CIAO1

Summary

CIAO1 (cytosolic iron-sulfur assembly component 1, HGNC:14280) is a protein-coding gene on chromosome 2q11.2, encoding Probable cytosolic iron-sulfur protein assembly protein CIAO1 (O76071). Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. It is a common-essential gene (DepMap: required in 97.5% of cancer cell lines).

Involved in protein maturation. Located in cytoplasm. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex.

Source: NCBI Gene 9391 — RefSeq curated summary.

At a glance

• Gene–disease (curated): multiple mitochondrial dysfunctions syndrome 10 (Limited, GenCC)
• Clinical variants (ClinVar): 62 total — 4 pathogenic, 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 97.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_004804

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14280
Approved symbol	CIAO1
Name	cytosolic iron-sulfur assembly component 1
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	CIA1
Ensembl gene	ENSG00000144021
Ensembl biotype	protein_coding
OMIM	604333
Entrez	9391

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000272402, ENST00000469320, ENST00000488633, ENST00000491394, ENST00000883965, ENST00000883966, ENST00000883967, ENST00000948580, ENST00000948581

RefSeq mRNA: 1 — MANE Select: NM_004804 NM_004804

CCDS: CCDS2019

Canonical transcript exons

ENST00000488633 — 7 exons

Exon	Start	End
ENSE00001162600	96269268	96269355
ENSE00001162607	96268457	96268658
ENSE00001897782	96271111	96274173
ENSE00001931191	96266225	96266489
ENSE00003654212	96267836	96267924
ENSE00003668391	96267321	96267469
ENSE00003690573	96267625	96267736

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 93.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.6236 / max 210.8419, expressed in 1824 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21452	32.4835	1823
21453	4.1400	1610

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	93.46	gold quality
left adrenal gland cortex	UBERON:0035825	93.42	gold quality
left adrenal gland	UBERON:0001234	93.39	gold quality
adrenal cortex	UBERON:0001235	93.15	gold quality
right adrenal gland	UBERON:0001233	93.09	gold quality
adrenal gland	UBERON:0002369	92.92	gold quality
granulocyte	CL:0000094	92.54	gold quality
adrenal tissue	UBERON:0018303	91.97	gold quality
ganglionic eminence	UBERON:0004023	91.96	gold quality
cerebellar hemisphere	UBERON:0002245	91.85	gold quality
cerebellar cortex	UBERON:0002129	91.79	gold quality
ventricular zone	UBERON:0003053	91.65	gold quality
body of pancreas	UBERON:0001150	91.61	gold quality
right frontal lobe	UBERON:0002810	91.56	gold quality
putamen	UBERON:0001874	91.55	gold quality
cortical plate	UBERON:0005343	91.53	gold quality
nucleus accumbens	UBERON:0001882	91.49	gold quality
monocyte	CL:0000576	91.39	gold quality
metanephros cortex	UBERON:0010533	91.38	gold quality
lateral globus pallidus	UBERON:0002476	91.31	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.31	gold quality
caudate nucleus	UBERON:0001873	91.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.13	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.12	gold quality
leukocyte	CL:0000738	91.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.99	gold quality
mononuclear cell	CL:0000842	90.96	gold quality
right lobe of liver	UBERON:0001114	90.95	gold quality
rectum	UBERON:0001052	90.94	gold quality
substantia nigra pars compacta	UBERON:0001965	90.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	402.85
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): WT1

miRNA regulators (miRDB)

87 targeting CIAO1, 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-340-5P	100.00	72.50	4437
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-205-5P	99.81	70.05	1557

