MYOG

Summary

MYOG (myogenin, HGNC:7612) is a protein-coding gene on chromosome 1q32.1, encoding Myogenin (P15173). Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy.

Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle.

Source: NCBI Gene 4656 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 37 total
• Transcription factor: yes — 69 downstream targets (CollecTRI)
• MANE Select transcript: NM_002479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7612
Approved symbol	MYOG
Name	myogenin
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	bHLHc3
Ensembl gene	ENSG00000122180
Ensembl biotype	protein_coding
OMIM	159980
Entrez	4656

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000241651, ENST00000944760, ENST00000944761

RefSeq mRNA: 1 — MANE Select: NM_002479 NM_002479

CCDS: CCDS1433

Canonical transcript exons

ENST00000241651 — 3 exons

Exon	Start	End
ENSE00000828715	203084647	203084728
ENSE00001323364	203085491	203086012
ENSE00001325479	203083129	203084031

Expression profiles

Bgee: expression breadth broad, 84 present calls, max score 92.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.0992 / max 446.6197, expressed in 120 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16765	2.0539	116
16766	0.0453	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	92.75	gold quality
gastrocnemius	UBERON:0001388	92.70	gold quality
muscle of leg	UBERON:0001383	91.04	gold quality
muscle organ	UBERON:0001630	89.20	gold quality
gluteal muscle	UBERON:0002000	88.31	gold quality
triceps brachii	UBERON:0001509	86.84	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.82	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.58	gold quality
skeletal muscle tissue	UBERON:0001134	85.11	gold quality
vastus lateralis	UBERON:0001379	84.11	silver quality
quadriceps femoris	UBERON:0001377	83.97	silver quality
biceps brachii	UBERON:0001507	83.41	gold quality
endometrium epithelium	UBERON:0004811	82.07	gold quality
parotid gland	UBERON:0001831	81.52	gold quality
cerebellar vermis	UBERON:0004720	81.37	gold quality
heart right ventricle	UBERON:0002080	80.41	gold quality
muscle tissue	UBERON:0002385	77.68	gold quality
vena cava	UBERON:0004087	77.09	gold quality
body of tongue	UBERON:0011876	74.60	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	74.39	gold quality
inferior olivary complex	UBERON:0002127	74.27	gold quality
Brodmann (1909) area 10	UBERON:0013541	72.91	gold quality
type B pancreatic cell	CL:0000169	72.80	gold quality
layer of synovial tissue	UBERON:0007616	72.66	gold quality
tongue	UBERON:0001723	72.62	gold quality
paraflocculus	UBERON:0005351	72.45	gold quality
frontal pole	UBERON:0002795	72.39	gold quality
pons	UBERON:0000988	72.28	gold quality
pharyngeal mucosa	UBERON:0000355	71.97	gold quality
diaphragm	UBERON:0001103	71.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.79

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

69 targets.

Target	Regulation
ACACB	Unknown
ACHE
ACTB
AGER
AKT2
ART1
ATP2A1	Repression
AVP
BARX2
CALM1
CAV3	Unknown
CCND3
CD74
CDH15
CDKN1A	Repression
CELF1	Activation
CHRNG
CKM
DACH2
DES	Activation
EIF3K
FBXO32	Activation
FGF8
FOS	Unknown
GATA4
HJV	Activation
ID2
IGF1
ISYNA1
ITGA7	Activation

JASPAR motifs

Motif	Name	Family
MA0500.2	MYOG	MyoD/ASC-related factors
MA0500.3	MYOG	MyoD/ASC-related factors

JASPAR matrix evidence (PMIDs): PMID:16437161

Upstream regulators (CollecTRI, top): ANGPT1, BHLHE41, DACH2, DNMT3A, ELF4, EZH2, FOS, FOXC1, FOXO1, GATA4, HEY1, HR, ID1, JARID2, JUN, MBD2, MEF2A, MEF2C, MEF2D, MYC, MYF5, MYF6, MYOD1, MYOG, MYRF, NFATC1, NFATC2, NFATC3, NFIA, NR2F2, PAX3, PAX7, PBX1, PPARG, SIX1, SKIL, SMAD3, SMARCA1, SMARCD3, SMARCE1

miRNA regulators (miRDB)

