MYF6 - myogenic factor 6 Gene

Also Known as CNM3; MRF4; myf-6; bHLHc4

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4618

About MYF6

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:80,707,634-80,709,474 (from NCBI)

This gene has 1 transcript (splice variant), 200 orthologues, 3 paralogues and is associated with 1 phenotype. Biased expression in prostate (RPKM 5.4) and esophagus (RPKM 2.8).

Summary

The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]

MYF6 Products (1)

mRNA	Protein	Name
NM_002469.3	NP_002460.1	myogenic factor 6

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

MYF6 Protein Structure

Basic

HLH

0
100
200
242 a.a.

Protein Preferred Names	Protein Names
myogenic factor 6	class C basic helix-loop-helix protein 4

MYF6 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	MYF6	P23409	TCF12	Homo sapiens	Q99081	Anti Tag CoIP	33961781
Intra	MYF6	P23409	TCF12	Homo sapiens	Q99081	Y2H	21516116

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2
Rhabdomyosarcoma
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Myopathy, Centronuclear, 4	CNM4 Centronuclear Myopathy 4 Congenital Myopathy With Internal Nuclei And Atypical Cores Centronuclear Myopathy Type 4 Myopathy, Centronuclear, Type 4
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	CNM6 Centronuclear Myopathy 6 With Fiber-Type Disproportion Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion
Oral Rhabdomyosarcoma
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Myopathy, Centronuclear, 5	CNM5 Centronuclear Myopathy 5 Myopathy, Centronuclear, Type 5
Myopathy	Muscular Diseases Myopathies
Inflammatory Leiomyosarcoma
Skeletal Muscle Neoplasm	Tumor Of Skeletal Muscle
Conventional Leiomyosarcoma
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
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
Skeletal Muscle Cancer	Malignant Tumor Of Skeletal Muscle Skeletal Muscle 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
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
Muscular Disease
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08893	MYF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	MYF6	MGD	MGI:97253
Felis catus	MYF6	VGNC	VGNC:68378
Rattus norvegicus	MYF6	RGD	RGD:3134
Bos taurus	MYF6	VGNC	VGNC:31793
Canis familiaris	MYF6	VGNC	VGNC:43534
Macaca mulatta	MYF6	VGNC	VGNC:75096
Others	MYF6	NCBI