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• CIA2B-CIA1-MMS19 and CIA2A-CIA1 assist different branches of Fe/S protein assembly and intimately link this process to cellular iron regulation via IRP1 Fe/S cluster maturation and IRP2 stabilization. (PMID:23891004)
• These data suggest that viperin requires CIAO1 for [4Fe-4S] cluster assembly, and acts through an enzymatic, Fe-S cluster- and SAM-dependent mechanism to inhibit viral RNA synthesis. (PMID:24245804)
• POLE1 is phosphorylated at serine-1940 after DNA damage and interacts with the iron-sulfur complex chaperones CIAO1 and MMS19. (PMID:27235625)
• Data suggest that CIA2B and MMS19 physically interact with C-terminus of viperin/RSAD2; CIAO1 appears to function as primary viperin-interacting protein; CIA2A binds to N-terminus of viperin in CIAO1-, CIA2B-, and MMS19-independent fashion. (CIA2B = metallochaperone CIA2B/FAM96B; MMS19 = transcription factor MMS19; CIAO1 = cytosolic iron-sulfur assembly component 1; CIA2A = metallochaperone CIA2A/Fam96a) (PMID:28615450)
• CIAO1 role in the iron-sulfur cluster biogenesis.The LYR motif of CIAO1 is required for the interaction with HSC20. (PMID:29309586)
• Structural insights into Fe-S protein biogenesis by the CIA targeting complex. (PMID:32632277)
• A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-beta Protein Precursor. (PMID:34569959)
• CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders. (PMID:38411040)
• CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. (PMID:38950322)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ciao1	ENSDARG00000059212
mus_musculus	Ciao1	ENSMUSG00000003662
rattus_norvegicus	Ciao1	ENSRNOG00000012638
drosophila_melanogaster	Ciao1	FBGN0033972
caenorhabditis_elegans	ciao-1	WBGENE00012479

Protein

Protein identifiers

Probable cytosolic iron-sulfur protein assembly protein CIAO1 — O76071 (reviewed: O76071)

Alternative names: WD repeat-containing protein 39

All UniProt accessions (1): O76071

UniProt curated annotations — full annotation on UniProt →

Function. Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation.

Subunit / interactions. Component of the CIA complex. Interacts with CIAO2A and forms a complex with CIAO2B and MMS19; the interactions with CIAO2A and CIAO2B are mutually exclusive. Interacts with CHD1L, ERCC2, IREB2 and POLD1. Component of the MMXD complex, which includes CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5. Interacts with WT1. Interacts with CIAO3. Interacts (via LYR motif) with HSC20.

Subcellular location. Cytoplasm.

Disease relevance. Multiple mitochondrial dysfunctions syndrome 10 (MMDS10) [MIM:620960] An autosomal recessive disorder characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. Additional features include learning difficulties and neurobehavioral comorbidities. Some affected individuals have mild normocytic to macrocytic anemia. Brain imaging shows increased iron deposition in deep brain nuclei in some patients. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. ‘Ciao’ means ‘bridge’ in Chinese.

Similarity. Belongs to the WD repeat CIA1 family.

RefSeq proteins (1): NP_004795* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR028608	CIAO1/Cia1	Family
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400

UniProt features (48 total): strand 31, repeat 7, sequence variant 4, mutagenesis site 2, chain 1, sequence conflict 1, turn 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3FM0	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76071-F1	96.72	0.96

Functional residue map

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

Mutagenesis-validated functional residues (2):

Position	Phenotype
87–89	does not affect binding to hsc20.
176–178	abolishes binding to hsc20.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2564830	Cytosolic iron-sulfur cluster assembly

MSigDB gene sets: 193 (showing top): MODULE_52, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_HDAC1, GGGTGGRR_PAX4_03, CCANNAGRKGGC_UNKNOWN, GOBP_PROTEIN_MATURATION, ONKEN_UVEAL_MELANOMA_UP, OCT1_06, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, ELK1_01, MODULE_98, MODULE_18, DANG_BOUND_BY_MYC, MEF2_Q6_01, MODULE_38

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), chromosome segregation (GO:0007059), iron-sulfur cluster assembly (GO:0016226), protein maturation (GO:0051604)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), MMXD complex (GO:0071817), cytosolic [4Fe-4S] assembly targeting complex (GO:0097361)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cell cycle process	1
metallo-sulfur cluster assembly	1
gene expression	1
protein metabolic process	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
spindle	1
protein-containing complex	1
intracellular protein-containing complex	1
iron-sulfur cluster assembly complex	1

Protein interactions and networks

STRING

1780 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIAO1	CIAO2B	Q9Y3D0	998
CIAO1	MMS19	Q96T76	997
CIAO1	CIAO3	Q9H6Q4	971
CIAO1	CIAO2A	Q9H5X1	960
CIAO1	NUBP1	P53384	939
CIAO1	SLC25A5	P05141	936
CIAO1	SLC25A6	P12236	934
CIAO1	CIAPIN1	Q6FI81	793
CIAO1	PAWR	Q96IZ0	769
CIAO1	WT1	P19544	752
CIAO1	NUBP2	Q9Y5Y2	721
CIAO1	GLRX5	Q86SX6	694
CIAO1	NFS1	Q9Y697	675
CIAO1	NDOR1	Q9UHB4	672
CIAO1	ABCB7	O75027	623
CIAO1	ERCC2	P18074	623

