MYF6

Summary

MYF6 (myogenic factor 6, HGNC:7566) is a protein-coding gene on chromosome 12q21.31, encoding Myogenic factor 6 (P23409). Involved in muscle differentiation (myogenic factor).

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).

Source: NCBI Gene 4618 — RefSeq curated summary.

At a glance

• Gene–disease (curated): centronuclear myopathy (Limited, GenCC)
• Clinical variants (ClinVar): 74 total — 1 likely-pathogenic
• Phenotypes (HPO): 30
• Transcription factor: yes — 15 downstream targets (CollecTRI)
• MANE Select transcript: NM_002469

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7566
Approved symbol	MYF6
Name	myogenic factor 6
Location	12q21.31
Locus type	gene with protein product
Status	Approved
Aliases	MRF4, bHLHc4
Ensembl gene	ENSG00000111046
Ensembl biotype	protein_coding
OMIM	159991
Entrez	4618

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000228641, ENST00000957792

RefSeq mRNA: 1 — MANE Select: NM_002469 NM_002469

CCDS: CCDS9019

Canonical transcript exons

ENST00000228641 — 3 exons

Exon	Start	End
ENSE00000752671	80708524	80708614
ENSE00000875267	80707634	80708238
ENSE00000875268	80708842	80709474

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 99.22.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.1878 / max 819.5314, expressed in 64 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127109	0.7649	38
127112	0.3121	51
127110	0.0615	20
127111	0.0278	13
127114	0.0097	5
127108	0.0073	5
127113	0.0045	3

Top tissues by expression

282 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gluteal muscle	UBERON:0002000	99.22	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.13	gold quality
triceps brachii	UBERON:0001509	98.83	gold quality
gastrocnemius	UBERON:0001388	98.52	gold quality
biceps brachii	UBERON:0001507	98.43	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.32	gold quality
deltoid	UBERON:0001476	98.25	gold quality
skeletal muscle tissue	UBERON:0001134	98.10	gold quality
diaphragm	UBERON:0001103	98.04	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.95	gold quality
quadriceps femoris	UBERON:0001377	97.85	gold quality
vastus lateralis	UBERON:0001379	97.77	gold quality
tibialis anterior	UBERON:0001385	97.75	gold quality
muscle organ	UBERON:0001630	97.14	gold quality
skeletal muscle organ	UBERON:0014892	97.14	gold quality
muscle of leg	UBERON:0001383	96.80	gold quality
body of tongue	UBERON:0011876	95.38	gold quality
muscle tissue	UBERON:0002385	88.55	gold quality
tongue	UBERON:0001723	84.54	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.49	gold quality
superior surface of tongue	UBERON:0007371	72.63	gold quality
pharyngeal mucosa	UBERON:0000355	68.68	gold quality
oral cavity	UBERON:0000167	59.80	silver quality
cranial nerve II	UBERON:0000941	58.82	silver quality
skin of hip	UBERON:0001554	57.33	silver quality
jejunum	UBERON:0002115	56.79	gold quality
trabecular bone tissue	UBERON:0002483	54.33	silver quality
gingival epithelium	UBERON:0001949	52.88	gold quality
gingiva	UBERON:0001828	52.85	gold quality
minor salivary gland	UBERON:0001830	52.80	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.68

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

15 targets.

Target	Regulation
ACACB	Unknown
CDKN1A	Repression
CKM
DES	Activation
EIF3K
FGF2
MAPK1
MEF2A
MYF5
MYF6
MYOD1	Activation
MYOG	Repression
SCN8A
TKT
TP73	Activation

JASPAR motifs

Motif	Name	Family
MA0667.1	MYF6	MyoD/ASC-related factors

JASPAR matrix evidence (PMIDs): PMID:19443739

Upstream regulators (CollecTRI, top): MEF2A, MEF2C, MEF2D, MYF5, MYF6, MYOD1, MYOG, MYRF, SIX4, TBP

miRNA regulators (miRDB)

