GATC

Summary

GATC (glutamyl-tRNA amidotransferase subunit C, HGNC:25068) is a protein-coding gene on chromosome 12q24.31, encoding Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial (O43716). Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. It is a selective cancer dependency (DepMap: 18.4% of cell lines).

Predicted to enable ATP binding activity and glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 42.

Source: NCBI Gene 283459 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation deficiency 42 (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 38 total
• Phenotypes (HPO): 17
• Cancer dependency (DepMap): dependent in 18.4% of screened cell lines
• MANE Select transcript: NM_176818

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25068
Approved symbol	GATC
Name	glutamyl-tRNA amidotransferase subunit C
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ37000, 15E1.2
Ensembl gene	ENSG00000257218
Ensembl biotype	protein_coding
OMIM	617210
Entrez	283459

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000229384, ENST00000548171, ENST00000551765, ENST00000920762

RefSeq mRNA: 1 — MANE Select: NM_176818 NM_176818

CCDS: CCDS31911

Canonical transcript exons

ENST00000551765 — 4 exons

Exon	Start	End
ENSE00000756202	120446444	120446561
ENSE00002345147	120459907	120463749
ENSE00003635922	120446657	120446829
ENSE00003643574	120457076	120457179

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 91.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7235 / max 114.8289, expressed in 1799 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128345	13.7235	1799

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	91.23	gold quality
medial globus pallidus	UBERON:0002477	89.73	gold quality
globus pallidus	UBERON:0001875	89.07	gold quality
renal medulla	UBERON:0000362	88.52	gold quality
substantia nigra pars reticulata	UBERON:0001966	87.72	gold quality
middle temporal gyrus	UBERON:0002771	87.44	gold quality
inferior vagus X ganglion	UBERON:0005363	87.32	gold quality
substantia nigra pars compacta	UBERON:0001965	87.19	gold quality
lateral nuclear group of thalamus	UBERON:0002736	86.99	gold quality
endothelial cell	CL:0000115	86.69	silver quality
adrenal tissue	UBERON:0018303	86.67	gold quality
tendon	UBERON:0000043	86.63	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.56	gold quality
body of pancreas	UBERON:0001150	86.41	gold quality
ganglionic eminence	UBERON:0004023	86.10	gold quality
pons	UBERON:0000988	85.85	gold quality
pancreas	UBERON:0001264	85.49	gold quality
ventricular zone	UBERON:0003053	85.49	gold quality
cortical plate	UBERON:0005343	85.47	gold quality
mucosa of sigmoid colon	UBERON:0004993	85.42	gold quality
monocyte	CL:0000576	85.29	gold quality
cerebellar vermis	UBERON:0004720	85.25	gold quality
subthalamic nucleus	UBERON:0001906	85.23	gold quality
mononuclear cell	CL:0000842	85.15	gold quality
colonic mucosa	UBERON:0000317	85.07	gold quality
islet of Langerhans	UBERON:0000006	85.00	gold quality
pericardium	UBERON:0002407	84.98	gold quality
postcentral gyrus	UBERON:0002581	84.95	gold quality
leukocyte	CL:0000738	84.92	gold quality
primary visual cortex	UBERON:0002436	84.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

127 targeting GATC, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4262	100.00	73.26	3931
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-6759-5P	99.99	66.54	785
HSA-MIR-449A	99.99	71.05	1776
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-4775	99.98	75.00	6394
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-659-3P	99.85	70.69	1620

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 18.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB. (PMID:19805282)
• The mitochondrial defective phenotype provoked by the absence of gatA in human cells is confirmed by means of a deficient ability to grow when galactose is used as a carbon source. (PMID:24579914)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gatc	ENSDARG00000056855
mus_musculus	Gatc	ENSMUSG00000029536
rattus_norvegicus	Gatc	ENSRNOG00000045621
drosophila_melanogaster	GatC	FBGN0064115
caenorhabditis_elegans		WBGENE00013433

Protein

Protein identifiers

Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial — O43716 (reviewed: O43716)

Alternative names: Protein 15E1.2

All UniProt accessions (3): F8VRU3, J3KMY1, O43716

UniProt curated annotations — full annotation on UniProt →

Function. Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).

