MYF6 (myogenic factor 6)

Gene

• Entrez ID: 4618
• Gene name: Myogenic factor 6
• Gene symbol: MYF6
• Synonyms (NCBI Gene): CNM3, MRF4, bHLHc4, myf-6
• Chromosome: 12
• Chromosome location: 12q21.31
• Summary: The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021325	hsa-miR-9-5p	Microarray	17612493
MIRT1168089	hsa-miR-3163	CLIP-seq
MIRT1168090	hsa-miR-548aa	CLIP-seq
MIRT1168091	hsa-miR-548n	CLIP-seq
MIRT1168092	hsa-miR-548t	CLIP-seq
MIRT1168093	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	2311584
GO:0005515	Function	Protein binding	IPI	21516116, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	2311584
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	2311584
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	2311584
GO:0009888	Process	Tissue development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IBA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA
GO:0060415	Process	Muscle tissue morphogenesis	IEA
GO:0070888	Function	E-box binding	ISS
GO:0072686	Component	Mitotic spindle	IDA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 159991
• HGNC: 7566
• e!Ensembl: ENSG00000111046

Protein

• UniProt ID: P23409
• Protein name: Myogenic factor 6 (Myf-6) (Class C basic helix-loop-helix protein 4) (bHLHc4) (Muscle-specific regulatory factor 4)
• Protein function: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01586	Basic	3 → 93	Myogenic Basic domain	Family
  PF00010	HLH	94 → 145	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Skeletal muscle.
• Sequence:

  MMMDLFETGSYFFYLDGENVTLQPLEVAEGSPLYPGSDGTLSPCQDQMPPEAGSDSSGEE
  HVLAPPGLQPPHCPGQCLIWACKTCKRKSAPTDRRKAATLRERRRLKKINEAFEALKRRT
  VANPNQRLPKVEILRSAISYIERLQDLLHRLDQQEKMQELGVDPFSYRPKQENLEGADFL
  RTCSSQWPSVSDHSRGLVITAKEGGASIDSSASSSLRCLSSIVDSISSEERKLPCVEEVV
  EK

• Sequence length: 242

Pathways

Reactome:

Myogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal dominant centronuclear myopathy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CENTRONUCLEAR MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Centronuclear Myopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYF6-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	15489287		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant centronuclear myopathy	Centronuclear Myopathy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	11053684		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30719048		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20359506		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20359506		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	16531417		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30719048		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28884746	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	32040482	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31526458	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	27286495	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11053684		★☆☆☆☆ Found in Text Mining only
MYOPATHY, CENTRONUCLEAR, 3	Myopathy	GENOMICS_ENGLAND_DG	11053684		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27286495	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1764365		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24666540	Inhibit	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12082533		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	1764365	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	19146682	Associate	★☆☆☆☆ Found in Text Mining only