MYO7B

Summary

MYO7B (myosin VIIB, HGNC:7607) is a protein-coding gene on chromosome 2q14.3, encoding Unconventional myosin-VIIb (Q6PIF6). Myosins are actin-based motor molecules with ATPase activity.

The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action.

Source: NCBI Gene 4648 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 456 total
• MANE Select transcript: NM_001393586

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7607
Approved symbol	MYO7B
Name	myosin VIIB
Location	2q14.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169994
Ensembl biotype	protein_coding
OMIM	606541
Entrez	4648

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 3 retained_intron

ENST00000409090, ENST00000409816, ENST00000428314, ENST00000437387, ENST00000491278, ENST00000494959, ENST00000496841, ENST00000897058, ENST00000897059

RefSeq mRNA: 3 — MANE Select: NM_001393586 NM_001080527, NM_001393586, NM_001393594

CCDS: CCDS46405, CCDS92860, CCDS92861

Canonical transcript exons

ENST00000409816 — 48 exons

Exon	Start	End
ENSE00001019249	127634176	127634289
ENSE00001587703	127637316	127637726
ENSE00002434718	127584778	127584913
ENSE00002436761	127608708	127608878
ENSE00002447972	127609506	127609715
ENSE00002448384	127590092	127590229
ENSE00002459358	127612476	127612603
ENSE00002462414	127565233	127565385
ENSE00002468688	127584122	127584332
ENSE00002469382	127607206	127607424
ENSE00002473104	127592794	127592946
ENSE00002478440	127573920	127574062
ENSE00002482158	127581891	127582010
ENSE00002494756	127576595	127576708
ENSE00002496372	127588392	127588555
ENSE00002496761	127569789	127569910
ENSE00002498247	127578133	127578286
ENSE00002500732	127564153	127564266
ENSE00002501602	127566643	127566827
ENSE00002503619	127605844	127605928
ENSE00002510660	127609849	127610016
ENSE00002513969	127582304	127582446
ENSE00002524427	127596462	127596556
ENSE00002530892	127580746	127580822
ENSE00002533082	127593546	127593644
ENSE00002613344	127612250	127612327
ENSE00002718685	127559700	127559740
ENSE00002732020	127634596	127634683
ENSE00003459055	127633258	127633363
ENSE00003463533	127636794	127636913
ENSE00003471915	127629645	127629826
ENSE00003490805	127636208	127636324
ENSE00003515643	127635722	127635907
ENSE00003518226	127626975	127627092
ENSE00003549481	127636545	127636628
ENSE00003553471	127631206	127631363
ENSE00003557332	127631600	127631753
ENSE00003567251	127627184	127627310
ENSE00003572868	127625368	127625535
ENSE00003627768	127620340	127620466
ENSE00003647294	127623202	127623375
ENSE00003662295	127630778	127630908
ENSE00003677194	127621982	127622101
ENSE00003678743	127628372	127628535
ENSE00003684058	127635120	127635226
ENSE00003688352	127632246	127632401
ENSE00003786599	127624093	127624320
ENSE00003931675	127535683	127535831

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 98.17.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5310 / max 520.8907, expressed in 91 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22434	0.8648	42
22433	0.3172	28
22442	0.1427	30
22439	0.1322	24
22435	0.0741	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	98.17	gold quality
mucosa of transverse colon	UBERON:0004991	96.87	gold quality
duodenum	UBERON:0002114	94.77	gold quality
transverse colon	UBERON:0001157	94.48	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.22	gold quality
small intestine	UBERON:0002108	93.56	gold quality
jejunal mucosa	UBERON:0000399	93.04	gold quality
spleen	UBERON:0002106	90.52	gold quality
rectum	UBERON:0001052	90.51	gold quality
intestine	UBERON:0000160	89.85	gold quality
colon	UBERON:0001155	89.27	gold quality
large intestine	UBERON:0000059	88.87	gold quality
kidney epithelium	UBERON:0004819	88.71	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.81	gold quality
upper arm skin	UBERON:0004263	85.47	gold quality
jejunum	UBERON:0002115	84.94	gold quality
heart left ventricle	UBERON:0002084	83.96	gold quality
right lung	UBERON:0002167	83.77	gold quality
cardiac ventricle	UBERON:0002082	83.73	gold quality
gall bladder	UBERON:0002110	83.39	gold quality
apex of heart	UBERON:0002098	83.28	gold quality
colonic mucosa	UBERON:0000317	83.04	gold quality
corpus epididymis	UBERON:0004359	82.96	gold quality
adult mammalian kidney	UBERON:0000082	81.89	gold quality
metanephros cortex	UBERON:0010533	81.79	gold quality
parotid gland	UBERON:0001831	81.72	gold quality
colonic epithelium	UBERON:0000397	81.34	gold quality
mucosa of sigmoid colon	UBERON:0004993	81.11	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	81.01	gold quality
vena cava	UBERON:0004087	80.17	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting MYO7B, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-6742-5P	96.32	64.01	869
HSA-MIR-744-5P	93.78	65.29	230
HSA-MIR-4707-3P	86.55	62.02	99