Subunit / interactions. Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.

Subcellular location. Mitochondrion.

Disease relevance. Combined oxidative phosphorylation deficiency 42 (COXPD42) [MIM:618839] An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

Similarity. Belongs to the GatC family.

RefSeq proteins (1): NP_789788* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003837	GatC	Family
IPR036113	Asp/Glu-ADT_sf_sub_c	Homologous_superfamily

Pfam: PF02686

Enzyme classification (BRENDA):

• EC 6.3.5.7 — glutaminyl-tRNA synthase (glutamine-hydrolysing) (BRENDA: 16 organisms, 27 substrates, 24 inhibitors, 26 Km, 23 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GLU-TRNAGLN	0.0004–0.0024	6
GLN	0.01–0.0509	5
ATP	0.117–0.2068	2
L-GLUTAMINE	0.16–1.2	2
L-GLUTAMYL-TRNAGLN	0.19–5.6	2
ASP-TRNAASN	0.0009	1
ASP-TRNAGLN	0.0012	1
L-ASPARTYL-TRNAASN	0.0224	1
L-GLUTAMYL-TRNAGLU	0.0002	1
TRNAGLN1(UUG)	0.0054	1
TRNAGLN2(CUG)	0.0013	1
TRNAGLU	0.0036	1

Catalyzed reactions (Rhea), 1 shown:

• L-glutamyl-tRNA(Gln) + L-glutamine + ATP + H2O = L-glutaminyl-tRNA(Gln) + L-glutamate + ADP + phosphate + H(+) (RHEA:17521)

UniProt features (3 total): sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43716-F1	78.61	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 160 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_AMINO_ACID_ACTIVATION, GOBP_TRNA_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSLATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_TRANSLATION, GOMF_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS, GOBP_REGULATION_OF_TRANSLATIONAL_FIDELITY, chr12q24, GOMF_CARBON_NITROGEN_LIGASE_ACTIVITY_WITH_GLUTAMINE_AS_AMIDO_N_DONOR, GOMF_ADENYL_NUCLEOTIDE_BINDING, DAZARD_RESPONSE_TO_UV_NHEK_UP, PURBEY_TARGETS_OF_CTBP1_AND_SATB1_DN, GOBP_MITOCHONDRIAL_GENE_EXPRESSION

GO Biological Process (4): regulation of translational fidelity (GO:0006450), mitochondrial translation (GO:0032543), glutaminyl-tRNAGln biosynthesis via transamidation (GO:0070681), translation (GO:0006412)

GO Molecular Function (6): ATP binding (GO:0005524), glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity (GO:0050567), nucleotide binding (GO:0000166), protein binding (GO:0005515), ligase activity (GO:0016874), carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)

GO Cellular Component (2): mitochondrion (GO:0005739), glutamyl-tRNA(Gln) amidotransferase complex (GO:0030956)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of biological quality	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
tRNA aminoacylation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
carbon-nitrogen ligase activity, with glutamine as amido-N-donor	1
catalytic activity, acting on a tRNA	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
ligase activity, forming carbon-nitrogen bonds	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular protein-containing complex	1
catalytic complex	1

Protein interactions and networks

STRING

924 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GATC	GATB	O75879	990
GATC	QRSL1	Q9H0R6	982
GATC	AARS1	P49588	626
GATC	EARS2	Q5JPH6	623
GATC	NARS2	Q96I59	608
GATC	NARS1	O43776	596
GATC	QARS1	P47897	595
GATC	EPRS1	P07814	485
GATC	FICD	Q9BVA6	426
GATC	GARS1	P41250	370
GATC	MT-CO2	P00403	354
GATC	DTD1	Q8TEA8	348
GATC	COX5A	P20674	321
GATC	CARS1	P49589	313
GATC	COX7C	P15954	312

