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

Summary

Official Symbol: MYF5provided by HGNC
Official Full Name: myogenic factor 5provided by HGNC
Primary source: HGNC:HGNC:7565
See related: Ensembl:ENSG00000111049 MIM:159990
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
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all

Genomic context

Location:: 12q21.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (80716912..80719671)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (81110708..81113447)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNAIL silencing allows the re-expression of MYF5 and canonical MYOD binding, promoting alveolar rhabdomyosarcoma cell myogenic differentiation.
Title: SNAIL is a key regulator of alveolar rhabdomyosarcoma tumor growth and differentiation through repression of MYF5 and MYOD function.
The direct role of MYF5 in rib, spine, and extraocular muscle formation in humans.
Title: Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Analysis of human rhabdomyosarcoma revealed that MYF5 and MYOD are mutually-exclusively expressed and each is required for sustained tumor growth.
Title: Myogenic regulatory transcription factors regulate growth in rhabdomyosarcoma.
Pitx2c expression is reactivated, while expression of Myf5 is downregulated in human systolic heart failure as determined by qRT-PCR and Western blot analyses.
Title: Pitx2c is reactivated in the failing myocardium and stimulates myf5 expression in cultured cardiomyocytes.
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.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES MedGen: C4748418 OMIM: 618155 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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 frog.
Orthologs from Annotation Pipeline: 274 organisms have orthologs with human gene MYF5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
contributes_to E-box binding	ISS Inferred from Sequence or Structural Similarity more info
RNA polymerase II proximal promoter sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor 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 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 myoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of myoblast fusion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
skeletal muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed
somitogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
RNA polymerase II transcription factor complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
nuclear chromatin	ISA Inferred from Sequence Alignment more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: myogenic factor 5

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

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_005593.3 → NP_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

Related

ENSP00000228644.3, ENST00000228644.4

Conserved Domains (3) summary

smart00520
Location:1 → 88

BASIC; Basic domain in HLH proteins of MYOD family

pfam00010
Location:84 → 135

HLH; Helix-loop-helix DNA-binding domain

pfam12232
Location:143 → 214

Myf5; Myogenic determination factor 5