Literature-anchored findings (GeneRIF, showing 2)

• Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease. (PMID:19724895)
• The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a. (PMID:28439001)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo7ba	ENSDARG00000044441
danio_rerio	myo7bb	ENSDARG00000077201
mus_musculus	Myo7b	ENSMUSG00000024388
rattus_norvegicus	Myo7b	ENSRNOG00000015035
drosophila_melanogaster	Myo28B1	FBGN0040299
caenorhabditis_elegans		WBGENE00002039

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-VIIb — Q6PIF6 (reviewed: Q6PIF6)

All UniProt accessions (4): Q6PIF6, A0A8C8KL71, B9A063, C9JC21

UniProt curated annotations — full annotation on UniProt →

Function. Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli.

Subunit / interactions. Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5. Interacts with CDHR2. Interacts with CDHR5. Interacts with USH1C. Interacts with ANKS4B; requires initial interaction with USH1C. Interacts with CALML4; the interaction mediates the association of CALML4 with the IMAC/intermicrovillar adhesion complex.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Microvillus.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PIF6-1	1	yes
Q6PIF6-2	2

RefSeq proteins (3): NP_001073996, NP_001380515, NP_001380523 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR000299	FERM_domain	Domain
IPR000857	MyTH4_dom	Domain
IPR001452	SH3_domain	Domain
IPR001609	Myosin_head_motor_dom-like	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR035963	FERM_2	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036106	MYSc_Myo7	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR038185	MyTH4_dom_sf	Homologous_superfamily
IPR041793	MyoVII_FERM_C1	Domain
IPR041794	MyoVII_FERM_C2	Domain
IPR051567	Unconventional_Myosin_ATPase	Family
IPR057130	Myosin_VII_N	Domain

Pfam: PF00063, PF00373, PF00612, PF00784, PF07653, PF21989, PF21998, PF24123

UniProt features (71 total): helix 24, domain 13, strand 12, turn 6, sequence variant 4, region of interest 3, modified residue 3, splice variant 2, sequence conflict 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5XBF	X-RAY DIFFRACTION	1.8
5MV8	X-RAY DIFFRACTION	1.88
5MV7	X-RAY DIFFRACTION	2.44

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PIF6-F1	78.34	0.19

Functional residue map

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

Ligand- & substrate-binding residues (1): 158–165

Post-translational modifications (3): 904, 1371, 1645

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_VESICLE_MEDIATED_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION, GOMF_ACTIN_BINDING, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_IMPORT_INTO_CELL, GOBP_ENDOCYTOSIS, chr2q14, GOCC_APICAL_PART_OF_CELL, GOCC_MICROVILLUS, GOCC_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS, GOCC_ACTIN_BASED_CELL_PROJECTION

GO Biological Process (7): endocytosis (GO:0006897), actin filament organization (GO:0007015), sensory organ development (GO:0007423), sensory perception of sound (GO:0007605), actin filament-based movement (GO:0030048), cell differentiation (GO:0030154), brush border assembly (GO:1904970)

GO Molecular Function (7): microfilament motor activity (GO:0000146), ATP binding (GO:0005524), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), microvillus (GO:0005902), brush border (GO:0005903), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myosin complex (GO:0016459), apical cytoplasm (GO:0090651), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
apical part of cell	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
animal organ development	1
sensory perception of mechanical stimulus	1
actin filament-based process	1
cellular developmental process	1
cellular component assembly	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
actin filament bundle	1
actin-based cell projection	1
microvillus	1
cluster of actin-based cell projections	1
cytoskeleton	1
actin cytoskeleton	1
protein-containing complex	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1064 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO7B	ANKS4B	Q8N8V4	899
MYO7B	CDHR2	Q9BYE9	790
MYO7B	E9PNW1	E9PNW1	778
MYO7B	CDHR5	Q9HBB8	702
MYO7B	WHRN	Q9P202	581
MYO7B	CALML4	Q96GE6	486
MYO7B	CALM1	P02593	462
MYO7B	CALML6	Q8TD86	451
MYO7B	CALML3	P27482	450
MYO7B	CALML5	Q9NZT1	450
MYO7B	PDZD7	Q9H5P4	423
MYO7B	MYO7A	P78427	421
MYO7B	CDH23	Q9H251	414
MYO7B	ESPN	B1AK53	397
MYO7B	LIMA1	Q9UHB6	396