58 targeting MYOG, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1250-3P	99.96	70.04	4038
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-651-3P	99.94	73.48	5177
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-363-5P	99.46	64.51	1015

Literature-anchored findings (GeneRIF, showing 30)

• study showed that a rapid rearrangement of myogenin expression occurs in exercised human skeletal muscles in response to a single bout of exercise (PMID:14997318)
• myogenin and myocyte enhancer factor-2 expression are triggered by membrane hyperpolarization during human myoblast differentiation (PMID:15084602)
• induction of Id1 not only blocks transcriptional activity but also induces myogenin degradation by blocking formation of myogenin-E47 protein complexes. (PMID:15322112)
• there is a functional link between dysferlin and myogenin in the differentiation of skeletal muscle (PMID:16608842)
• 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)
• MYOG is a positive diagnostic for biliary tract rhabdomyosarcoma. (PMID:17378682)
• MYOG had positive staining in this melanotic neuroectodermal tumor. (PMID:17378694)
• Both PCAF and BRG1 are also involved in the activation of the myogenin gene in rhabdomyosarcoma (PMID:17468105)
• transcription of Cugbp1 gene in muscle is regulated by myogenin and E proteins (PMID:17531403)
• NFAT and MyoD cooperation regulates myogenin expression and myogenesis (PMID:18676376)
• Diffuse myogenin expression by immunohistochemistry is an independent marker of poor survival in pediatric rhabdomyosarcoma. (PMID:18708938)
• PAX3 mRNA is an Staufen 1-mediated mRNA decay target whose decay promotes myogenesis whereas myogenin mRNA is a classical nonsense-mediated mRNA decay target encoding a protein required for myogenesis (PMID:19095803)
• Underexpression of myogenin is associated with liver metastases in rhabdomyosarcoma. (PMID:19372547)
• Decreased Jun-D and myogenin expression in muscle wasting of human cachexia. (PMID:19470832)
• After 2 years of denervation, expression of myogenin protein in myonuclei was decreased, but after 3 years of denervation, no expression of myogenin protein in myonuclei was found in denervated posterior cricoarytenoid muscles. (PMID:19961777)
• The physical interaction of CARM1 and PCAF is likely pivotal for the activation of PCAF in the downstream of CARM1 pathway for inducing myogenin under Tetradecanoylphorbol Acetate -induced differentiation. (PMID:20213728)
• Human muscle samples were analysed at different time-points post-denervation to evaluate changes in myogenin expression and their relationship with skeletal muscle atrophy. (PMID:21672341)
• SREBP-1 regulate muscle protein synthesis through the downregulation of the expression of MYOD1, MYOG and MEF2C factors. (PMID:23226416)
• the FACT complex promotes myogenin-dependent transcription (PMID:23364797)
• Our study illustrates that focal myogenin immunoreactivity occurs uncommonly in fibroepithelial polyps of the lower female genital tract. (PMID:23944986)
• Data indicate that muscle MYOG mRNA expression doubled, whereas MSTN protein expression decreased following immobilization. (PMID:24215591)
• Sustained GSK3beta activity represses a critical regulatory step in the myogenic cascade, contributing to the undifferentiated, proliferative phenotype in alveolar rhabdomyosarcoma. (PMID:24577092)
• results indicate that myogenin is a positive regulator in transcriptional regulation of MEGF10 in skeletal muscle (PMID:25044114)
• Findings indicate a interplay between A-kinase anchoring protein 6 (AKAP6) and myogenin. (PMID:26563778)
• Among these targets, dehydrogenase/reductase member 2 DHRS2 and MYO1B were directly regulated by miR1453p in esophageal squamous cell carcinoma (ESCC) cells by dual luciferase reporter assays. Aberrantly expressed DHRS2 and MYOIB were detected in ESCC clinical specimens, and their overexpression enhanced cancer cell aggressiveness. (PMID:30535463)
• PRMT1 promotes MyoD-mediated myogenin expression, for which the enzymatic activity of PRMT1 is needed. The arginine methylation of MyoD by PRMT1 enhances its DNA binding activity and transactivation. (PMID:31634638)
• The SMYD3 methyltransferase promotes myogenesis by activating the myogenin regulatory network. (PMID:31754141)
• CASZ1 plays a critical role in inducing skeletal myogenesis and co-operating to form a feed-forward loop with MYOD and MYOG that is critical for Embryonal rhabdomyosarcoma differentiation. (PMID:32060262)
• Dual-specificity phosphatase 29 is induced during neurogenic skeletal muscle atrophy and attenuates glucocorticoid receptor activity in muscle cell culture. (PMID:32639872)
• Myogenin suppresses apoptosis induced by angiotensin II in human induced pluripotent stem cell-derived cardiomyocytes. (PMID:33743352)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	myog	ENSDARG00000009438
mus_musculus	Myog	ENSMUSG00000026459
rattus_norvegicus	Myog	ENSRNOG00000030743
drosophila_melanogaster	nau	FBGN0002922
caenorhabditis_elegans		WBGENE00001948

