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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
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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

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

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_002469.3NP_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:93156
    bHLH_TS_MRF4_Myf6; basic helix-loop-helix (bHLH) domain found in muscle-specific regulatory factor 4 (MRF4) and similar proteins
    cl11603
    Location:398
    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)