IntAct

9 interactions, top by confidence:

A	B	Type	Score
CDHR2	MYO7B	psi-mi:“MI:0915”(physical association)	0.460
CDHR2	MYO7B	psi-mi:“MI:0403”(colocalization)	0.460
MYO7B	HADHA	psi-mi:“MI:0915”(physical association)	0.400
CDHR5	MYO7B	psi-mi:“MI:0915”(physical association)	0.400
MYO7B	USH1C	psi-mi:“MI:0915”(physical association)	0.400
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): MYO7B (Proximity Label-MS), MYO7B (Reconstituted Complex), MYO7B (Cross-Linking-MS (XL-MS)), MYO7B (Cross-Linking-MS (XL-MS)), MYO7B (Affinity Capture-MS)

ESM2 similar proteins: A0MP03, A2AQP0, A5PF48, A7E2Y1, B0I1T2, D3ZJP6, E7F9L8, F1PRN2, F4IUG9, F4JM19, F8VQB6, O00159, O88329, O94832, P08799, P10568, P79114, P91443, P97479, Q01989, Q03479, Q0WPU1, Q13402, Q17LW0, Q17R14, Q1EG27, Q23978, Q23979, Q27966, Q29P71, Q5SUA5, Q5SYD0, Q5ZLA6, Q5ZMC2, Q622K8, Q63355, Q63357, Q6GPA1, Q6PIF6, Q8K3H5

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, E7F9L8, E9Q634, F1PRN2, F4I5Q6, F4IRU3, F4IUG9, F4IVR7, F4JM19, F4K5J1, O00159, O00160, O43795, O88329, O94832, P08799, P0CP00, P0CP01, P10568, P10569, P19524, P19706

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	330
Likely benign	51
Benign	43

Top pathogenic / likely-pathogenic (0)

SpliceAI

8644 predictions. Top by Δscore:

Variant	Effect	Δscore
2:127564143:T:A	acceptor_gain	1.0000
2:127564147:CTCCA:C	acceptor_loss	1.0000
2:127564148:TCCA:T	acceptor_loss	1.0000
2:127564149:CCA:C	acceptor_loss	1.0000
2:127564150:CAGGG:C	acceptor_loss	1.0000
2:127564151:A:AG	acceptor_gain	1.0000
2:127564151:AG:A	acceptor_gain	1.0000
2:127564152:G:GA	acceptor_loss	1.0000
2:127564152:G:GG	acceptor_gain	1.0000
2:127564152:GG:G	acceptor_gain	1.0000
2:127564152:GGGT:G	acceptor_gain	1.0000
2:127564247:TTG:T	donor_gain	1.0000
2:127565381:TCTAT:T	donor_gain	1.0000
2:127565386:G:GG	donor_gain	1.0000
2:127566641:A:AG	acceptor_gain	1.0000
2:127566642:G:GA	acceptor_loss	1.0000
2:127566642:G:GG	acceptor_gain	1.0000
2:127566642:GA:G	acceptor_gain	1.0000
2:127566642:GACA:G	acceptor_gain	1.0000
2:127566642:GACAT:G	acceptor_gain	1.0000
2:127566825:CAGG:C	donor_loss	1.0000
2:127566827:GGTGA:G	donor_loss	1.0000
2:127566828:G:GC	donor_loss	1.0000
2:127569787:AGC:A	acceptor_gain	1.0000
2:127569788:GCG:G	acceptor_gain	1.0000
2:127569788:GCGGC:G	acceptor_gain	1.0000
2:127569906:GGAGG:G	donor_gain	1.0000
2:127569907:GAGG:G	donor_gain	1.0000
2:127569907:GAGGG:G	donor_gain	1.0000
2:127569909:GG:G	donor_gain	1.0000