Paralogs (3): MYF6 (ENSG00000111046), MYF5 (ENSG00000111049), MYOD1 (ENSG00000129152)

Protein

Protein identifiers

Myogenin — P15173 (reviewed: P15173)

Alternative names: Class C basic helix-loop-helix protein 3, Myogenic factor 4

All UniProt accessions (1): P15173

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber muscle differentiation. However is dispensable for postnatal skeletal muscle growth; phosphorylation by CAMK2G inhibits its transcriptional activity in respons to muscle activity. Required for the recruitment of the FACT complex to muscle-specific promoter regions, thus promoting gene expression initiation. During terminal myoblast differentiation, plays a role as a strong activator of transcription at loci with an open chromatin structure previously initiated by MYOD1. Together with MYF5 and MYOD1, co-occupies muscle-specific gene promoter core regions during myogenesis. Also cooperates with myocyte-specific enhancer factor MEF2D and BRG1-dependent recruitment of SWI/SNF chromatin-remodeling enzymes to alter chromatin structure at myogenic late gene promoters. Facilitates cell cycle exit during terminal muscle differentiation through the up-regulation of miR-20a expression, which in turn represses genes involved in cell cycle progression. Binds to the E-box containing (E1) promoter region of the miR-20a gene. Also plays a role in preventing reversal of muscle cell differentiation. Contributes to the atrophy-related gene expression in adult denervated muscles. Induces fibroblasts to differentiate into myoblasts.

Subunit / interactions. Homodimer and heterodimer with E12; heterodimerization enhances MYOG DNA-binding and transcriptional activities. Interacts with SMARCA4/BRG1/BAF190A. Interacts (via C-terminal region) with SSRP1 and SUPT16H; the interaction is indicative of an interaction with the FACT complex. Interacts with CSRP3.

Subcellular location. Nucleus.

Post-translational modifications. Phosphorylated by CAMK2G on threonine and serine amino acids in a muscle activity-dependent manner. Phosphorylation of Thr-87 impairs both DNA-binding and trans-activation functions in contracting muscles.

RefSeq proteins (1): NP_002470* (*=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 (5 total): modified residue 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15173-F1	68.35	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 77, 79, 87

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-525793	Myogenesis
R-HSA-9839394	TGFBR3 expression
R-HSA-9943411	CHD1 and CHD2 subfamily
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: 197 (showing top): GOBP_POSITIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION, GOBP_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_RESPONSE_TO_ELECTRICAL_STIMULUS, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, LFA1_Q6, CMYB_01, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MUSCLE_CELL_PROLIFERATION

