TOR1AIP2

Summary

TOR1AIP2 (torsin 1A interacting protein 2, HGNC:24055) is a protein-coding gene on chromosome 1q25.2, encoding Torsin-1A-interacting protein 2 (Q8NFQ8). Required for endoplasmic reticulum integrity.

One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined.

Source: NCBI Gene 163590 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 20 total — 1 pathogenic
• MANE Select transcript: NM_001199260

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24055
Approved symbol	TOR1AIP2
Name	torsin 1A interacting protein 2
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	LULL1, NET9, IFRG15
Ensembl gene	ENSG00000169905
Ensembl biotype	protein_coding
OMIM	614513
Entrez	163590

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 24 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000367612, ENST00000474318, ENST00000482587, ENST00000483123, ENST00000495650, ENST00000609928, ENST00000894825, ENST00000894826, ENST00000894827, ENST00000894828, ENST00000894829, ENST00000894830, ENST00000894831, ENST00000894832, ENST00000894833, ENST00000894834, ENST00000894835, ENST00000894836, ENST00000894837, ENST00000894838, ENST00000936116, ENST00000936117, ENST00000942404, ENST00000942405, ENST00000942406, ENST00000942407

RefSeq mRNA: 9 — MANE Select: NM_001199260 NM_001199260, NM_001349931, NM_001349933, NM_001349934, NM_001349935, NM_001349936, NM_001349937, NM_022347, NM_145034

CCDS: CCDS1334, CCDS53439

Canonical transcript exons

ENST00000609928 — 7 exons

Exon	Start	End
ENSE00001120664	179847535	179847636
ENSE00001120667	179850845	179851363
ENSE00001231760	179852632	179852811
ENSE00002342499	179877239	179877373
ENSE00003703145	179839976	179846828
ENSE00003707494	179865436	179865854
ENSE00003707760	179877693	179877803

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 98.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.8428 / max 310.2371, expressed in 1820 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16092	40.9018	1820
16091	7.7865	1756
16086	0.1545	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.31	gold quality
jejunal mucosa	UBERON:0000399	97.46	gold quality
germinal epithelium of ovary	UBERON:0001304	96.62	gold quality
parietal pleura	UBERON:0002400	95.71	gold quality
amniotic fluid	UBERON:0000173	95.69	gold quality
pleura	UBERON:0000977	94.81	gold quality
visceral pleura	UBERON:0002401	94.04	gold quality
tibia	UBERON:0000979	93.84	gold quality
esophagus squamous epithelium	UBERON:0006920	93.69	gold quality
buccal mucosa cell	CL:0002336	93.60	gold quality
pericardium	UBERON:0002407	93.53	gold quality
seminal vesicle	UBERON:0000998	93.45	gold quality
jejunum	UBERON:0002115	93.18	gold quality
tendon of biceps brachii	UBERON:0008188	92.87	gold quality
epithelium of esophagus	UBERON:0001976	92.80	gold quality
placenta	UBERON:0001987	92.80	gold quality
decidua	UBERON:0002450	92.61	gold quality
penis	UBERON:0000989	92.26	gold quality
tendon	UBERON:0000043	91.95	gold quality
lower lobe of lung	UBERON:0008949	91.63	gold quality
calcaneal tendon	UBERON:0003701	91.61	gold quality
stromal cell of endometrium	CL:0002255	91.53	gold quality
gingival epithelium	UBERON:0001949	91.45	gold quality
duodenum	UBERON:0002114	91.36	gold quality
liver	UBERON:0002107	91.23	gold quality
islet of Langerhans	UBERON:0000006	91.05	gold quality
palpebral conjunctiva	UBERON:0001812	91.01	gold quality
gingiva	UBERON:0001828	90.89	gold quality
oocyte	CL:0000023	90.76	gold quality
medial globus pallidus	UBERON:0002477	90.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NANOG, POU5F1

miRNA regulators (miRDB)

226 targeting TOR1AIP2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-4803	99.98	71.99	3117

Literature-anchored findings (GeneRIF, showing 6)

• identifed a novel transmembrane protein, lumenal domain like LAP1 (LULL1), which appears to interact with torsinA; it resides in the main endoplasmic reticulum. (PMID:15767459)
• Data suggest that LULL1 regulates the distribution and activity of TorA within the ER and NE lumen and reveal functional defects in the mutant protein responsible for DYT1 dystonia. (PMID:19339278)
• LAP1 and LULL1 as regulatory cofactors that are responsible for the activation of TorA’s ATPase activity. (PMID:23569223)
• LAP1 and LULL1 regulate Torsin ATPase activity through an active site complementation mechanism. (PMID:25352667)
• The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1. (PMID:26041288)
• A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 activator interactions that separate the healthy from the diseased state. (PMID:27490483)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:112962	ENSDARG00000069102
danio_rerio	si:dkeyp-82a1.6	ENSDARG00000094336
mus_musculus	Tor1aip2	ENSMUSG00000050565
rattus_norvegicus	Tor1aip2	ENSRNOG00000024849

Paralogs (1): TOR1AIP1 (ENSG00000143337)

Protein

Protein identifiers

Torsin-1A-interacting protein 2 — Q8NFQ8 (reviewed: Q8NFQ8, Q9H496)

Alternative names: Lumenal domain-like LAP1

All UniProt accessions (4): Q8NFQ8, Q9H496, A0A096LNM1, A0A6B9D1Q5

UniProt curated annotations — full annotation on UniProt →

Function. Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.

Subunit / interactions. Interacts with TOR1A and TOR1B (ATP-bound).

Subcellular location. Endoplasmic reticulum membrane. Nucleus membrane.

Similarity. Belongs to the TOR1AIP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NFQ8-1	TOR1AIP2	yes
Q9H496-1	IFRG15

RefSeq proteins (9): NP_001186189, NP_001336860, NP_001336862, NP_001336863, NP_001336864, NP_001336865, NP_001336866, NP_071742, NP_659471 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008662	TOIP1/2	Family
IPR038599	LAP1C-like_C_sf	Homologous_superfamily
IPR046753	TOIP1/2_C	Domain
IPR046754	TOIP1/2_N	Domain

Pfam: PF05609, PF20443

UniProt features (41 total): helix 12, modified residue 7, strand 7, compositionally biased region 4, chain 2, topological domain 2, turn 2, region of interest 2, initiator methionine 1, glycosylation site 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5J1S	X-RAY DIFFRACTION	1.4
5J1T	X-RAY DIFFRACTION	1.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFQ8-F1	69.89	0.45
AF-Q9H496-F1	63.86	0.00

Antibody-complex structures (SAbDab): 2 — 5J1S, 5J1T

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 (7): 2, 13, 93, 120, 163, 176, 193

Glycosylation sites (1): 286

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 213 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MAZ_Q6, GGGTGGRR_PAX4_03, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, FOSTER_TOLERANT_MACROPHAGE_UP, DOANE_RESPONSE_TO_ANDROGEN_DN, LIAO_METASTASIS, TGANTCA_AP1_C, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, IK2_01, GOBP_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GOBP_MEMBRANE_ORGANIZATION

GO Biological Process (4): endoplasmic reticulum organization (GO:0007029), positive regulation of ATP-dependent activity (GO:0032781), membrane organization (GO:0061024), protein localization to nuclear envelope (GO:0090435)

GO Molecular Function (3): ATPase activator activity (GO:0001671), ATPase binding (GO:0051117), protein binding (GO:0005515)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), nuclear membrane (GO:0031965), nucleus (GO:0005634), endomembrane system (GO:0012505)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	2
intracellular membrane-bounded organelle	2
organelle membrane	2
cellular anatomical structure	2
organelle organization	1
endomembrane system organization	1
regulation of ATP-dependent activity	1
positive regulation of molecular function	1
cellular component organization	1
protein localization to nucleus	1
molecular function activator activity	1
enzyme binding	1
binding	1
cytoplasm	1
endomembrane system	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
nucleus	1
nuclear envelope	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TOR1AIP2	TOR1A	O14656	983
TOR1AIP2	TOR1B	O14657	870
TOR1AIP2	TOR3A	Q9H497	673
TOR1AIP2	TOR2A	Q5JU69	654
TOR1AIP2	SUN2	Q9UH99	643
TOR1AIP2	SUN1	O94901	522
TOR1AIP2	C6orf52	Q5T4I8	484
TOR1AIP2	TDRD5	Q8NAT2	482
TOR1AIP2	SNAPIN	O95295	480
TOR1AIP2	FAM163A	Q96GL9	468
TOR1AIP2	CEP350	Q5VT06	464
TOR1AIP2	TM7SF2	O76062	461
TOR1AIP2	LRRC7	Q96NW7	446
TOR1AIP2	TOR4A	Q9NXH8	439
TOR1AIP2	SCCPDH	Q8NBX0	418

IntAct

92 interactions, top by confidence:

A	B	Type	Score
TOR1A	TOR1AIP2	psi-mi:“MI:0915”(physical association)	0.810
TOR1A	TOR1AIP2	psi-mi:“MI:0407”(direct interaction)	0.810
TOR1AIP2	TOR1A	psi-mi:“MI:0407”(direct interaction)	0.810
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
RAB15	RAP1GDS1	psi-mi:“MI:0914”(association)	0.640
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ABHD18	HSPD1	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TOR1A	TOR1B	psi-mi:“MI:0914”(association)	0.530
TIMP3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
ARL6	SART1	psi-mi:“MI:0914”(association)	0.510
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
	TOR1A	psi-mi:“MI:0882”(atpase reaction)	0.440
	TOR1B	psi-mi:“MI:0882”(atpase reaction)	0.440
	TOR1AIP2	psi-mi:“MI:0882”(atpase reaction)	0.440
	PGRMC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (777): TOR1AIP2 (Two-hybrid), TOR1B (Affinity Capture-Western), TOR1AIP2 (Reconstituted Complex), TOR1AIP2 (Affinity Capture-Western), TOR1A (Affinity Capture-Western), TOR1AIP2 (Co-purification), TOR1AIP2 (Affinity Capture-Western), TOR1AIP2 (Proximity Label-MS), TOR1AIP2 (Proximity Label-MS), TOR1AIP2 (Affinity Capture-MS), TOR1AIP2 (Proximity Label-MS), TOR1AIP2 (Affinity Capture-MS), SH3BP4 (Affinity Capture-MS), MCU (Affinity Capture-MS), TOR1AIP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8HTT5, A1A4L4, A6QLD2, A8T6P4, F1N4E5, O02776, O35144, O60303, O88622, O94901, Q1LVK9, Q2M243, Q3UH68, Q3UQI9, Q3V0J1, Q4G0A6, Q5BLK4, Q5JTV8, Q5PQX1, Q5R7A3, Q5RF72, Q5RJ80, Q61029, Q6A037, Q6IRU7, Q6P1H6, Q6P752, Q71M44, Q76LL6, Q76N89, Q7T3T8, Q7T3T9, Q7TNY7, Q7TP65, Q80VH0, Q86W56, Q86XL3, Q8BVV7, Q8BYU6, Q8K3I4

Diamond homologs: F1N4E5, Q5JTV8, Q5PQX1, Q5R7A3, Q6P752, Q8BYU6, Q8NFQ8, Q921T2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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
Cargo trafficking to the periciliary membrane	5	17.2×	4e-04
Aggrephagy	5	17.2×	4e-04
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	5	13.4×	8e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	12.9×	4e-04
Autophagy	5	10.3×	1e-03
Cilium Assembly	6	9.1×	8e-04
Macroautophagy	5	8.0×	3e-03
Neurotransmitter receptors and postsynaptic signal transmission	5	7.0×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
253059	NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs)	Pathogenic

SpliceAI

704 predictions. Top by Δscore:

Variant	Effect	Δscore
1:179877691:A:AC	donor_gain	1.0000
1:179877692:C:CC	donor_gain	1.0000
1:179877692:CA:C	donor_gain	0.9900
1:179877692:CAA:C	donor_gain	0.9900
1:179882977:GGTGA:G	donor_loss	0.9900
1:179882979:T:G	donor_loss	0.9900
1:179877687:A:AC	donor_gain	0.9800
1:179877687:ACTT:A	donor_loss	0.9800
1:179877688:C:CC	donor_gain	0.9800
1:179877689:TTACA:T	donor_loss	0.9800
1:179877691:ACAA:A	donor_loss	0.9800
1:179877692:CAAA:C	donor_gain	0.9800
1:179877692:CAAAT:C	donor_gain	0.9800
1:179882947:A:T	donor_gain	0.9800
1:179876207:A:C	acceptor_gain	0.9700
1:179877684:TTTAC:T	donor_loss	0.9600
1:179877685:TTAC:T	donor_loss	0.9600
1:179877686:TAC:T	donor_loss	0.9600
1:179865570:CT:C	donor_gain	0.9500
1:179876206:CA:C	acceptor_gain	0.9500
1:179882794:G:GT	donor_gain	0.9500
1:179864981:A:T	acceptor_gain	0.9400
1:179882974:GAAG:G	donor_gain	0.9400
1:179864980:C:CT	acceptor_gain	0.9300
1:179865569:A:AC	donor_gain	0.9300
1:179865570:C:CC	donor_gain	0.9300
1:179865570:CTCTG:C	donor_gain	0.9200
1:179876205:CCA:C	acceptor_gain	0.9200
1:179882489:C:G	donor_gain	0.9100
1:179882990:G:GT	donor_gain	0.9100

AlphaMissense

3113 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:179846145:A:G	W447R	0.998
1:179846145:A:T	W447R	0.998
1:179846114:A:T	V457D	0.997
1:179846143:C:A	W447C	0.997
1:179846143:C:G	W447C	0.997
1:179846317:A:C	F389L	0.997
1:179846317:A:T	F389L	0.997
1:179846319:A:G	F389L	0.997
1:179846336:T:A	D383V	0.997
1:179846338:A:C	C382W	0.997
1:179846339:C:T	C382Y	0.997
1:179846399:G:T	A362D	0.997
1:179846147:A:G	L446P	0.996
1:179846324:G:T	A387D	0.996
1:179846342:T:C	Y381C	0.996
1:179846343:A:G	Y381H	0.996
1:179846432:A:G	L351P	0.996
1:179846120:A:G	L455P	0.995
1:179846138:C:G	R449P	0.995
1:179846140:G:C	S448R	0.995
1:179846140:G:T	S448R	0.995
1:179846142:T:G	S448R	0.995
1:179846150:C:T	G445E	0.995
1:179846291:A:T	V398D	0.995
1:179846336:T:G	D383A	0.995
1:179846351:A:G	F378S	0.995
1:179846400:C:G	A362P	0.995
1:179846452:C:A	K344N	0.995
1:179846452:C:G	K344N	0.995
1:179846548:G:C	S312R	0.995

dbSNP variants (sampled 300 via entrez): RS1000055442 (1:179861835 C>T), RS1000060533 (1:179874355 A>C,G), RS1000338573 (1:179859949 A>C), RS1000363898 (1:179840579 T>G), RS1000376794 (1:179878481 C>T), RS1000410552 (1:179873947 T>C), RS1000416229 (1:179841098 C>T), RS1000429316 (1:179878820 G>A,C,T), RS1000447236 (1:179863676 G>A,C), RS1000470989 (1:179878941 G>C), RS1000979023 (1:179866700 C>T), RS1000995572 (1:179873866 T>C), RS1001044183 (1:179853312 T>C), RS1001050730 (1:179867000 G>C), RS1001171139 (1:179839549 C>T)

Disease associations

OMIM: gene MIM:614513 | disease phenotypes: MIM:617072

GenCC curated gene-disease

Mondo (1): autosomal recessive limb-girdle muscular dystrophy type 2Y (MONDO:0014900)

Orphanet (1): TOR1AIP1-related limb-girdle muscular dystrophy (Orphanet:424261)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_371	Refractive error	3.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects expression, increases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Valproic Acid	decreases methylation, increases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
FR900359	decreases phosphorylation	1
urushiol	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	increases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acrolein	increases abundance, affects cotreatment, decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression, affects cotreatment	1
Estradiol	increases expression	1
Hydrogen Peroxide	increases expression	1
Nickel	decreases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05989620	Not specified	RECRUITING	Long-Term Development of Muscular Dystrophy Outcome Assessments