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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	28651595		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	10666368, 19175284, 23765537		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	10838498		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	18758635	Associate	★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	19470832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	31688243		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31688243		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30462567		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28578881, 31702007		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	10329008		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30462567		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28202082, 29709011		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	7495304	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21289205	Inhibit	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	10666368, 15536621, 22624717, 23765537, 29291204		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	34044792	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	8521556		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	25836975	Stimulate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	29341861		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	16531417		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	30009538	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	35233984	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28884746	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28651595	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	9413169		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31696361		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	9413169		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25844556	Associate	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	29608040		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	23561550	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	7778671		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	7778671	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	27286495	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	29401588		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	23058947	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	8550617		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10666368, 15536621, 1764365, 18708938, 19372547, 20701800, 27688079, 28248883, 29266774, 30287926, 30720533, 30829729, 9738572, 9836066		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10748015		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	28202082	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30967152		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30967152	Associate	★☆☆☆☆ Found in Text Mining only
Proteus Syndrome	Proteus Syndrome	BEFREE	8006374		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24666540	Inhibit	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	10329008		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	37890269	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10666368, 10973962, 12218574, 1313401, 15536621, 16720851, 16979522, 18708938, 19372547, 20213728, 21762516, 22135462, 23435416, 23717650, 24089019, 29973406, 30098515, 31696361, 9836066		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	10666368, 11473460, 17468105, 1764365, 21762516, 23435416, 23584957, 24618610, 30975722, 33627785, 34285060, 7495304	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17378682, 17468105, 18708938		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	10666368	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	18487991, 23584957, 23765537, 23999248, 29096655	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	20701800, 27764816	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	35801577	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28248883, 29266774, 30353686		★☆☆☆☆ Found in Text Mining only
Sertoli-Leydig Cell Tumor	Sertoli-Leydig Cell Tumor	BEFREE	16979522		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22798624		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	7778671		★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	11473460	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	21762516		★☆☆☆☆ Found in Text Mining only