. (Nucleic Acids Res. 1991) 3 23
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3

Products for MYF6 Gene

Sources for MYF6 Gene