GO Biological Process (30): ossification (GO:0001503), skeletal muscle tissue development (GO:0007519), negative regulation of cell population proliferation (GO:0008285), positive regulation of myotube differentiation (GO:0010831), positive regulation of muscle atrophy (GO:0014737), regulation of skeletal muscle satellite cell proliferation (GO:0014842), response to muscle activity involved in regulation of muscle adaptation (GO:0014873), response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878), striated muscle atrophy (GO:0014891), response to denervation involved in regulation of muscle adaptation (GO:0014894), skeletal muscle cell differentiation (GO:0035914), muscle cell fate commitment (GO:0042693), positive regulation of myoblast differentiation (GO:0045663), positive regulation of transcription by RNA polymerase II (GO:0045944), skeletal muscle fiber development (GO:0048741), positive regulation of skeletal muscle fiber development (GO:0048743), regulation of cell cycle (GO:0051726), cellular response to lithium ion (GO:0071285), cellular response to tumor necrosis factor (GO:0071356), cellular response to growth factor stimulus (GO:0071363), cellular response to estradiol stimulus (GO:0071392), regulation of myoblast fusion (GO:1901739), regulation of DNA-templated transcription (GO:0006355), muscle organ development (GO:0007517), tissue development (GO:0009888), myotube differentiation (GO:0014902), cell differentiation (GO:0030154), muscle cell differentiation (GO:0042692), positive regulation of DNA-templated transcription (GO:0045893), animal organ development (GO:0048513)

GO Molecular Function (14): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), 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 (GO:0001216), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), chromatin DNA binding (GO:0031490), sequence-specific DNA binding (GO:0043565), protein dimerization activity (GO:0046983), E-box binding (GO:0070888), sequence-specific double-stranded DNA binding (GO:1990837), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), protein-DNA complex (GO:0032993)

Reactome top-level categories

Rollup of top-5 pathways:

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription cis-regulatory region binding	4
regulation of muscle adaptation	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
positive regulation of striated muscle cell differentiation	2
muscle atrophy	2
skeletal muscle tissue development	2
regulation of transcription by RNA polymerase II	2
positive regulation of DNA-templated transcription	2
DNA-binding transcription factor activity	2
DNA binding	2
cellular anatomical structure	2
protein-containing complex	2
multicellular organismal process	1
striated muscle tissue development	1
skeletal muscle organ development	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
regulation of myotube differentiation	1
myotube differentiation	1
regulation of muscle atrophy	1
positive regulation of muscle adaptation	1
skeletal muscle satellite cell proliferation	1
regulation of skeletal muscle cell proliferation	1
response to muscle activity	1
response to electrical stimulus	1
striated muscle adaptation	1
response to muscle inactivity	1
cell differentiation	1
muscle cell differentiation	1
cell fate commitment	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
transcription by RNA polymerase II	1
myotube cell development	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

Protein interactions and networks

STRING

2786 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYOG	PAX3	P23760	943
MYOG	PAX7	P23759	933
MYOG	MEF2C	Q06413	907
MYOG	MEF2D	Q14814	851
MYOG	SIX1	Q15475	851
MYOG	MEF2A	Q02078	846
MYOG	MSTN	O14793	829
MYOG	MYH6	P13533	816
MYOG	SRF	P11831	807
MYOG	TCF12	Q99081	788
MYOG	MYH1	P12882	784
MYOG	FBXO32	Q969P5	779
MYOG	MYH3	P11055	765
MYOG	EYA2	O00167	755
MYOG	HDAC4	P56524	746

IntAct

167 interactions, top by confidence:

A	B	Type	Score
MYOG	MLH1	psi-mi:“MI:0915”(physical association)	0.890
MLH1	MYOG	psi-mi:“MI:0915”(physical association)	0.890
MYOG	CLUAP1	psi-mi:“MI:0915”(physical association)	0.780
CLUAP1	MYOG	psi-mi:“MI:0915”(physical association)	0.780
H2AP	MYOG	psi-mi:“MI:0915”(physical association)	0.720
CCDC28A	MYOG	psi-mi:“MI:0915”(physical association)	0.720
MYOG	CCDC28A	psi-mi:“MI:0915”(physical association)	0.720
MYOG	TXNDC9	psi-mi:“MI:0915”(physical association)	0.670
EIF4E2	MYOG	psi-mi:“MI:0915”(physical association)	0.670
MYOG	FTL	psi-mi:“MI:0915”(physical association)	0.670
MYOG	IKBIP	psi-mi:“MI:0915”(physical association)	0.670
CCDC28A	MYOG	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (88): MYOG (Two-hybrid), MYOG (Two-hybrid), MYOG (Two-hybrid), EIF4E2 (Two-hybrid), TXNDC9 (Two-hybrid), CLUAP1 (Two-hybrid), HYPM (Two-hybrid), CCDC28A (Two-hybrid), TTC25 (Two-hybrid), IKBIP (Two-hybrid), PACRGL (Two-hybrid), TCF4 (Affinity Capture-MS), TCF3 (Affinity Capture-MS), TCF12 (Affinity Capture-MS), NES (Affinity Capture-MS)

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: O96642, P10085, P12979, P12980, P13349, P13904, P15172, P15173, P15375, P16075, P16076, P17667, P17920, P19335, P19359, P20428, P21572, P22816, P22980, P23409, P24699, P24700, P29331, P34060, P34061, P41894, P49811, P49812, P50553, Q00492, Q01795, Q02067, Q02346, Q08856, Q17295, Q3YFL6, Q64305, Q6PUV5, Q6Q2A8, Q6SYV5

SIGNOR signaling

38 interactions.

A	Effect	B	Mechanism
MYOD1	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
SMARCD3	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
“MYOD1/SWI/SNF complex”	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
MYOG	“form complex”	“Myog/SWI/SNF complex”	binding
MYOG	up-regulates	MYOG	“transcriptional regulation”
“Myog/SWI/SNF complex”	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
ZNHIT1	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
CDK4	down-regulates	MYOG	binding
CyclinD/CDK4	down-regulates	MYOG	binding
MYOG	up-regulates	“SWI/SNF complex”	binding
NFATC2	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
JARID2	“down-regulates quantity by repression”	MYOG	“transcriptional regulation”
SUV39H1	“down-regulates quantity by repression”	MYOG	“transcriptional regulation”
TBX2	“down-regulates activity”	MYOG	binding
MYOG	“down-regulates quantity by repression”	CDKN1A	“transcriptional regulation”
CIITA	down-regulates	MYOG	binding
MYOG	up-regulates	Skeletal_muscle_differentiation
MYOG	“up-regulates quantity”	mir-133a1
SIX1	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
TGFB1	down-regulates	MYOG
HEY1	“down-regulates quantity by repression”	MYOG	“transcriptional regulation”
MDFI	“down-regulates activity”	MYOG	binding
CSRP3	“up-regulates activity”	MYOG	binding
MYOG	“up-regulates quantity by expression”	DES	“transcriptional regulation”
MYOG	“up-regulates quantity by expression”	ITGA7	“transcriptional regulation”
TEK	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
ANGPT1	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
MYOG	“down-regulates quantity by destabilization”	PAX7

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional Regulation by TP53	5	11.1×	5e-03
Signaling by Receptor Tyrosine Kinases	5	9.2×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

366 predictions. Top by Δscore:

