Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4617
Gene name	Myogenic factor 5
Gene symbol	MYF5
Synonyms (NCBI Gene)	EORVAbHLHc2
Chromosome	12
Chromosome location	12q21.31

Show/Hide all (2)

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

Show/Hide all (23)

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

Show/Hide all (41)

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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	2311584
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:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19829708, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
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:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	2311584
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	2721498
GO:0009888	Process	Tissue development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030198	Process	Extracellular matrix organization	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:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048644	Process	Muscle organ morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	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:0090575	Component	RNA polymerase II transcription regulator complex	ISS	8035824

MIM	HGNC	e!Ensembl
159990	7565	ENSG00000111049

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

Interactions

View interactions

	KEGG		Reactome
	Signaling pathways regulating pluripotency of stem cells		Myogenesis

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal rib morphology	Pathogenic	rs1565864693, rs1555216163	RCV000714278 RCV000659262	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
External ophthalmoplegia	Pathogenic	rs1565864693, rs1555216163	RCV000714278 RCV000659262	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ophthalmoplegia, external, with rib and vertebral anomalies	Pathogenic	rs1565864693, rs1555216163	RCV000714296 RCV000714295	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis	Pathogenic	rs1565864693, rs1555216163	RCV000714278 RCV000659262	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYF5-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	29844345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	27825100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	29887215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29633563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	27825100	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	22624717, 27184927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	BEFREE	29887215		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
External Ophthalmoplegia	External Ophthalmoplegia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotropia	Hypotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28884746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27184927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	19829708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	27286495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1764365, 23821038, 26464213, 28080960		★★★★★ ★☆☆☆☆ Found in Text Mining only
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	OPHTHALMOPLEGIA, WITH RIB AND VERTEBRAL ANOMALIES	GENOMICS_ENGLAND_DG	29887215		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	OPHTHALMOPLEGIA, WITH RIB AND VERTEBRAL ANOMALIES	UNIPROT_DG	29887215		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	OPHTHALMOPLEGIA, WITH RIB AND VERTEBRAL ANOMALIES	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35146962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22556020, 24666540, 34831227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	14662021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	14662021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	1764365, 19299559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28080960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	23999248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	19146682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	29887215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	19192046		★★★★★ ★☆☆☆☆ Found in Text Mining only

MYF5 (myogenic factor 5)