26 targeting MYF6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-569	99.42	66.32	1009
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-942-3P	98.81	69.04	876
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-4509	96.19	65.80	900
HSA-MIR-4524B-3P	95.52	64.12	964
HSA-MIR-192-5P	94.82	66.14	417
HSA-MIR-215-5P	94.82	66.07	422
HSA-MIR-5195-5P	90.84	65.09	287

Literature-anchored findings (GeneRIF, showing 3)

• The myogenic basic helix-loop-helix family of transcription factors, MyoD, Myf5, myogenin, and MRF4, can each activate the muscle differentiation program. (PMID:12105204)
• Myogenin and myogenic differentiation factor D (MyoD) mRNAs increased (P < 0.05) in young and old, whereas myogenic factor (myf)-5 mRNA increased in young only (P < 0.05). Myf-6 protein increased (P < 0.05) in both young and old. (PMID:16614355)
• Hypomethylation status of MYF6 supported expression in Hairy cell leukemia more than Hairy cell leukemia variant. (PMID:32040482)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	myf6	ENSDARG00000029830
mus_musculus	Myf6	ENSMUSG00000035923
rattus_norvegicus	Myf6	ENSRNOG00000004878
drosophila_melanogaster	nau	FBGN0002922
caenorhabditis_elegans		WBGENE00001948

Paralogs (3): MYF5 (ENSG00000111049), MYOG (ENSG00000122180), MYOD1 (ENSG00000129152)

Protein

Protein identifiers

Myogenic factor 6 — P23409 (reviewed: P23409)

Alternative names: Class C basic helix-loop-helix protein 4, Muscle-specific regulatory factor 4

All UniProt accessions (1): P23409

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein. Interacts with CSRP3.

Subcellular location. Nucleus.

Tissue specificity. Skeletal muscle.

RefSeq proteins (1): NP_002460* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002546	MyoD_N	Domain
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR039704	Myogenic_factor	Family

Pfam: PF00010, PF01586

UniProt features (6 total): sequence variant 2, chain 1, domain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P23409-F1	67.22	0.28

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-525793	Myogenesis
R-HSA-9839394	TGFBR3 expression
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-9006936	Signaling by TGFB family members
R-HSA-9839373	Signaling by TGFBR3

MSigDB gene sets: 243 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_GROWTH, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGENERATION, MODULE_329, LHX3_01, AAAYRNCTG_UNKNOWN

GO Biological Process (17): somitogenesis (GO:0001756), regulation of transcription by RNA polymerase II (GO:0006357), skeletal muscle tissue development (GO:0007519), skeletal muscle cell differentiation (GO:0035914), muscle cell fate commitment (GO:0042693), skeletal muscle tissue regeneration (GO:0043403), positive regulation of myoblast differentiation (GO:0045663), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of skeletal muscle fiber development (GO:0048743), muscle tissue morphogenesis (GO:0060415), regulation of DNA-templated transcription (GO:0006355), muscle organ development (GO:0007517), tissue development (GO:0009888), cell differentiation (GO:0030154), positive regulation of DNA-templated transcription (GO:0045893), animal organ development (GO:0048513)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), E-box binding (GO:0070888)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), mitotic spindle (GO:0072686), RNA polymerase II transcription regulator complex (GO:0090575)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Developmental Biology	1
Signaling by TGFBR3	1
Signal Transduction	1
Signaling by TGFB family members	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	4
DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
anatomical structure development	2
anterior/posterior pattern specification	1
segmentation	1
chordate embryonic development	1
anatomical structure formation involved in morphogenesis	1
somite development	1
striated muscle tissue development	1
skeletal muscle organ development	1
skeletal muscle tissue development	1
cell differentiation	1
muscle cell differentiation	1
cell fate commitment	1
tissue regeneration	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
negative regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
positive regulation of cell development	1
positive regulation of skeletal muscle tissue development	1
skeletal muscle fiber development	1
regulation of skeletal muscle fiber development	1
positive regulation of striated muscle cell differentiation	1
muscle organ morphogenesis	1
tissue morphogenesis	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
animal organ development	1
muscle structure development	1
cellular developmental process	1
positive regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1