AlphaMissense

13927 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:127637335:T:C	L2090P	0.996
2:127636855:T:C	F2064S	0.995
2:127569892:G:C	A192P	0.994
2:127636833:T:A	W2057R	0.994
2:127636833:T:C	W2057R	0.994
2:127584160:T:C	L461P	0.993
2:127635167:T:A	W1895R	0.993
2:127635167:T:C	W1895R	0.993
2:127635734:T:G	Y1919D	0.993
2:127636854:T:C	F2064L	0.993
2:127636856:C:A	F2064L	0.993
2:127636856:C:G	F2064L	0.993
2:127636899:T:C	C2079R	0.993
2:127565354:T:C	L85P	0.992
2:127573964:T:C	F213L	0.992
2:127573966:T:A	F213L	0.992
2:127573966:T:G	F213L	0.992
2:127635899:T:A	W1974R	0.992
2:127635899:T:C	W1974R	0.992
2:127636313:T:C	F2012L	0.992
2:127636315:C:A	F2012L	0.992
2:127636315:C:G	F2012L	0.992
2:127636585:C:A	A2029D	0.992
2:127637338:T:C	L2091P	0.992
2:127569833:T:C	L172P	0.991
2:127573958:A:C	S211R	0.991
2:127573960:C:A	S211R	0.991
2:127573960:C:G	S211R	0.991
2:127582407:T:C	L435P	0.991
2:127636302:G:A	G2008E	0.991

dbSNP variants (sampled 300 via entrez): RS1000050044 (2:127633697 C>G,T), RS1000095118 (2:127580897 T>G), RS1000102926 (2:127609544 C>A), RS1000140348 (2:127589172 C>A,G,T), RS1000143450 (2:127548054 C>T), RS1000148182 (2:127621940 T>C), RS1000201050 (2:127561063 A>G), RS1000206427 (2:127541765 G>A), RS1000214682 (2:127630262 C>T), RS1000259020 (2:127557587 C>T), RS1000324853 (2:127583310 C>T), RS1000370883 (2:127563696 C>T), RS1000400801 (2:127604439 G>A), RS1000419729 (2:127551681 A>G), RS1000432307 (2:127569545 C>A,G,T)

Disease associations

OMIM: gene MIM:606541 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neuromuscular disease (MONDO:0019056)

Orphanet (1): Neuromuscular disease (Orphanet:68381)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002686_4	Protein C levels	4.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004633	protein C measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009468	Neuromuscular Diseases	C10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation, increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
trametinib	decreases expression, affects cotreatment	1
NVP-BKM120	decreases expression, affects cotreatment	1
Allergens	decreases expression	1
Arsenic	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation, increases methylation	1
Testosterone	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227	PHASE3	COMPLETED	The Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108	PHASE3	COMPLETED	The Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096	PHASE3	COMPLETED	A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814	PHASE3	TERMINATED	Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320	PHASE3	COMPLETED	Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855	PHASE3	ACTIVE_NOT_RECRUITING	Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359	PHASE2	TERMINATED	Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149	PHASE2	COMPLETED	Patient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072	PHASE2	TERMINATED	Evaluation of Vital Capacity
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528	PHASE2	COMPLETED	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580	PHASE2	RECRUITING	Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935	PHASE2	NOT_YET_RECRUITING	A Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00252252	PHASE1	COMPLETED	AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741	PHASE1	UNKNOWN	Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984	PHASE1	COMPLETED	Therapeutic Riding and Neuromuscular Disease
NCT01758510	PHASE1	COMPLETED	Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034	PHASE1	COMPLETED	Study of Pioglitazone in Sporadic Inclusion Body Myositis
NCT05730842	PHASE1	COMPLETED	Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT03272802	PHASE2/PHASE3	UNKNOWN	Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00860951	PHASE1/PHASE2	COMPLETED	P300 Brain Computer Interface Keyboard to Operate Assistive Technology
NCT02362425	PHASE1/PHASE2	COMPLETED	Antioxidant Therapy in RYR1-Related Congenital Myopathy
NCT00001201	Not specified	COMPLETED	Evaluation of Neuromuscular Disease
NCT00002044	Not specified	COMPLETED	A Pilot Study To Evaluate the Effect of Retrovir (Zidovudine: AZT) in the Treatment of Human Immunodeficiency Virus (HIV) Associated Dementia and Neuromuscular Diseases
NCT00004553	Not specified	COMPLETED	Electromyography to Diagnose Neuromuscular Disorders
NCT00015470	Not specified	COMPLETED	Diagnostic Evaluation of Patients With Neuromuscular Disease
NCT00017745	Not specified	COMPLETED	Phenotype/Genotype Correlations in Neuromuscular Disorders
NCT00695591	Not specified	COMPLETED	Home Sleep Testing in Neuromuscular Disease Patients