IntAct

232 interactions, top by confidence:

A	B	Type	Score
CIAO1	CIAO2A	psi-mi:“MI:0915”(physical association)	0.950
CIAO2B	CIAO1	psi-mi:“MI:0915”(physical association)	0.950
CIAO1	CIAO2B	psi-mi:“MI:0915”(physical association)	0.950
CIAO2A	CIAO1	psi-mi:“MI:0915”(physical association)	0.950
CIAO2B	CIAO1	psi-mi:“MI:0914”(association)	0.950
CIAO1	CIAO2A	psi-mi:“MI:0407”(direct interaction)	0.950
CIAO2B	CIAO1	psi-mi:“MI:0407”(direct interaction)	0.950
CIAO2A	CIAO1	psi-mi:“MI:0914”(association)	0.950
SPC24	NDC80	psi-mi:“MI:0914”(association)	0.920
MMS19	CIAO1	psi-mi:“MI:0914”(association)	0.910
MMS19	CIAO1	psi-mi:“MI:0915”(physical association)	0.910

BioGRID (735): CIAO1 (Two-hybrid), CIAO1 (Two-hybrid), FAM96B (Two-hybrid), MMS19 (Two-hybrid), FAM96A (Two-hybrid), CIAO1 (Affinity Capture-MS), CIAO1 (Affinity Capture-Western), NARFL (Affinity Capture-Western), FAM96B (Affinity Capture-Western), MMS19 (Affinity Capture-Western), CIAO1 (Affinity Capture-MS), CIAO1 (Affinity Capture-MS), CIAO1 (Affinity Capture-MS), CIAO1 (Affinity Capture-MS), CIAO1 (Affinity Capture-MS)

ESM2 similar proteins: A3LVM1, A5DHD9, A6ZYM0, A7RWD2, A7TLU2, B0XAF3, B3MC74, B3NQR5, B3RNR8, B4GDM7, B4HRQ6, B4JW81, B4KTK4, B4LJT7, B4MY77, B4P7Q3, B4QFZ8, B5X212, B5X9P2, B7QKS1, O64740, O76071, O80990, O94319, P53024, P55735, Q04491, Q05583, Q17GR9, Q1DZQ0, Q28DW0, Q292E8, Q32PJ6, Q3ZCC9, Q55DA2, Q5AEF2, Q5DFU0, Q5M7T1, Q5XFW8, Q6BIR1

Diamond homologs: A1CGS0, A2QHM1, A2QP30, A3LNW3, A3LVM1, A4R3M4, A4REK3, A5DHD9, A5DXE2, A6RT32, A7EZJ5, A8WVD2, A8XJ40, B0XAF3, B2AEZ5, B2B766, B6K1G6, B8N9H4, B9WD30, C0NRC6, C4R6H3, C4YPI7, C5MJE8, C6HTE8, C7Z6H2, G0SA60, O45933, O48847, O64740, O76071, O80990, O94319, P0CS50, P0CS51, P53011, P53024, P55735, Q04491, Q0CHM0, Q0UNA9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CIAO1	“form complex”	“CIAO2B cytosolic iron-sulfur protein assembly complex”	binding
CIAO1	“form complex”	“CIAO1-CIAO2A-CIAO3 cytosolic iron-sulfur protein assembly complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 129 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
Cytosolic iron-sulfur cluster assembly	6	53.7×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
chromosome segregation	7	10.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	44
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
3063543	GRCh37/hg19 2q11.2(chr2:96917560-96934823)x1	Pathogenic
3341098	NM_004804.3(CIAO1):c.512A>G (p.Asp171Gly)	Pathogenic
3341099	NM_004804.3(CIAO1):c.752A>T (p.His251Leu)	Pathogenic
3341100	NM_004804.3:c.905A>C transversion, resulting in a his302-to-pro (H302P; 604333.0002)	Pathogenic
3341096	NM_004804.3(CIAO1):c.905A>C (p.His302Pro)	Likely pathogenic

SpliceAI

971 predictions. Top by Δscore:

Variant	Effect	Δscore
2:96266485:GGAGG:G	donor_gain	1.0000
2:96266486:GAGGG:G	donor_gain	1.0000
2:96266488:GG:G	donor_gain	1.0000
2:96266489:GG:G	donor_gain	1.0000
2:96267713:A:G	donor_gain	1.0000
2:96267834:A:AG	acceptor_gain	1.0000
2:96267835:G:GG	acceptor_gain	1.0000
2:96267835:GTT:G	acceptor_gain	1.0000
2:96267921:GGAG:G	donor_gain	1.0000
2:96267922:G:GT	donor_gain	1.0000
2:96267922:GAGGT:G	donor_loss	1.0000
2:96267923:AG:A	donor_loss	1.0000
2:96267924:GGTA:G	donor_loss	1.0000
2:96267925:GTAA:G	donor_loss	1.0000
2:96267926:T:G	donor_loss	1.0000
2:96268455:A:AG	acceptor_gain	1.0000
2:96268456:G:A	acceptor_loss	1.0000
2:96268456:G:GG	acceptor_gain	1.0000
2:96266486:GAGG:G	donor_gain	0.9900
2:96266487:AGGGT:A	donor_loss	0.9900
2:96266488:GGGT:G	donor_loss	0.9900
2:96266489:GGTA:G	donor_loss	0.9900
2:96266490:GTAAG:G	donor_loss	0.9900
2:96266491:T:TC	donor_loss	0.9900
2:96267832:ACAG:A	acceptor_loss	0.9900
2:96267833:CA:C	acceptor_loss	0.9900
2:96267834:AGTT:A	acceptor_gain	0.9900
2:96267835:G:GT	acceptor_loss	0.9900
2:96267835:GTTG:G	acceptor_gain	0.9900
2:96267889:G:GT	donor_gain	0.9900

AlphaMissense

2229 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:96267419:A:C	S80R	1.000
2:96267421:C:A	S80R	1.000
2:96267421:C:G	S80R	1.000
2:96267706:A:C	S124R	1.000
2:96267707:G:T	S124I	1.000
2:96267708:C:A	S124R	1.000
2:96267708:C:G	S124R	1.000
2:96267713:A:T	D126V	1.000
2:96267386:T:A	W69R	0.999
2:96267386:T:C	W69R	0.999
2:96267411:C:A	A77D	0.999
2:96267420:G:T	S80I	0.999
2:96267422:T:C	F81L	0.999
2:96267424:T:A	F81L	0.999
2:96267424:T:G	F81L	0.999
2:96267673:T:A	W113R	0.999
2:96267673:T:C	W113R	0.999
2:96267698:C:A	A121D	0.999
2:96267704:G:A	C123Y	0.999
2:96267705:C:G	C123W	0.999
2:96267710:G:C	R125P	0.999
2:96267712:G:C	D126H	0.999
2:96267713:A:C	D126A	0.999
2:96267722:T:A	V129D	0.999
2:96267730:T:A	W132R	0.999
2:96267730:T:C	W132R	0.999
2:96267732:G:C	W132C	0.999
2:96267732:G:T	W132C	0.999
2:96267890:A:T	D152V	0.999
2:96267893:T:A	V153D	0.999

dbSNP variants (sampled 300 via entrez): RS1000000788 (2:96270922 G>T), RS1000347573 (2:96268096 A>C,G), RS1000490338 (2:96274244 C>T), RS1001164235 (2:96266327 C>G,T), RS1001336155 (2:96265810 G>A,T), RS1001682690 (2:96273504 T>C), RS1001985334 (2:96273328 G>C), RS1002188770 (2:96272586 G>A,C,T), RS1002325843 (2:96266520 G>C,T), RS1002337090 (2:96266824 C>T), RS1003199437 (2:96266208 G>A), RS1003286141 (2:96274025 A>G), RS1003332443 (2:96267995 T>C), RS1003350274 (2:96268246 G>C), RS1003597404 (2:96273799 A>C,T)

Disease associations

OMIM: gene MIM:604333 | disease phenotypes: MIM:620960

GenCC curated gene-disease

Disease	Classification	Inheritance
multiple mitochondrial dysfunctions syndrome 10	Limited	Autosomal recessive

Mondo (2): neuromuscular disease (MONDO:0019056), multiple mitochondrial dysfunctions syndrome 10 (MONDO:0975806)

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

HPO phenotypes

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

GWAS associations

0 associations (top):

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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	3
Tretinoin	decreases expression	2
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
nutlin 3	affects cotreatment, increases secretion	1
Arsenic Trioxide	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Fluorouracil	affects response to substance	1
Ivermectin	decreases expression	1
Rotenone	decreases expression	1
Thiram	decreases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D6Z6	GM28952	Transformed cell line	Male

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