Protein interactions and networks

STRING

1414 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYF6	PAX3	P23760	891
MYF6	PAX7	P23759	836
MYF6	MYF5	P13349	803
MYF6	MYOD1	P15172	791
MYF6	ZFP62	Q8NB50	769
MYF6	MEF2A	Q02078	731
MYF6	MSTN	O14793	713
MYF6	MYH2	Q9UKX2	707
MYF6	MYOG	P15173	691
MYF6	SAXO6	Q8TC05	678
MYF6	MYH1	P12882	669
MYF6	MYH6	P13533	661
MYF6	DMD	P11532	649
MYF6	MYMK	A6NI61	632
MYF6	MTMR14	Q8NCE2	606

IntAct

26 interactions, top by confidence:

A	B	Type	Score
MYF6	TCF12	psi-mi:“MI:0915”(physical association)	0.630
MYF6		psi-mi:“MI:0915”(physical association)	0.370
	MYF6	psi-mi:“MI:0915”(physical association)	0.370
CCL1	MYF6	psi-mi:“MI:0915”(physical association)	0.370
IFNA4	MYF6	psi-mi:“MI:0915”(physical association)	0.370
IFNA8	MYF6	psi-mi:“MI:0915”(physical association)	0.370
IFNL1	MYF6	psi-mi:“MI:0915”(physical association)	0.370
IL23A	MYF6	psi-mi:“MI:0915”(physical association)	0.370
IL31	MYF6	psi-mi:“MI:0915”(physical association)	0.370
PF4V1	MYF6	psi-mi:“MI:0915”(physical association)	0.370
MYF6	TBC1D4	psi-mi:“MI:0914”(association)	0.350
MYF6	LAMTOR5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (28): TCF12 (Two-hybrid), TCF4 (Affinity Capture-MS), TCF12 (Affinity Capture-MS), TCF3 (Affinity Capture-MS), NES (Affinity Capture-MS), ID4 (Affinity Capture-MS), MAPK14 (Affinity Capture-MS), IRGC (Affinity Capture-MS), TBC1D4 (Affinity Capture-MS), DISC1 (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), MBIP (Affinity Capture-MS), MYF6 (Two-hybrid), MYF6 (Two-hybrid), MYF6 (Reconstituted Complex)

ESM2 similar proteins: A3KNX5, A5YC49, A6NJ46, A6NNA5, F1Q4R9, O09105, O35137, P12979, P15173, P15375, P17920, P19335, P20428, P23409, P28322, P31276, P34060, P34061, P43268, P43688, P48985, P49812, P70368, P70436, P70661, Q01795, Q08856, Q1KKY2, Q32NH9, Q3MHT3, Q3UHX8, Q3YFL6, Q4G112, Q5ND04, Q5RJB0, Q5TIS6, Q62798, Q66HH3, Q66IG8, Q6VNZ9

Diamond homologs: B6VQA1, M0QWB7, O13125, O13126, O35885, O42202, O57598, O96004, P09774, P09775, P10083, P10084, P10085, P13349, P15172, P15375, P17667, P19335, P19359, P19360, P22816, P23409, P24699, P29331, P34061, P34555, P46581, P48987, P49811, P50553, P57100, P57101, P57102, P59101, P61295, P61296, P70447, P70562, P70595, P70660

SIGNOR signaling

9 interactions.

