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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4618
Gene name Gene Name - the full gene name approved by the HGNC.	Myogenic factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYF6
Synonyms (NCBI Gene) Gene synonyms aliases	CNM3, MRF4, bHLHc4, myf-6
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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(24)

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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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:0003700	Function	DNA-binding transcription factor activity	TAS	2311584
GO:0005634	Component	Nucleus	TAS	2311584
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007519	Process	Skeletal muscle tissue development	TAS	2311584
GO:0035914	Process	Skeletal muscle cell differentiation	IBA	21873635
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	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA	21873635
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
GO:0060415	Process	Muscle tissue morphogenesis	IEA
GO:0070888	Function	E-box binding	ISS
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

Protein

UniProt ID

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 Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Centronuclear myopathy	Autosomal dominant centronuclear myopathy	rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598 View all (25 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Myopathy	Myopathy, Centronuclear, Autosomal Dominant, MYOPATHY, CENTRONUCLEAR, 3	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)	11053684

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Peripheral axonal neuropathy	Peripheral axonal neuropathy	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
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)