MYF5 - myogenic factor 5 Gene

Homo sapiens

Also known as EORVA; bHLHc2

Gene ID: 4617 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08892	MYF5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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