A	Effect	B	Mechanism
YAP1	down-regulates	MYF6
MYF6	up-regulates	Skeletal_muscle_differentiation
MEF2C	“up-regulates quantity by expression”	MYF6	“transcriptional regulation”
MEF2A	“up-regulates quantity by expression”	MYF6	“transcriptional regulation”
MEF2D	“up-regulates quantity by expression”	MYF6	“transcriptional regulation”
CSRP3	“up-regulates activity”	MYF6	binding
MYF6	“up-regulates quantity by expression”	DES	“transcriptional regulation”
MYOG	“up-regulates quantity by expression”	MYF6	“transcriptional regulation”
MYF6	“up-regulates activity”	Skeletal_muscle_differentiation

Disease & clinical

Clinical variants and AI predictions

ClinVar

74 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	48
Likely benign	10
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
421670	NM_002469.3(MYF6):c.356G>A (p.Arg119Gln)	Likely pathogenic

SpliceAI

200 predictions. Top by Δscore:

Variant	Effect	Δscore
12:80708235:AAAT:A	donor_gain	1.0000
12:80708236:AAT:A	donor_gain	1.0000
12:80708236:AATGT:A	donor_loss	1.0000
12:80708237:AT:A	donor_gain	1.0000
12:80708238:TGTA:T	donor_loss	1.0000
12:80708239:G:GG	donor_gain	1.0000
12:80708239:GTA:G	donor_loss	1.0000
12:80708240:T:TC	donor_loss	1.0000
12:80708217:C:G	donor_gain	0.9900
12:80708234:AAAAT:A	donor_gain	0.9900
12:80708445:A:T	donor_gain	0.9900
12:80708523:GCTT:G	acceptor_gain	0.9900
12:80708522:A:AG	acceptor_gain	0.9800
12:80708523:G:GG	acceptor_gain	0.9800
12:80708611:G:GT	donor_gain	0.9800
12:80708612:A:T	donor_gain	0.9800
12:80708615:G:T	donor_loss	0.9800
12:80708616:T:A	donor_loss	0.9800
12:80708835:C:A	acceptor_gain	0.9800
12:80708839:CA:C	acceptor_loss	0.9800
12:80708840:A:AG	acceptor_gain	0.9800
12:80708841:G:A	acceptor_loss	0.9800
12:80708841:G:GG	acceptor_gain	0.9800
12:80708841:GGA:G	acceptor_gain	0.9800
12:80708194:G:GT	donor_gain	0.9700
12:80708234:A:T	donor_gain	0.9700
12:80708605:GC:G	donor_gain	0.9700
12:80708610:GGAAG:G	donor_gain	0.9700
12:80708437:G:GT	donor_gain	0.9600
12:80708444:G:GT	donor_gain	0.9600

AlphaMissense

1576 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:80707948:T:C	C77R	1.000
12:80707957:T:A	W80R	1.000
12:80707957:T:C	W80R	1.000
12:80707959:G:C	W80C	1.000
12:80707959:G:T	W80C	1.000
12:80707963:T:C	C82R	1.000
12:80707964:G:A	C82Y	1.000
12:80707965:C:G	C82W	1.000
12:80708012:C:A	A98D	1.000
12:80708018:T:C	L100P	1.000
12:80708020:C:A	R101S	1.000
12:80708020:C:T	R101C	1.000
12:80708023:G:A	E102K	1.000
12:80708024:A:T	E102V	1.000
12:80708025:A:C	E102D	1.000
12:80708025:A:T	E102D	1.000
12:80708027:G:C	R103T	1.000
12:80708027:G:T	R103M	1.000
12:80708028:G:C	R103S	1.000
12:80708028:G:T	R103S	1.000
12:80708033:G:C	R105T	1.000
12:80708033:G:T	R105M	1.000
12:80708034:G:C	R105S	1.000
12:80708034:G:T	R105S	1.000
12:80708036:T:A	L106Q	1.000
12:80708036:T:C	L106P	1.000
12:80708049:C:A	N110K	1.000
12:80708049:C:G	N110K	1.000
12:80708053:G:C	A112P	1.000
12:80708056:T:A	F113I	1.000

