MYOG (myogenin)

Gene

• Entrez ID: 4656
• Gene name: Myogenin
• Gene symbol: MYOG
• Synonyms (NCBI Gene): MYF4, bHLHc3, myf-4
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030010	hsa-miR-26b-5p	Microarray	19088304
MIRT1170280	hsa-miR-1255a	CLIP-seq
MIRT1170281	hsa-miR-1255b	CLIP-seq
MIRT1170282	hsa-miR-2114	CLIP-seq
MIRT1170283	hsa-miR-3127-5p	CLIP-seq
MIRT1170284	hsa-miR-3179	CLIP-seq
MIRT1170285	hsa-miR-3202	CLIP-seq
MIRT1170286	hsa-miR-3616-3p	CLIP-seq
MIRT1170287	hsa-miR-384	CLIP-seq
MIRT1170288	hsa-miR-3915	CLIP-seq
MIRT1170289	hsa-miR-3918	CLIP-seq
MIRT1170290	hsa-miR-3928	CLIP-seq
MIRT1170291	hsa-miR-4436b-3p	CLIP-seq
MIRT1170292	hsa-miR-4476	CLIP-seq
MIRT1170293	hsa-miR-4487	CLIP-seq
MIRT1170294	hsa-miR-4651	CLIP-seq
MIRT1170295	hsa-miR-4690-3p	CLIP-seq
MIRT1170296	hsa-miR-4711-5p	CLIP-seq
MIRT1170297	hsa-miR-4721	CLIP-seq
MIRT1170298	hsa-miR-4731-5p	CLIP-seq
MIRT1170299	hsa-miR-4802-3p	CLIP-seq
MIRT1170300	hsa-miR-490-5p	CLIP-seq
MIRT1170301	hsa-miR-516a-3p	CLIP-seq
MIRT1170302	hsa-miR-608	CLIP-seq
MIRT1170303	hsa-miR-637	CLIP-seq
MIRT1170283	hsa-miR-3127-5p	CLIP-seq
MIRT1170289	hsa-miR-3918	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MBD2	Unknown	19949307

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11076940
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001216	Function	DNA-binding transcription activator activity	IEA
GO:0001216	Function	DNA-binding transcription activator activity	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11076940
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS	19783823
GO:0001503	Process	Ossification	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	1850513, 10329008
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 29892012, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	10329008
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0009888	Process	Tissue development	IEA
GO:0010831	Process	Positive regulation of myotube differentiation	IEA
GO:0010831	Process	Positive regulation of myotube differentiation	ISS
GO:0014737	Process	Positive regulation of muscle atrophy	IEA
GO:0014737	Process	Positive regulation of muscle atrophy	ISS
GO:0014842	Process	Regulation of skeletal muscle satellite cell proliferation	IEA
GO:0014842	Process	Regulation of skeletal muscle satellite cell proliferation	ISS
GO:0014873	Process	Response to muscle activity involved in regulation of muscle adaptation	ISS
GO:0014878	Process	Response to electrical stimulus involved in regulation of muscle adaptation	ISS
GO:0014891	Process	Striated muscle atrophy	IEA
GO:0014891	Process	Striated muscle atrophy	ISS
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	IEA
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	ISS
GO:0014902	Process	Myotube differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032993	Component	Protein-DNA complex	ISS
GO:0035914	Process	Skeletal muscle cell differentiation	IBA
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	11076940
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA
GO:0045663	Process	Positive regulation of myoblast differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11076940
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	19783823
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	ISS
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	ISS
GO:1901739	Process	Regulation of myoblast fusion	IEA
GO:1901739	Process	Regulation of myoblast fusion	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 159980
• HGNC: 7612
• e!Ensembl: ENSG00000122180

Protein

• UniProt ID: P15173
• Protein name: Myogenin (Class C basic helix-loop-helix protein 3) (bHLHc3) (Myogenic factor 4) (Myf-4)
• Protein function: Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01586	Basic	1 → 81	Myogenic Basic domain	Family
  PF00010	HLH	82 → 133	Helix-loop-helix DNA-binding domain	Domain

• Sequence:

  MELYETSPYFYQEPRFYDGENYLPVHLQGFEPPGYERTELTLSPEAPGPLEDKGLGTPEH
  CPGQCLPWACKVCKRKSVSVDRRRAATLREKRRLKKVNEAFEALKRSTLLNPNQRLPKVE
  ILRSAIQYIERLQALLSSLNQEERDLRYRGGGGPQPGVPSECSSHSASCSPEWGSALEFS
  ANPGDHLLTADPTDAHNLHSLTSIVDSITVEDVSVAFPDETMPN

• Sequence length: 224

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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Brain Ischemia	Associate	18758635	★☆☆☆☆ Found in Text Mining only
Cachexia	Associate	19470832	★☆☆☆☆ Found in Text Mining only
Calcinosis Cutis	Associate	23584957	★☆☆☆☆ Found in Text Mining only
Cryopyrin Associated Periodic Syndromes	Inhibit	37380094	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Associate	7495304	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Inhibit	21289205	★☆☆☆☆ Found in Text Mining only
Esotropia	Associate	34044792	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Stimulate	25836975	★☆☆☆☆ Found in Text Mining only
Frailty	Associate	28869034	★☆☆☆☆ Found in Text Mining only
Glucose Intolerance	Associate	21289205	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Stimulate	30009538	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Associate	35233984	★☆☆☆☆ Found in Text Mining only
Immunoglobulin G4 Related Disease	Associate	17468105	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Associate	28884746	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	28651595	★☆☆☆☆ Found in Text Mining only
Malignant Teratocarcinosarcoma	Associate	27137987, 37378830	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	25844556	★☆☆☆☆ Found in Text Mining only
Muscle Neoplasms	Associate	26407995	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy	Associate	19470832	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Associate	23561550	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Associate	7778671	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Associate	27286495	★☆☆☆☆ Found in Text Mining only
Myosarcoma	Associate	11473460	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Stimulate	23058947	★☆☆☆☆ Found in Text Mining only
Myostatin related muscle hypertrophy	Associate	11600695, 28869034, 35233984	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20219075, 23479771, 24427371, 25197361, 29096655, 30287926, 30720533, 31383960, 33141488, 33318583, 34128847, 34670517, 35642345, 37686244	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Associate	28202082	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	30967152	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Inhibit	24666540	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Associate	37890269	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Associate	10666368, 11473460, 17468105, 1764365, 21762516, 23435416, 23584957, 24618610, 30975722, 33627785, 34285060, 7495304	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Stimulate	10666368	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Associate	18487991, 23584957, 23765537, 23999248, 29096655	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Associate	20701800, 27764816	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Stimulate	35801577	★☆☆☆☆ Found in Text Mining only
Thymoma	Associate	7778671	★☆☆☆☆ Found in Text Mining only
Urethral Neoplasms	Associate	21762516	★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Associate	11473460	★☆☆☆☆ Found in Text Mining only