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] See more...

Aliases for MYF6 Gene

Aliases for MYF6 Gene

  • Myogenic Factor 6 2 3 4 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
  • BHLHC4 4
  • 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, 1 and Centronuclear Myopathy. Among its related pathways are C-MYB transcription factor network and Myogenesis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MYF5.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MYF6 Gene

Genomics for MYF6 Gene

GeneHancer (GH) Regulatory Elements for MYF6 Gene

Promoters and enhancers for MYF6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J080706 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.7 +1.7 1671 6 CTCF TRIM22 RXRA SMC3 RAD21 CEBPB TCF12 ETS1 JUND RNF2 MYF6 HSALNG0092692
GH12J080683 Enhancer 0.7 ENCODE dbSUPER 12 -23.5 -23544 1.5 TEAD4 POLR2A NANOG TCF12 CHD7 EP300 TBP SP1 POU5F1 RBBP5 MYF6 MYF5 L13713-054
GH12J080675 Enhancer 0.5 Ensembl dbSUPER 10.9 -31.5 -31528 0.2 CTCF RAD21 MYF6 MYF5 L13713-054 PTPRQ
GH12J080697 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 -6.2 -6214 8.3 EP300 FOS POLR2A FOXA2 GABPA ZBTB33 ZBTB11 JUND BATF STAT3 MYF5 MYF6 L13713-054
GH12J080712 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 0.4 +9.0 8988 7.6 CUX1 GATA3 TBP EZH2 SUZ12 YY1 HSALNG0092692 MYF5 ENSG00000258044 MYF6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYF6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYF6

Top Transcription factor binding sites by QIAGEN in the MYF6 gene promoter:
  • AML1a
  • MyoD
  • RSRFC4

Genomic Locations for MYF6 Gene

Genomic Locations for MYF6 Gene
chr12:80,707,629-80,709,478
(GRCh38/hg38)
Size:
1,850 bases
Orientation:
Plus strand
chr12:81,101,277-81,103,257
(GRCh37/hg19)
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

Protein Domains for MYF6 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • Myogenic basic muscle-specific protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYF6 Gene

GenScript: Design optimal peptide antigens:
  • Muscle-specific regulatory factor 4 (MYF6_HUMAN)
genes like me logo Genes that share domains with MYF6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYF6 Gene

Function for MYF6 Gene

Molecular function for MYF6 Gene

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

Gene Ontology (GO) - Molecular Function for MYF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 2311584
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:
  • Myf6 Myf6<tm1Wb>
  • Myf6 Myf6<tm1Eno>
  • Myf6 Myf6<tm1Tajb>
  • Myf6 Myf6<tm1.1(cre/ERT2)Lepr>
  • Myf6 Myf6<tm1Thbr>

Animal Model Products

CRISPR Products

miRNA for MYF6 Gene

miRTarBase miRNAs that target MYF6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYF6

Clone Products

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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MYF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,TAS 21873635
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

PathCards logo

SuperPathways for MYF6 Gene

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

Pathways by source for MYF6 Gene

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

SIGNOR curated interactions for MYF6 Gene

Activates:
Is activated by:
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 by RNA polymerase II TAS 2311584
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ 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 :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYF6

Clone Products

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

No ASD Table

Relevant External Links for MYF6 Gene

GeneLoc Exon Structure for
MYF6

Expression for MYF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for MYF6 Gene



Protein tissue co-expression partners for MYF6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYF6 31 30
  • 93.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myf6 17 31 30
  • 91.6 (n)
rat
(Rattus norvegicus)
Mammalia Myf6 30
  • 90.63 (n)
dog
(Canis familiaris)
Mammalia MYF6 31 30
  • 88.98 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYF6 31
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYF6 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYF6 31 30
  • 80.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYF6 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myf6 30
  • 70.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia MRF4 30
zebrafish
(Danio rerio)
Actinopterygii myf6 31 30
  • 66.81 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nau 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-1 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYF6: view image

Paralogs for MYF6 Gene

Paralogs for MYF6 Gene

(3) SIMAP similar genes for MYF6 Gene using alignment to 1 proteins:

  • MYF6_HUMAN
genes like me logo Genes that share paralogs with MYF6: view

Variants for MYF6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYF6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
566144 Uncertain Significance: Myopathy, centronuclear, 3 80,708,563(+) T/A MISSENSE_VARIANT
578567 Uncertain Significance: Myopathy, centronuclear, 3 80,708,591(+) G/A MISSENSE_VARIANT
658350 Uncertain Significance: Myopathy, centronuclear, 3 80,707,798(+) G/A MISSENSE_VARIANT
rs1047183 Uncertain Significance: Centronuclear Myopathy, Dominant. Likely Benign: Centronuclear Myopathy, Dominant 80,709,306(+) A/CA/G THREE_PRIME_UTR_VARIANT
rs1047185 Benign: Centronuclear Myopathy, Dominant 80,709,365(+) A/G THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for MYF6 Gene

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)

Additional Variant Information for MYF6 Gene

Human Gene Mutation Database (HGMD)
MYF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYF6

SNP Genotyping and Copy Number Assay Products

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

(16) MalaCards diseases for MYF6 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, 1
  • cnm1
centronuclear myopathy
  • myotubular myopathy
myopathy
  • muscular diseases
rhabdomyosarcoma
conventional leiomyosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MYF6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYF6

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

No data available for UniProtKB/Swiss-Prot and 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 23 54
  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 41 54
  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 54
  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 23 54
  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 54

Products for MYF6 Gene

Sources for MYF6 Gene