MYF5 myogenic factor 5 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: MYF5provided by HGNC
Official Full Name: myogenic factor 5provided by HGNC
Primary source: HGNC:7565
See related: Ensembl:ENSG00000111049; HPRD:01168; MIM:159990; Vega:OTTHUMG00000170166
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: bHLHc2

Genomic context

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Location :: 12q21

Sequence :: Chromosome: 12; NC_000012.11 (81110708..81113447)

See MYF5 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

results are the first demonstration of a myogenic conversion of human mesenchymal and endothelial cells by Myf5
Title: Efficient in vitro myogenic reprogramming of human primary mesenchymal stem cells and endothelial cells by Myf5.
DUX4c induces the MYF5 protein and myoblast proliferation, and has a role in facioscapulohumeral muscular dystrophy
Title: DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.
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.
A novel homozygous polymorphism that prevented the binding of MYF-5 to FOXE1 promoter and affected the FOXE1 expression was found in 45% nonsyndromic cleft palate.
Title: Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate.
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.
Mrf4 expression precedes or is contemporaneous with that of Myf5, suggesting that this transcription factor plays a hitherto unsuspected role in myogenesis
Title: Expression of the myogenic regulatory factor Mrf4 precedes or is contemporaneous with that of Myf5 in the somitic bud.
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.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P13349	Calmodulin 1	CALM1	HPRD	PubMed
P13349	Calmodulin 3	CALM3	HPRD	PubMed
P13349	P62158	CALM3	HPRD	PubMed
P13349	P68400	CSNK2A1	HPRD	PubMed
P13349	P19784	CSNK2A2	HPRD	PubMed
P13349	P41134	ID1	HPRD	PubMed
P13349	Q02363	ID2	HPRD	PubMed
P13349	Q02535	ID3	HPRD	PubMed
P13349	Q99750	MDFI	HPRD	PubMed
P13349	P13349	MYF5	HPRD	PubMed
P13349	P15923	TCF3	HPRD	PubMed
BioGRID:110702	BioGRID:122060	ELSPBP1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110702	BioGRID:109623	ID1	BioGRID	PubMed	Two-hybrid
BioGRID:110702	BioGRID:109624	ID2	BioGRID	PubMed	Two-hybrid
BioGRID:110702	BioGRID:109625	ID3	BioGRID	PubMed	Two-hybrid
BioGRID:110702	BioGRID:110353	MDFI	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110702	BioGRID:112791	TCF3	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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CDO in myogenesis, organism-specific biosystem (from REACTOME)
CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
Myogenesis, organism-specific biosystem (from REACTOME)
Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
Regulation of Wnt-mediated beta catenin signaling and target gene transcription
miRs in Muscle Cell Differentiation, organism-specific biosystem (from WikiPathways)
miRs in Muscle Cell Differentiation, organism-specific biosystem
miRs in Muscle Cell Differentiation

General gene information

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Markers

WI-16580 (e-PCR)
- UniSTS:9233

MYF5HAEIII (e-PCR)
- UniSTS:253260

Myf5 (e-PCR), detects polymorphism
- UniSTS:226142

SHGC-104971 (e-PCR)
- UniSTS:169066

SHGC-12688 (e-PCR)
- UniSTS:67735

GDB:384940 (e-PCR)
- UniSTS:157124

NoName (e-PCR)
- UniSTS:483271

NoName (e-PCR)
- UniSTS:481268

Homology

Homologs of the MYF5 gene: The MYF5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and fruit fly.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to E-box binding	ISS Inferred from Sequence or Structural Similarity more info
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
camera-type eye development	IEA Inferred from Electronic Annotation more info
cartilage condensation	IEA Inferred from Electronic Annotation more info
embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
extracellular matrix organization	IEA Inferred from Electronic Annotation more info
muscle cell differentiation	TAS Traceable Author Statement more info
muscle cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
muscle organ development	TAS Traceable Author Statement more info	PubMed
muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
ossification	IEA Inferred from Electronic Annotation more info
positive regulation of muscle cell differentiation	TAS Traceable Author Statement more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
regulation of transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed
skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
somitogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: myogenic factor 5

Names: myogenic factor 5; myf-5; class C basic helix-loop-helix protein 2

NCBI Reference Sequences (RefSeq)

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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)

NM_005593.2 → NP_005584.2 myogenic factor 5

Status: VALIDATED

Source sequence(s)

BC069373, BP231293, BX089431, X14894

Consensus CDS

CCDS9020.1

UniProtKB/Swiss-Prot

P13349

Related

ENSP00000228644, OTTHUMP00000243110, ENST00000228644, OTTHUMT00000407757

Conserved Domains (3) summary

cd00083
Location:97 – 139
Blast Score: 119

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

smart00520
Location:1 – 83
Blast Score: 339

BASIC; Basic domain in HLH proteins of MYOD family

pfam12232
Location:143 – 214
Blast Score: 224

Myf5; Myogenic determination factor 5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p10 Primary Assembly

Range

81110708..81113447

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

78167593..78170332

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018923.1 Alternate CHM1_1.0

Range

80957977..80960716

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01053491.1 (107577..110316)	None
genomic	AC025568.25 (28763..31409)	None
genomic	AMYH01004612.1 (321889..324628)	None
genomic	CH471054.1	EAW97368.1
genomic	CS018099.1	CAI58664.1
genomic	CS025614.1	CAI61684.1
genomic	U27313.1	AAA69824.1
mRNA	BC069373.1	AAH69373.1
mRNA	BP231293.1	None
mRNA	BT019399.1	AAV38206.1
mRNA	BX089431.1	None
mRNA	X14894.1	CAA33025.1