Variant	Effect	Δscore
1:203084641:A:AC	donor_gain	1.0000
1:203084642:C:CC	donor_gain	1.0000
1:203084643:TTA:T	donor_loss	1.0000
1:203084644:T:TG	donor_loss	1.0000
1:203084645:A:AC	donor_gain	1.0000
1:203084645:A:C	donor_loss	1.0000
1:203084645:AC:A	donor_gain	1.0000
1:203084645:ACC:A	donor_gain	1.0000
1:203084645:ACCC:A	donor_gain	1.0000
1:203084645:ACCCC:A	donor_gain	1.0000
1:203084646:C:CT	donor_gain	1.0000
1:203084646:CC:C	donor_gain	1.0000
1:203084646:CCC:C	donor_gain	1.0000
1:203084646:CCCC:C	donor_gain	1.0000
1:203084646:CCCCC:C	donor_gain	1.0000
1:203085486:CTTA:C	donor_loss	1.0000
1:203085487:TTA:T	donor_loss	1.0000
1:203085488:TA:T	donor_loss	1.0000
1:203085489:A:AC	donor_gain	1.0000
1:203085489:AC:A	donor_gain	1.0000
1:203085489:ACC:A	donor_gain	1.0000
1:203085489:ACCC:A	donor_gain	1.0000
1:203085490:C:CT	donor_gain	1.0000
1:203085490:CC:C	donor_gain	1.0000
1:203085490:CCC:C	donor_gain	1.0000
1:203085490:CCCC:C	donor_gain	1.0000
1:203085490:CCCCT:C	donor_gain	1.0000
1:203085534:T:A	donor_gain	1.0000
1:203085537:T:TA	donor_gain	1.0000
1:203084030:ATC:A	acceptor_loss	0.9900

AlphaMissense

1457 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:203085567:A:G	L132P	1.000
1:203085588:G:T	A125D	1.000
1:203085597:A:G	L122P	1.000
1:203085597:A:T	L122Q	1.000
1:203085608:C:A	K118N	1.000
1:203085608:C:G	K118N	1.000
1:203085647:C:A	K105N	1.000
1:203085647:C:G	K105N	1.000
1:203085651:A:G	L104P	1.000
1:203085659:G:C	F101L	1.000
1:203085659:G:T	F101L	1.000
1:203085660:A:C	F101C	1.000
1:203085660:A:G	F101S	1.000
1:203085661:A:G	F101L	1.000
1:203085681:A:G	L94P	1.000
1:203085681:A:T	L94H	1.000
1:203085683:C:A	R93S	1.000
1:203085683:C:G	R93S	1.000
1:203085684:C:A	R93M	1.000
1:203085692:C:A	E90D	1.000
1:203085692:C:G	E90D	1.000
1:203085693:T:A	E90V	1.000
1:203085694:C:T	E90K	1.000
1:203085695:C:A	R89S	1.000
1:203085695:C:G	R89S	1.000
1:203085696:C:A	R89M	1.000
1:203085576:A:T	I129N	0.999
1:203085589:C:G	A125P	0.999
1:203085594:C:G	R123P	0.999
1:203085597:A:C	L122R	0.999

dbSNP variants (sampled 300 via entrez): RS1000969987 (1:203083154 T>C), RS1000978200 (1:203082691 G>A,C,T), RS1001283955 (1:203083130 T>C), RS1001634508 (1:203085895 G>C), RS1001748892 (1:203086061 A>C,G), RS1002634532 (1:203087155 C>A,T), RS1004696246 (1:203087705 A>G), RS1004828345 (1:203083073 T>C,G), RS1005138847 (1:203082797 C>T), RS1005300107 (1:203086657 C>G), RS1005535632 (1:203086686 G>T), RS1005599377 (1:203087100 G>A), RS1005724423 (1:203086302 G>A,C), RS1007031731 (1:203086276 G>T), RS1007583897 (1:203086516 C>T)

Disease associations

OMIM: gene MIM:159980 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007798_15	Asthma	9.000000e-11
GCST007800_75	Asthma (childhood onset)	5.000000e-21
GCST009798_35	Asthma	8.000000e-12

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases mutagenesis, decreases expression, decreases reaction, affects methylation	3
tetrahydrocannabivarin 9	increases expression, increases reaction	1
bisphenol A	increases methylation	1
alpha-naphthoflavone	decreases expression, decreases reaction	1
boric acid	affects expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
incobotulinumtoxinA	decreases expression	1
cannabidivarin	increases expression, increases reaction	1
Fulvestrant	decreases expression, decreases reaction	1
Cadmium	increases abundance, increases expression	1
Cannabidiol	increases expression	1
Carmustine	decreases expression	1
Estradiol	affects binding, increases expression	1
Indican	decreases expression	1
Dihydrotestosterone	increases expression	1
Toluene	decreases methylation, increases expression	1
Valproic Acid	increases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

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