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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 Conventional Leiomyosarcoma. Among its related pathways are Immune response Function of MEF2 in T lymphocytes and Myogenesis. 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 MYOG.

UniProtKB/Swiss-Prot for MYF6 Gene

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

Additional gene information for MYF6 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H080683 0.6 ENCODE dbSUPER 12 -23.4 -23414 1 POU5F1 MYF6 MYF5 GC12M080674 ENSG00000257429
GH12H080706 0.9 ENCODE dbSUPER 0.7 +1.8 1803 6 CTCF TRIM22 CEBPB RAD21 POLR2A ZNF143 SMC3 EZH2 MYF6 MYF5
GH12H080712 1 Ensembl ENCODE dbSUPER 0.4 +8.5 8507 6 GATA3 CUX1 YY1 ENSG00000258044 MYF5 MYF6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000054567 1002 201 POLR2A EZH2

Genomic Location for MYF6 Gene

Chromosome:
12
Start:
80,707,498 bp from pter
End:
80,709,478 bp from pter
Size:
1,981 bases
Orientation:
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:
    P23409-MYF6_HUMAN
    Recommended name:
    Myogenic factor 6
    Protein Accession:
    P23409
    Secondary Accessions:
    • B2R898
    • Q53X80
    • Q6FHI9

    Protein attributes for MYF6 Gene

    Size:
    242 amino acids
    Molecular mass:
    26953 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Interacts with CSRP3.

neXtProt entry for MYF6 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for MYF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MYF6 Gene

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 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA,IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 2311584
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IBA --
genes like me logo Genes that share ontologies with MYF6: view
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

CRISPR Products

miRNA for MYF6 Gene

miRTarBase miRNAs that target MYF6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYF6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYF6 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYF6 Gene

Pathways & Interactions for MYF6 Gene

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

Pathways by source for MYF6 Gene

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:0006357 regulation of transcription from RNA polymerase II promoter TAS 2311584
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MYF6: view

Drugs & Compounds for MYF6 Gene

(2) Drugs for MYF6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYF6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for MYF6 Gene

GeneLoc Exon Structure for
MYF6
ECgene alternative splicing isoforms for
MYF6

Expression for MYF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for MYF6 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYF6 Gene:

MYF6

SOURCE GeneReport for Unigene cluster for MYF6 Gene:

Hs.35937

mRNA Expression by UniProt/SwissProt for MYF6 Gene:

P23409-MYF6_HUMAN
Tissue specificity: Skeletal muscle.

Evidence on tissue expression from TISSUES for MYF6 Gene

  • Muscle(4.8)
  • Eye(3.9)
  • Nervous system(3.5)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYF6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • tongue
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MYF6: view

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
chimpanzee
(Pan troglodytes)
Mammalia MYF6 34 33
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYF6 33 34
  • 93.8 (n)
mouse
(Mus musculus)
Mammalia Myf6 33 16 34
  • 91.6 (n)
rat
(Rattus norvegicus)
Mammalia Myf6 33
  • 90.63 (n)
dog
(Canis familiaris)
Mammalia MYF6 33 34
  • 88.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYF6 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYF6 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYF6 33 34
  • 80.85 (n)
lizard
(Anolis carolinensis)
Reptilia MYF6 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myf6 33
  • 70.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia MRF4 33
zebrafish
(Danio rerio)
Actinopterygii myf6 33 34
  • 66.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta nau 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 14 (a)
OneToMany
Species where no ortholog for MYF6 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for MYF6 (if available)
TreeFam:
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
rs138296448 Myopathy, centronuclear, 3 (CNM3) [MIM:614408] 80,707,988(+) ATCTG(A/C)CCCCA upstream-variant-2KB, reference, missense
rs28928909 Pathogenic, Myopathy, centronuclear, 3 (CNM3) [MIM:614408] 80,708,053(+) ACGAG(G/T)CCTTC upstream-variant-2KB, reference, missense
rs1185873 Likely benign 80,707,619(+) GGGTC(A/G)ACTTA upstream-variant-2KB
rs3120 Likely benign 80,709,112(+) AGAAA(A/C)GTTGC upstream-variant-2KB, utr-variant-3-prime
rs886038511 Likely benign 80,707,854(+) TGCCA(A/G)GACCA upstream-variant-2KB, reference, synonymous-codon

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)
MYF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYF6

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

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

Disorder Aliases PubMed IDs
myopathy, centronuclear, 3
  • centronuclear myopathy 3
conventional leiomyosarcoma
centronuclear myopathy, autosomal, modifier of
  • myopathy, centronuclear 1
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

UniProtKB/Swiss-Prot

MYF6_HUMAN
  • 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)
MYF6
Human Genome Epidemiology (HuGE) Navigator
MYF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYF6
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 (Cytogenetics and cell genetics 1996) 2 3 22 60
  2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 45 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. 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 AN (The Journal of biological chemistry 2002) 3 22 60
  5. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. (PMID: 11053684) Kerst B … Hübner C (Neuromuscular disorders : NMD 2000) 3 4 60

Products for MYF6 Gene

Sources for MYF6 Gene

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