Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4618
Gene name	Myogenic factor 6
Gene symbol	MYF6
Synonyms (NCBI Gene)	CNM3MRF4bHLHc4myf-6
Chromosome	12
Chromosome location	12q21.31
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

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021325	hsa-miR-9-5p	Microarray	17612493
MIRT1168089	hsa-miR-3163	CLIP-seq
MIRT1168090	hsa-miR-548aa	CLIP-seq
MIRT1168091	hsa-miR-548n	CLIP-seq
MIRT1168092	hsa-miR-548t	CLIP-seq
MIRT1168093	hsa-miR-889	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	2311584
GO:0005515	Function	Protein binding	IPI	21516116, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	2311584
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	2311584
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	2311584
GO:0009888	Process	Tissue development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IBA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA
GO:0060415	Process	Muscle tissue morphogenesis	IEA
GO:0070888	Function	E-box binding	ISS
GO:0072686	Component	Mitotic spindle	IDA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
159991	7566	ENSG00000111046

P23409

Protein name

Myogenic factor 6 (Myf-6) (Class C basic helix-loop-helix protein 4) (bHLHc4) (Muscle-specific regulatory factor 4)

Protein function

Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01586	Basic	3 → 93	Myogenic Basic domain	Family
PF00010	HLH	94 → 145	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Skeletal muscle.

Sequence

MMMDLFETGSYFFYLDGENVTLQPLEVAEGSPLYPGSDGTLSPCQDQMPPEAGSDSSGEE
HVLAPPGLQPPHCPGQCLIWACKTCKRKSAPTDRRKAATLRERRRLKKINEAFEALKRRT
VANPNQRLPKVEILRSAISYIERLQDLLHRLDQQEKMQELGVDPFSYRPKQENLEGADFL
RTCSSQWPSVSDHSRGLVITAKEGGASIDSSASSSLRCLSSIVDSISSEERKLPCVEEVV
EK

Sequence length

242

Interactions

View interactions

	Reactome
			Myogenesis

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant centronuclear myopathy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1187510400, rs1188507871, rs1013493242, rs201098963, rs1035326012, rs368477055, rs199669444, rs2121343603, rs768710318, rs1346404270, rs779208935, rs1443837642, rs753280057, rs28928909, rs578239628 View all (23 more)	RCV003227518 RCV003227520 RCV003227519 RCV003227521 RCV003227522 RCV003227523 RCV003227524 RCV003227527 RCV003227528 RCV003227529 RCV003227531 RCV003227530 RCV003227534 RCV000988878 RCV003227472 RCV003227473 RCV003227485 RCV003227490 RCV003227487 RCV003227488 RCV003227491 RCV003227486 RCV000988877 RCV003227489 RCV003227492 RCV003227497 RCV003227498 RCV003227499 RCV003227502 RCV003227505 RCV003227507 RCV003227510 RCV003227511 RCV003227509 RCV003227508 RCV003227514 RCV003227515 RCV003227513 RCV003227517
Centronuclear Myopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs578239628, rs886049856, rs549067340, rs3120, rs886049857, rs1047183, rs753948192, rs886049855, rs201273759, rs886049858, rs1047185, rs3121, rs1185873	RCV000316649 RCV000276821 RCV000331668 RCV000386200 RCV000328297 RCV000342986 RCV000284679 RCV000261466 RCV000371395 RCV000382548 RCV000406980 RCV000288148 RCV000292087 RCV000382406
MYF6-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs28928909, rs141278987	RCV003407334 RCV003952835

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cryopyrin Associated Periodic Syndromes	Associate	37380094
Leiomyosarcoma	Associate	28884746
Leukemia Hairy Cell	Associate	32040482
Leukemia Lymphocytic Chronic B Cell	Associate	32040482
Lung Neoplasms	Associate	31526458
Lymphoma Mantle Cell	Associate	32040482
Myasthenic Syndromes Congenital	Associate	27286495
Myotonic Dystrophy	Associate	27286495
Neoplasms	Associate	1764365
Pulmonary Disease Chronic Obstructive	Inhibit	24666540
Rhabdomyosarcoma	Associate	1764365
Sarcoma Alveolar Soft Part	Associate	19146682

MYF6 (myogenic factor 6)