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; 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, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

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_000012.12 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 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?

Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.
Title: Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.
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.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in cartilage condensation	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in 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 skeletal muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed
involved_in 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	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

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, Q6ISR9

UniProtKB/TrEMBL

Q5U0P5

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