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MYF5 myogenic factor 5 [ Homo sapiens (human) ]

Gene ID: 4617, updated on 5-Jul-2025
Official Symbol
MYF5provided by HGNC
Official Full Name
myogenic factor 5provided by HGNC
Primary source
HGNC:HGNC:7565
See related
Ensembl:ENSG00000111049 MIM:159990; AllianceGenome:HGNC:7565
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EORVA; bHLHc2
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including positive regulation of transcription by RNA polymerase II; skeletal system morphogenesis; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Low expression observed in reference dataset See more
Orthologs
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See MYF5 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 (80716912..80719671)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (80695622..80698381)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81110691..81113450)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type Q 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 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:81171500-81172699 Neighboring gene long intergenic non-protein coding RNA 1490 Neighboring gene lin-7 cell polarity scaffold A Neighboring gene microRNA 617

  • 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 animal organ development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within muscle organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within muscle organ morphogenesis 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 ossification 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
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of cell-matrix adhesion 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 
acts_upstream_of_or_within somitogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in tissue development 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
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
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
 
Preferred Names
myogenic factor 5
Names
class C basic helix-loop-helix protein 2
myf-5

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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.

mRNA and Protein(s)

  1. NM_005593.3NP_005584.2  myogenic factor 5

    See identical proteins and their annotated locations for NP_005584.2

    Status: VALIDATED

    Source sequence(s)
    AC025568, BC069373, BP231293, BX089431, X14894
    Consensus CDS
    CCDS9020.1
    UniProtKB/Swiss-Prot
    P13349, Q6ISR9
    UniProtKB/TrEMBL
    Q5U0P5
    Related
    ENSP00000228644.3, ENST00000228644.4
    Conserved Domains (3) summary
    smart00520
    Location:188
    BASIC; Basic domain in HLH proteins of MYOD family
    pfam00010
    Location:84135
    HLH; Helix-loop-helix DNA-binding domain
    pfam12232
    Location:143214
    Myf5; Myogenic determination factor 5

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
    80716912..80719671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    80695622..80698381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)