dbSNP variants (sampled 300 via entrez): RS1001581168 (12:80706041 G>A), RS1001635276 (12:80706390 T>C), RS1001737785 (12:80706016 C>T), RS1002350513 (12:80707330 A>G,T), RS1002875218 (12:80707055 C>T), RS1003864095 (12:80708319 G>A,C), RS1004935559 (12:80709289 G>T), RS1007217115 (12:80706855 G>C), RS1008317490 (12:80706087 A>G), RS1010614571 (12:80708485 T>G), RS1011729163 (12:80709650 T>A), RS1012074664 (12:80709613 A>T), RS1012168239 (12:80708756 G>A,T), RS1012709667 (12:80709912 C>G), RS1013493242 (12:80708230 C>A,G)

Disease associations

OMIM: gene MIM:159991 | disease phenotypes: MIM:160150, MIM:614408

GenCC curated gene-disease

Disease	Classification	Inheritance
centronuclear myopathy	Limited	Autosomal dominant

Mondo (2): autosomal dominant centronuclear myopathy (MONDO:0008048), centronuclear myopathy (MONDO:0018947)

Orphanet (1): Autosomal dominant centronuclear myopathy (Orphanet:169189)

HPO phenotypes

30 total (30 of 30 shown, HPO-id order):

HPO	Term
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000508	Ptosis
HP:0000544	External ophthalmoplegia
HP:0000883	Thin ribs
HP:0001048	Cavernous hemangioma
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001436	Abnormality of the foot musculature
HP:0001520	Large for gestational age
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0002021	Pyloric stenosis
HP:0002047	Malignant hyperthermia
HP:0002194	Delayed gross motor development
HP:0002522	Areflexia of lower limbs
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0003458	EMG: myopathic abnormalities
HP:0003477	Peripheral axonal neuropathy
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003738	Exercise-induced myalgia
HP:0003803	Type 1 muscle fiber predominance
HP:0004488	Macrocephaly at birth
HP:0005268	Miscarriage
HP:0008180	Mildly elevated creatine kinase
HP:0008981	Calf muscle hypertrophy
HP:0008994	Proximal lower limb muscle weakness
HP:0008997	Proximal upper limb muscle weakness
HP:0010546	Muscle fibrillation
HP:0012768	Neonatal asphyxia

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Vorinostat	affects cotreatment, increases expression	2
Valproic Acid	affects expression, decreases expression	2
methylmercuric chloride	decreases expression	1
arsenite	increases methylation	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Diethylhexyl Phthalate	decreases expression	1
Endosulfan	decreases expression	1
Tretinoin	increases response to substance	1
Palmitic Acid	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4I5	SEES3-1V human MYF6, clone1	Embryonic stem cell	Male
CVCL_A4I6	SEES3-1V human MYF6, clone2	Embryonic stem cell	Male
CVCL_A4I7	SEES3-1V human MYF6, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

12 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04033159	PHASE1/PHASE2	TERMINATED	Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies
NCT04743557	PHASE1/PHASE2	WITHDRAWN	Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies
NCT00272883	Not specified	RECRUITING	Molecular and Genetic Studies of Congenital Myopathies
NCT03351270	Not specified	COMPLETED	Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
NCT04064307	Not specified	RECRUITING	Myotubular and Centronuclear Myopathy Patient Registry
NCT04977648	Not specified	WITHDRAWN	Natural History Study of Patients With Centronuclear Myopathies
NCT05099107	Not specified	COMPLETED	Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
NCT05982119	Not specified	RECRUITING	Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
NCT06157268	Not specified	RECRUITING	The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
NCT06791369	Not specified	NOT_YET_RECRUITING	The Prevalence of RYR1-related Disease
NCT07021820	Not specified	RECRUITING	Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
NCT07478172	Not specified	RECRUITING	Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease