MCTP1

Summary

MCTP1 (multiple C2 and transmembrane domain containing 1, HGNC:26183) is a protein-coding gene on chromosome 5q15, encoding Multiple C2 and transmembrane domain-containing protein 1 (Q6DN14). Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.

Enables calcium ion binding activity. Predicted to be involved in several processes, including modulation of chemical synaptic transmission; negative regulation of endocytosis; and negative regulation of response to oxidative stress. Located in membrane.

Source: NCBI Gene 79772 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 130 total
• MANE Select transcript: NM_024717

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26183
Approved symbol	MCTP1
Name	multiple C2 and transmembrane domain containing 1
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22344
Ensembl gene	ENSG00000175471
Ensembl biotype	protein_coding
OMIM	616296
Entrez	79772

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000312216, ENST00000429576, ENST00000503301, ENST00000505078, ENST00000505208, ENST00000505465, ENST00000506568, ENST00000507214, ENST00000508509, ENST00000509850, ENST00000510732, ENST00000512425, ENST00000512568, ENST00000513695, ENST00000513857, ENST00000514040, ENST00000514780, ENST00000515393

RefSeq mRNA: 19 — MANE Select: NM_024717 NM_001002796, NM_001297777, NM_001393535, NM_001393536, NM_001393537, NM_001393538, NM_001393539, NM_001393540, NM_001393541, NM_001393542, NM_001393543, NM_001393544, NM_001393545, NM_001393546, NM_001393547, NM_001393548, NM_001393549, NM_001393550, NM_024717

CCDS: CCDS34203, CCDS47247, CCDS75275, CCDS93747

Canonical transcript exons

ENST00000515393 — 23 exons

Exon	Start	End
ENSE00001207194	94870417	94870491
ENSE00001207202	94909251	94909381
ENSE00001207222	94940084	94940195
ENSE00001207244	94799013	94799132
ENSE00001207255	94870872	94870973
ENSE00001207261	94871315	94871417
ENSE00001207267	94873139	94873241
ENSE00001207272	94888879	94888972
ENSE00001207278	94894649	94894835
ENSE00001207285	94917896	94917973
ENSE00001207290	94923962	94924021
ENSE00001207293	94931953	94931991
ENSE00001359590	94868333	94868452
ENSE00001483505	95283856	95285094
ENSE00002085072	94703690	94707567
ENSE00003467945	94912806	94912976
ENSE00003484689	94942348	94942427
ENSE00003503962	94953219	94953361
ENSE00003516249	95017367	95017484
ENSE00003575798	94714777	94714886
ENSE00003588182	94779110	94779163
ENSE00003638173	94708512	94708609
ENSE00003682903	94710818	94710927

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 96.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.4497 / max 1381.8605, expressed in 1198 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62636	31.1565	1137
62635	2.0500	576
62633	0.3825	204
62634	0.3157	171
62643	0.1325	66
62642	0.1273	55
62637	0.1103	53
62638	0.0833	33
62641	0.0587	24
62639	0.0330	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.34	gold quality
monocyte	CL:0000576	95.52	gold quality
mononuclear cell	CL:0000842	95.39	gold quality
calcaneal tendon	UBERON:0003701	94.84	gold quality
leukocyte	CL:0000738	94.62	gold quality
oocyte	CL:0000023	93.44	gold quality
endothelial cell	CL:0000115	93.44	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.99	gold quality
cortical plate	UBERON:0005343	91.92	gold quality
sural nerve	UBERON:0015488	91.85	gold quality
gall bladder	UBERON:0002110	89.35	gold quality
cerebellar cortex	UBERON:0002129	88.67	gold quality
cerebellar hemisphere	UBERON:0002245	88.57	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.56	gold quality
cerebellum	UBERON:0002037	88.23	gold quality
caudate nucleus	UBERON:0001873	88.17	gold quality
superior frontal gyrus	UBERON:0002661	87.99	gold quality
prefrontal cortex	UBERON:0000451	87.84	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.75	gold quality
omental fat pad	UBERON:0010414	87.51	gold quality
CA1 field of hippocampus	UBERON:0003881	87.47	gold quality
peritoneum	UBERON:0002358	87.45	gold quality
nucleus accumbens	UBERON:0001882	87.23	gold quality
blood	UBERON:0000178	87.19	gold quality
entorhinal cortex	UBERON:0002728	87.18	gold quality
middle temporal gyrus	UBERON:0002771	86.91	gold quality
putamen	UBERON:0001874	86.82	gold quality
orbitofrontal cortex	UBERON:0004167	86.67	gold quality
colonic epithelium	UBERON:0000397	86.50	gold quality
adipose tissue of abdominal region	UBERON:0007808	86.48	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	1306.04
E-MTAB-8142	yes	932.96
E-HCAD-25	yes	803.89
E-CURD-112	yes	5.05
E-GEOD-86618	no	552.69
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting MCTP1, 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-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 6)

• MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules (PMID:15528213)
• MCTP1 was observed on synaptic vesicles in neuronal cell bodies and pre-synaptic axon terminals. (PMID:26195140)
• This Gene-based tests suggest evidence of association with related genes, ZEB2, RND3, MCTP1, CTBP2, and beta EEG. (PMID:28040410)
• The DNA methylation-regulated MCTP1 activates the drug-resistance of esophageal cancer cells. (PMID:33571139)
• Multiple C2 domain-containing transmembrane proteins promote lipid droplet biogenesis and growth at specialized endoplasmic reticulum subdomains. (PMID:33826368)
• MCTP1 increases the malignancy of androgen-deprived prostate cancer cells by inducing neuroendocrine differentiation and EMT. (PMID:38861615)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mctp1b	ENSDARG00000060871
danio_rerio	mctp1a	ENSDARG00000076404
mus_musculus	Mctp1	ENSMUSG00000021596
rattus_norvegicus	Mctp1	ENSRNOG00000013282
drosophila_melanogaster	Mctp	FBGN0034389
caenorhabditis_elegans	mctp-1	WBGENE00017063

Paralogs (1): MCTP2 (ENSG00000140563)

Protein

Protein identifiers

Multiple C2 and transmembrane domain-containing protein 1 — Q6DN14 (reviewed: Q6DN14)

All UniProt accessions (9): D6R8Z9, D6RA42, D6RC97, E5RJR1, Q6DN14, H0Y8M9, H0Y9S8, H0Y9Y6, H0YA70

UniProt curated annotations — full annotation on UniProt →

Function. Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Recycling endosome. Endoplasmic reticulum membrane.

Cofactor. Binds Ca(2+) via the C2 domains in absence of phospholipids.

Similarity. Belongs to the MCTP family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6DN14-1	1, MCTP1L	yes
Q6DN14-2	2, MCTP1S
Q6DN14-3	3
Q6DN14-4	4
Q6DN14-5	5

RefSeq proteins (19): NP_001002796, NP_001284706, NP_001380464, NP_001380465, NP_001380466, NP_001380467, NP_001380468, NP_001380469, NP_001380470, NP_001380471, NP_001380472, NP_001380473, NP_001380474, NP_001380475, NP_001380476, NP_001380477, NP_001380478, NP_001380479, NP_078993* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR013583	MCTP_C	Domain
IPR035892	C2_domain_sf	Homologous_superfamily

Pfam: PF00168, PF08372

UniProt features (51 total): binding site 24, compositionally biased region 8, splice variant 7, sequence conflict 4, domain 3, transmembrane region 2, chain 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6DN14-F1	65.61	0.15

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 (24): 277; 277; 283; 330; 330; 332; 332; 338; 486; 486; 492; 539 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 250 (showing top): GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, ZHAN_MULTIPLE_MYELOMA_MF_UP, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, AP1_Q4_01, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, OCT1_03, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (6): calcium-mediated signaling (GO:0019722), negative regulation of cell migration (GO:0030336), negative regulation of endocytosis (GO:0045806), regulation of neurotransmitter secretion (GO:0046928), regulation of neuronal synaptic plasticity (GO:0048168), negative regulation of response to oxidative stress (GO:1902883)

GO Molecular Function (2): calcium ion binding (GO:0005509), metal ion binding (GO:0046872)

GO Cellular Component (8): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), recycling endosome (GO:0055037), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	2
cytoplasm	2
intracellular signaling cassette	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
endocytosis	1
regulation of endocytosis	1
negative regulation of transport	1
negative regulation of cellular component organization	1
neurotransmitter secretion	1
modulation of chemical synaptic transmission	1
regulation of neurotransmitter transport	1
regulation of secretion by cell	1
regulation of synaptic plasticity	1
response to oxidative stress	1
negative regulation of response to stimulus	1
regulation of response to oxidative stress	1
metal ion binding	1
cation binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
synaptic vesicle	1
exocytic vesicle membrane	1
endosome	1
cytoplasmic vesicle	1
intracellular membrane-bounded organelle	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

724 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MCTP1	EFCAB11	Q9BUY7	618
MCTP1	IQCK	Q8N0W5	562
MCTP1	ARB2A	Q8WUF8	551
MCTP1	PRR32	B1ATL7	526
MCTP1	SLF1	Q9BQI6	524
MCTP1	PRSS45P	Q7RTY3	504
MCTP1	CFAP45	Q9UL16	499
MCTP1	DCAF12L2	Q5VW00	470
MCTP1	MAP4K3	Q8IVH8	456
MCTP1	PYROXD1	Q8WU10	447
MCTP1	ADGRE1	Q14246	438
MCTP1	DTNA	Q9Y4J8	438
MCTP1	BLTP2	Q14667	419
MCTP1	TMEM44	Q2T9K0	416
MCTP1	LMBR1	Q8WVP7	414
MCTP1	POU5F2	Q8N7G0	414

IntAct

5 interactions, top by confidence:

A	B	Type	Score
MCTP1	MATR3	psi-mi:“MI:0915”(physical association)	0.400
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): MCTP1 (Proximity Label-MS), MCTP1 (Affinity Capture-MS), MCTP1 (Affinity Capture-MS), MCTP1 (Affinity Capture-MS), MCTP1 (Proximity Label-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, D3Z7P3, E9PV86, G3MWR8, O54865, O60907, O89050, O94925, P13264, P16068, P20595, P58058, Q02153, Q08211, Q12800, Q13042, Q14722, Q28141, Q28D01, Q3MHJ2, Q3ULA2, Q4R8H1, Q4ZHR9, Q5R874, Q5RB35, Q5SP67, Q5SRY7, Q5ZHN3, Q6DN14, Q7RTP6, Q7T2U9, Q7Z6J6, Q8BTG7, Q8C6G8, Q8CJ19, Q8K4Q0, Q8N122, Q8N2K0, Q8R349

Diamond homologs: A0A075F932, A0FGR8, A4IJ05, K8FE10, O00445, O00750, O08625, O08835, O35681, O43581, P04409, P05128, P05129, P05130, P05696, P10102, P10829, P13677, P17252, P20444, P21521, P21579, P21707, P24505, P24506, P24507, P29101, P34693, P40748, P40749, P41823, P41885, P46096, P46097, P47191, P47708, P47709, P47861, P48018, P50232

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

6938 predictions. Top by Δscore:

Variant	Effect	Δscore
5:94714775:A:AC	donor_gain	1.0000
5:94714776:C:CC	donor_gain	1.0000
5:94779105:ATTAC:A	donor_loss	1.0000
5:94779106:TTACC:T	donor_loss	1.0000
5:94779107:TA:T	donor_loss	1.0000
5:94779108:A:AC	donor_gain	1.0000
5:94779108:ACC:A	donor_loss	1.0000
5:94779109:C:CC	donor_gain	1.0000
5:94799011:A:AC	donor_gain	1.0000
5:94799012:C:CC	donor_gain	1.0000
5:94870870:A:AC	donor_gain	1.0000
5:94870870:ACAG:A	donor_gain	1.0000
5:94870871:C:CC	donor_gain	1.0000
5:94870871:CAG:C	donor_gain	1.0000
5:94870871:CAGC:C	donor_gain	1.0000
5:94870909:C:CA	donor_gain	1.0000
5:94871313:A:AC	donor_gain	1.0000
5:94871314:C:CG	donor_gain	1.0000
5:94871314:CAG:C	donor_gain	1.0000
5:94871314:CAGA:C	donor_gain	1.0000
5:94871413:TGTTG:T	acceptor_gain	1.0000
5:94871429:A:C	acceptor_gain	1.0000
5:94871431:A:C	acceptor_gain	1.0000
5:94871433:A:AC	acceptor_gain	1.0000
5:94871433:A:C	acceptor_gain	1.0000
5:94873042:A:T	acceptor_gain	1.0000
5:94873133:A:AC	donor_gain	1.0000
5:94873134:C:CC	donor_gain	1.0000
5:94873137:A:AC	donor_gain	1.0000
5:94873138:C:CC	donor_gain	1.0000

AlphaMissense

6519 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:94708596:A:C	F948L	1.000
5:94708596:A:T	F948L	1.000
5:94708597:A:G	F948S	1.000
5:94708598:A:G	F948L	1.000
5:94870910:C:G	G735R	1.000
5:94870910:C:T	G735R	1.000
5:94870942:A:G	L724S	1.000
5:94871340:C:T	G705D	1.000
5:94871341:C:G	G705R	1.000
5:94871367:T:A	D696V	1.000
5:94871367:T:G	D696A	1.000
5:94871368:C:G	D696H	1.000
5:94871379:A:T	V692D	1.000
5:94873156:C:A	W673C	1.000
5:94873156:C:G	W673C	1.000
5:94873157:C:G	W673S	1.000
5:94873158:A:G	W673R	1.000
5:94873158:A:T	W673R	1.000
5:94873163:G:T	P671H	1.000
5:94873175:T:A	K667I	1.000
5:94873222:A:C	C651W	1.000
5:94873224:A:G	C651R	1.000
5:94873225:A:C	F650L	1.000
5:94873225:A:T	F650L	1.000
5:94873227:A:G	F650L	1.000
5:94873229:G:T	P649Q	1.000
5:94873232:T:C	D648G	1.000
5:94873234:A:C	S647R	1.000
5:94873234:A:T	S647R	1.000
5:94873236:T:G	S647R	1.000

dbSNP variants (sampled 300 via entrez): RS1000000677 (5:95273784 G>A), RS1000002912 (5:95022691 G>A), RS1000003346 (5:94961381 G>A), RS1000004930 (5:95230185 T>A,C), RS1000012018 (5:94773796 G>A), RS1000012427 (5:94910381 T>A), RS1000021896 (5:95004635 G>A), RS1000031219 (5:94818272 C>G,T), RS1000031340 (5:95093535 C>T), RS1000034118 (5:94755909 T>C,G), RS1000041958 (5:94864036 G>GA), RS1000055165 (5:94765711 A>G), RS1000056 (5:94987278 T>C), RS1000056776 (5:94917878 C>T), RS1000059967 (5:95185154 G>A)

Disease associations

OMIM: gene MIM:616296 | 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

16 associations (top):

Study	Trait	p-value
GCST000387_9	Bipolar disorder	1.000000e-07
GCST001961_7	Anorexia nervosa	3.000000e-06
GCST003262_504	Post bronchodilator FEV1	4.000000e-07
GCST003264_1032	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST004649_5	Isovolumetric relaxation time	9.000000e-06
GCST007327_196	Smoking status (ever vs never smokers)	3.000000e-11
GCST008103_177	Bipolar disorder	8.000000e-06
GCST008810_81	Smoking initiation (ever regular vs never regular)	8.000000e-09
GCST008829_7	Neuritic plaque	3.000000e-06
GCST009597_62	Multiple sclerosis	4.000000e-06
GCST010600_6	Dietary fat liking	4.000000e-06
GCST010701_40	Cortical surface area (MOSTest)	9.000000e-23
GCST010702_25	Subcortical volume (MOSTest)	4.000000e-39
GCST010703_194	Brain morphology (MOSTest)	9.000000e-11
GCST011703_70	Smoking initiation	6.000000e-10
GCST90093325_9	Language functional connectivity	7.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0008204	left ventricular diastolic function measurement
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation
EFO:0006798	neuritic plaque measurement
EFO:0010816	dietary fat liking measurement
EFO:0004346	neuroimaging measurement
EFO:0007797	language 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Air Pollutants	increases expression, affects expression, increases abundance, decreases expression	4
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	4
trichostatin A	decreases expression, increases expression	2
sulforaphane	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Tretinoin	affects cotreatment, decreases expression, increases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
Asbestos, Crocidolite	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
sotorasib	decreases expression, affects cotreatment	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
bisphenol A	affects cotreatment, decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
3,4-dichloroaniline	increases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases 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