MYF5 - myogenic factor 5 Gene

Also Known as EORVA; bHLHc2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4617

About MYF5

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:80,716,912-80,719,671 (from NCBI)

This gene has 1 transcript (splice variant), 200 orthologues, 3 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including animal organ development; regulation of cell-matrix adhesion; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MYF5 Products (1)

mRNA	Protein	Name
NM_005593.3	NP_005584.2	myogenic factor 5

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19829708	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYF5 Protein Structure

Basic

HLH

Myf5

0
100
200
255 a.a.

Protein Preferred Names	Protein Names
myogenic factor 5	class C basic helix-loop-helix protein 2

MYF5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYF5	P13349	ZNF250	Homo sapiens	P15622-3	Validated Y2H	32296183
Intra	MYF5	P13349	PACRGL	Homo sapiens	Q8N7B6-2	Validated Y2H	32296183
Intra	MYF5	P13349	CCDC13	Homo sapiens	Q8IYE1	Validated Y2H	32296183
Intra	MYF5	P13349	ITGB4	Homo sapiens	P16144-2	Validated Y2H	32296183
Intra	MYF5	P13349	TLE5	Homo sapiens	Q08117-2	Validated Y2H	32296183
Intra	MYF5	P13349	TCEANC	Homo sapiens	Q8N8B7-2	Validated Y2H	32296183
Intra	MYF5	P13349	FIGLA	Homo sapiens	Q6QHK4	Validated Y2H	32296183
Intra	MYF5	P13349	FAM124B	Homo sapiens	Q9H5Z6-2	Validated Y2H	32296183
Intra	MYF5	P13349	ID1	Homo sapiens	P41134	Validated Y2H	32296183
Intra	MYF5	P13349	ID3	Homo sapiens	Q02535	Validated Y2H	32296183
Intra	MYF5	P13349	ZNF575	Homo sapiens	Q86XF7	Validated Y2H	32296183
Intra	MYF5	P13349	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
Intra	MYF5	P13349	SCX	Homo sapiens	Q7RTU7	Validated Y2H	32296183
Intra	MYF5	P13349	RARG	Homo sapiens	P13631	Validated Y2H	32296183
Intra	MYF5	P13349	NHLH2	Homo sapiens	Q02577	Validated Y2H	32296183
Intra	MYF5	P13349	ZNF835	Homo sapiens	Q9Y2P0	Validated Y2H	32296183
Intra	MYF5	P13349	ZNF587	Homo sapiens	Q96SQ5	Validated Y2H	32296183
Intra	MYF5	P13349	PIN1	Homo sapiens	Q13526	Validated Y2H	32296183
Intra	MYF5	P13349	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
Intra	MYF5	P13349	ZNF417	Homo sapiens	Q8TAU3	Validated Y2H	32296183
Intra	MYF5	P13349	CHIC2	Homo sapiens	Q9UKJ5	Validated Y2H	32296183
Intra	MYF5	P13349	SGF29	Homo sapiens	Q96ES7	Validated Y2H	32296183
Intra	MYF5	P13349	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	MYF5	P13349	AQP1	Homo sapiens	P29972	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

MYF5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811073	MYF5 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82300	MYF5 Antibody (YA2045)	WB, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	EORVA
Scoliosis
Rhabdomyosarcoma
Oral Rhabdomyosarcoma
Torticollis	Contracture Of Neck Wry Neck Wry Neck/Torticollis
Skeletal Muscle Neoplasm	Tumor Of Skeletal Muscle
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Lipomatosis, Multiple Symmetric	Multiple Symmetric Lipomatosis Lipomatosis, Familial Benign Cervical Lipomatosis, Multiple Symmetrical Lipodystrophy, Cephalothoracic Benign Symmetrical Lipomatosis Madelung Disease Madelung'S Disease MSL Cervical Symmetrical Lipomatosis Launois-Bensaude'S Lipomatosis Madelung'S Neck Multiple Symmetrical Lipomatosis Familial Symmetric Lipomatosis Launois-Bensaude Syndrome Cephalothoracic Lipodystrophy Familial Benign Cervical Lipomatosis Launois-Bensaude Lipomatosis
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Botryoid Rhabdomyosarcoma	Sarcoma Botryoides Botryoid Sarcoma Botryoid-Type Embryonal Rhabdomyosarcoma
Skeletal Muscle Cancer	Malignant Tumor Of Skeletal Muscle Skeletal Muscle Neoplasm
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Lipomatosis	Benign Symmetrical Lipomatosis
Muscular Disease
Muscle Tissue Disease
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Muscle Cancer	Myosarcoma Malignant Neoplasm Of Muscle Malignant Tumor Of Muscle Malignant Tumor Of The Muscle Muscle Neoplasms Myomatous Neoplasm
Hemophagocytic Lymphohistiocytosis, Familial, 1	Familial Hemophagocytic Lymphohistiocytosis Fhl Familial Erythrophagocytic Lymphohistiocytosis Hemophagocytic Syndrome FHL1 Hplh1 Hlh1 Fel Familial Hemophagocytic Lymphohistiocytosis 1 Primary Hemophagocytic Lymphohistiocytosis Familial Hlh Hlh Familial Hemophagocytic Lymphocytosis Hemophagocytic Lymphohistiocytosis, Familial Reticulosis, Familial Histiocytic Hemophagocytic Reticulosis, Familial Erythrophagocytic Lymphohistiocytosis, Familial Familial Histiocytic Reticulosis Familial Hemophagocytic Histiocytosis Familial Hemophagocytic Reticulosis Fhlh Hplh Primary Hemophagocytic Hymphohistiocytosis Genetic Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis Type 1
Rhabdomyosarcoma 2	Alveolar Rhabdomyosarcoma Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma Alveolar RMS2 Rmsa Rhabdomyosarcoma 2, Alveolar Alveolar Childhood Rhabdomyosarcoma Arms Rhabdomyosarcoma, Type 2
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-180944	BE2012		99.49%	Unkown
HY-RS08892	MYF5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22246	Myf5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28768	Myf5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MYF5	RGD	RGD:1308322
Bos taurus	MYF5	VGNC	VGNC:31792
Macaca mulatta	MYF5	VGNC	VGNC:75095
Canis familiaris	MYF5	VGNC	VGNC:43533
Felis catus	MYF5	VGNC	VGNC:68377
Mus musculus	MYF5	MGD	MGI:97252
Others	MYF5	NCBI