Gene ID: 4617, updated on 12-Sep-2024
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Summary
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- 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
- hom*o sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; hom*o
- 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 animal organ development; regulation of cell-matrix adhesion; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
- Expression
- Low expression observed in reference dataset See more
- Orthologs
- mouse all
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Genomic context
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- 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 regions, transcripts, and products
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Expression
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- 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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Related articles in PubMed
- Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Di Gioia SA, et al. Am J Hum Genet, 2018 Jul 5. PMID 29887215, Free PMC Article
- Efficient in vitro myogenic reprogramming of human primary mesenchymal stem cells and endothelial cells by Myf5. Dimicoli-Salazar S, et al. Biol Cell, 2011 Nov. PMID 21810080
- Critical activities of Rac1 and Cdc42Hs in skeletal myogenesis: antagonistic effects of JNK and p38 pathways. Meriane M, et al. Mol Biol Cell, 2000 Aug. PMID 10930450, Free PMC Article
- Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate. Venza M, et al. J Oral Pathol Med, 2009 Jan. PMID 19192046
- Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106. Cupelli L, et al. Cytogenet Cell Genet, 1996. PMID 8978788
GeneRIFs: Gene References Into Functions
- 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 hom*ozygous 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.
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 | not available |
Variation
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Pathways from PubChem
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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)
- MYF5HAEIII (e-PCR)
- Myf5 (e-PCR), detects polymorphism
- SHGC-104971 (e-PCR)
- SHGC-12688 (e-PCR)
- GDB:384940 (e-PCR)
- NoName (e-PCR)
- NoName (e-PCR)
Gene Ontology Provided by GOA
Function | Evidence Code | Pubs |
---|---|---|
enables DNA-binding transcription activator activity, RNA polymerase II-specific | IEA Inferred from Electronic Annotation | |
enables DNA-binding transcription factor activity, RNA polymerase II-specific | IBA Inferred from Biological aspect of Ancestor | |
enables DNA-binding transcription factor activity, RNA polymerase II-specific | ISA Inferred from Sequence Alignment | |
contributes_to E-box binding | ISS Inferred from Sequence or Structural Similarity | |
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding | IBA Inferred from Biological aspect of Ancestor | |
enables protein binding | IPI Inferred from Physical Interaction | PubMed |
enables protein dimerization activity | IEA Inferred from Electronic Annotation |
Component | Evidence Code | Pubs |
---|---|---|
part_of RNA polymerase II transcription regulator complex | ISS Inferred from Sequence or Structural Similarity | PubMed |
part_of chromatin | ISA Inferred from Sequence Alignment | |
located_in nucleoplasm | IDA Inferred from Direct Assay | |
located_in nucleoplasm | TAS Traceable Author Statement |
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
- smart00520
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
-
NC_000012.12Reference GRCh38.p14 Primary Assembly
- Range
- 80716912..80719671
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060936.1Alternate T2T-CHM13v2.0
- Range
- 80695622..80698381
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
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Nucleotide | Protein | |
---|---|---|
Heading | Accession and Version |
Protein Accession | Links | |
---|---|---|
GenPept Link | UniProtKB Link | |
P13349.2 | GenPept | UniProtKB/Swiss-Prot:P13349 |
Additional links
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Gene LinkOut
The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.
- Interologous Interaction Database
- MilliporeSigma
- Bgee database
- BioGPS
- BioGRID Open Repository of CRISPR Screens (ORCS)
- Domain Mapping of Disease Mutations
- Eukaryotic Promoter Database
- GlyGen glycoinformatics resource
- Human eFP Browser
- Ingenuity Pathways Analysis
- InnateDB
- InterMine
- Kyoto Encyclopedia of Genes and Genomes
- OMA Browser: Orthologous MAtrix
- OrthoDB catalog of orthologs
- PANTHER Classification System
- PhosphoSitePlus
- The Weizmann Institute of Science GeneCards and MalaCards databases
- Addgene Non-profit plasmid repository
- Bio-Techne
- ExactAntigen/Labome
- GenScript latest version of gene cDNA ORF Clone
- GeneCopoeia Inc.
- GeneTex Inc
- Kazusa DNA Research Institute
- OriGene