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MYF6 myogenic factor 6 [ Homo sapiens (human) ]

Gene ID: 4618, updated on 3-May-2025
Official Symbol
MYF6provided by HGNC
Official Full Name
myogenic factor 6provided by HGNC
Primary source
HGNC:HGNC:7566
See related
Ensembl:ENSG00000111046 MIM:159991; AllianceGenome:HGNC:7566
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNM3; MRF4; myf-6; bHLHc4
Summary
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]
Expression
Biased expression in prostate (RPKM 5.4) and esophagus (RPKM 2.8) See more
Orthologs
mouse all
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See MYF6 in Genome Data Viewer
Location:
12q21.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (80707634..80709474)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (80686341..80688181)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81101413..81103253)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type Q Neighboring gene uncharacterized LOC124902975 Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7448 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:81026458-81027020 Neighboring gene Sharpr-MPRA regulatory region 15034 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:81077757-81078395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:81101213-81102122 Neighboring gene myogenic factor 5 Neighboring gene long intergenic non-protein coding RNA 1490

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Expression of the muscle-associated gene MYF6 in hairy cell leukemia. Arons E, et al. PLoS One, 2020. PMID 32040482, Free PMC Article
  2. The four human muscle regulatory helix-loop-helix proteins Myf3-Myf6 exhibit similar hetero-dimerization and DNA binding properties. Braun T, et al. Nucleic Acids Res, 1991 Oct 25. PMID 1945842, Free PMC Article
  3. 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. Cupelli L, et al. Cytogenet Cell Genet, 1996. PMID 8978788
  4. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Kerst B, et al. Neuromuscul Disord, 2000 Dec. PMID 11053684
  5. Posttranscriptional regulation of human ADH5/FDH and Myf6 gene expression by upstream AUG codons. Kwon HS, et al. Arch Biochem Biophys, 2001 Feb 15. PMID 11368338

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hypomethylation status of MYF6 supported expression in Hairy cell leukemia more than Hairy cell leukemia variant.
    Title: Expression of the muscle-associated gene MYF6 in hairy cell leukemia.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
  3. The myogenic basic helix-loop-helix family of transcription factors, MyoD, Myf5, myogenin, and MRF4, can each activate the muscle differentiation program.
    Title: The myogenic basic helix-loop-helix family of transcription factors shows similar requirements for SWI/SNF chromatin remodeling enzymes during muscle differentiation in culture.
  4. Myogenin and myogenic differentiation factor D (MyoD) mRNAs increased (P < 0.05) in young and old, whereas myogenic factor (myf)-5 mRNA increased in young only (P < 0.05). Myf-6 protein increased (P < 0.05) in both young and old.
    Title: Efficacy of 3 days/wk resistance training on myofiber hypertrophy and myogenic mechanisms in young vs. older adults.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
contributes_to E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of myoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of skeletal muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in skeletal muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue development TAS
Traceable Author Statement
more info
 PubMed 
involved_in skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within somitogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
Preferred Names
myogenic factor 6
Names
class C basic helix-loop-helix protein 4
muscle-specific regulatory factor 4
myogenic factor 6 (herculin)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021392.1 RefSeqGene

    Range
    5006..6846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002469.3 → NP_002460.1  myogenic factor 6

    See identical proteins and their annotated locations for NP_002460.1

    Status: REVIEWED

    Source sequence(s)
    AA176491, BC017834, DA899591
    Consensus CDS
    CCDS9019.1
    UniProtKB/Swiss-Prot
    B2R898, P23409, Q53X80, Q6FHI9
    Related
    ENSP00000228641.3, ENST00000228641.4
    Conserved Domains (2) summary
    cd18934
    Location:93 → 156
    bHLH_TS_MRF4_Myf6; basic helix-loop-helix (bHLH) domain found in muscle-specific regulatory factor 4 (MRF4) and similar proteins
    cl11603
    Location:3 → 98
    Basic; Myogenic Basic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    80707634..80709474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    80686341..80688181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23409.1 GenPept UniProtKB/Swiss-Prot:P23409

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