MYF5 (myogenic factor 5)

Gene

• Entrez ID: 4617
• Gene name: Myogenic factor 5
• Gene symbol: MYF5
• Synonyms: EORVA, bHLHc2
• Chromosome: 12
• Chromosome location: 12q21.31

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555216163	AGTTCTCACC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565864693	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019252	hsa-miR-148b-3p	Microarray	17612493
MIRT439121	hsa-miR-10b-5p	3'LIFE	25074381
MIRT439121	hsa-miR-10b-5p	3'LIFE	25074381
MIRT1168077	hsa-miR-1248	CLIP-seq
MIRT1168078	hsa-miR-127-5p	CLIP-seq
MIRT1168079	hsa-miR-1276	CLIP-seq
MIRT1168080	hsa-miR-1914	CLIP-seq
MIRT1168081	hsa-miR-3614-3p	CLIP-seq
MIRT1168082	hsa-miR-4311	CLIP-seq
MIRT1168083	hsa-miR-4659a-3p	CLIP-seq
MIRT1168084	hsa-miR-4659b-3p	CLIP-seq
MIRT1168085	hsa-miR-4778-3p	CLIP-seq
MIRT1168086	hsa-miR-4786-3p	CLIP-seq
MIRT1168087	hsa-miR-583	CLIP-seq
MIRT1168088	hsa-miR-600	CLIP-seq
MIRT1168077	hsa-miR-1248	CLIP-seq
MIRT1168083	hsa-miR-4659a-3p	CLIP-seq
MIRT1168084	hsa-miR-4659b-3p	CLIP-seq
MIRT1168085	hsa-miR-4778-3p	CLIP-seq
MIRT1168077	hsa-miR-1248	CLIP-seq
MIRT1168083	hsa-miR-4659a-3p	CLIP-seq
MIRT1168084	hsa-miR-4659b-3p	CLIP-seq
MIRT1168085	hsa-miR-4778-3p	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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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:0001502	Process	Cartilage condensation	IEA
GO:0001503	Process	Ossification	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	IEA
GO:0005515	Function	Protein binding	IPI	19829708, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007517	Process	Muscle organ development	TAS	2311584
GO:0007519	Process	Skeletal muscle tissue development	TAS	2721498
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IBA	21873635
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA	21873635
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
GO:0060415	Process	Muscle tissue morphogenesis	IEA
GO:0070888	Function	E-box binding	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS	8035824

Other IDs

• MIM: 159990
• HGNC: 7565
• e!Ensembl: ENSG00000111049

Protein

• UniProt ID: P13349
• Protein name: Myogenic factor 5 (Myf-5) (Class C basic helix-loop-helix protein 2) (bHLHc2)
• Protein function: Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogen
• PDB: 7Z5I, 7Z5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01586	Basic	13 → 83	Myogenic Basic domain	Family
  PF00010	HLH	84 → 135	Helix-loop-helix DNA-binding domain	Domain
  PF12232	Myf5	143 → 214	Myogenic determination factor 5	Family

• Sequence:

  MDVMDGCQFSPSEYFYDGSCIPSPEGEFGDEFVPRVAAFGAHKAELQGSDEDEHVRAPTG
  HHQAGHCLMWACKACKRKSTTMDRRKAATMRERRRLKKVNQAFETLKRCTTTNPNQRLPK
  VEILRNAIRYIESLQELLREQVENYYSLPGQSCSEPTSPTSNCSDGMPECNSPVWSRKSS
  TFDSIYCPDVSNVYATDKNSLSSLDCLSNIVDRITSSEQPGLPLQDLASLSPVASTDSQP
  ATPGASSSRLIYHVL

• Sequence length: 255

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Reactome:

Myogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Ophthalmoplegia, with rib and vertebral anomalies	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	rs1565864693, rs1555216163	29887215
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital pectus excavatum	Congenital pectus excavatum
Exotropia	Exotropia
Hypotropia	Hypotropia
Ptosis	Blepharoptosis, Ptosis	rs139920573