IntAct

49 interactions, top by confidence:

A	B	Type	Score
QRSL1	GATC	psi-mi:“MI:0915”(physical association)	0.790
GATC	QRSL1	psi-mi:“MI:0407”(direct interaction)	0.790
GATC	GATB	psi-mi:“MI:0914”(association)	0.640
SRSF11	GATC	psi-mi:“MI:0915”(physical association)	0.560
CYP4V2	GATC	psi-mi:“MI:0914”(association)	0.560
GATC	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560
GATC	ALOX5	psi-mi:“MI:0915”(physical association)	0.560
GATC	SRSF11	psi-mi:“MI:0915”(physical association)	0.560
HGS	GATC	psi-mi:“MI:0915”(physical association)	0.560
GATC	TOMM20L	psi-mi:“MI:0915”(physical association)	0.560
CYP4V2	GATC	psi-mi:“MI:0915”(physical association)	0.560
GATC	NME4	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
	GATC	psi-mi:“MI:0915”(physical association)	0.370
Hnrnpa3	MATR3	psi-mi:“MI:0914”(association)	0.350
KDR	AAR2	psi-mi:“MI:0914”(association)	0.350
Washc1	COX7A2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MRPL42		psi-mi:“MI:0914”(association)	0.350
BBS1	SHTN1	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:2364”(proximity)	0.270
HSPD1	VWA8	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (71): GATC (Two-hybrid), GATC (Affinity Capture-MS), GATC (Affinity Capture-MS), GATC (Affinity Capture-MS), QRSL1 (Affinity Capture-MS), GATB (Affinity Capture-MS), HIBCH (Affinity Capture-MS), GATC (Affinity Capture-MS), GATC (Affinity Capture-MS), PDPR (Affinity Capture-MS), NARS2 (Affinity Capture-MS), D2HGDH (Affinity Capture-MS), PUS1 (Affinity Capture-MS), POLG (Affinity Capture-MS), FDXR (Affinity Capture-MS)

ESM2 similar proteins: A2BHB7, A3KP74, A8PJJ2, B0W041, B0WGN4, B0WV73, B0XHW8, B3MN22, B4GX14, B4HXA6, B4JCX8, B4KEN8, B4M8L8, B4MVR2, B4P3Q9, B4Q572, B5DFW7, B5DK05, B7PZ18, B9INH0, B9RRX2, C3XVM1, C5DHL6, D3ZY68, D7STK2, E1FU46, E2RK33, E3MIE2, E3WSB5, O43716, P53260, P82933, Q16Q94, Q2KIF1, Q3B8B2, Q3ZBC2, Q4R5K7, Q4RSW7, Q58DQ5, Q5R4W7

Diamond homologs: A2BHB7, A4G1L5, A4YWF3, A5EKP6, A5V3V1, A5VUS7, A6U818, A6X564, A8PJJ2, A9KJ25, A9MBN5, A9WYR4, B0UHC7, B0W041, B0WGN4, B0WV73, B0XHW8, B2SB61, B3MN22, B3Q9W8, B4GX14, B4HXA6, B4JCX8, B4KEN8, B4M8L8, B4MVR2, B4P3Q9, B4Q572, B4R967, B5DFW7, B5DK05, B6JFW0, B7PZ18, B8IL52, B9E827, B9JDM9, B9JVJ0, C0RLB6, C3MAA2, C3XVM1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GATC	“form complex”	“Mitochondrial glutamyl-tRNA(Gln) amidotransferase complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

847 predictions. Top by Δscore:

Variant	Effect	Δscore
12:120446557:CTCAG:C	donor_loss	1.0000
12:120446558:TCAG:T	donor_loss	1.0000
12:120446559:CAG:C	donor_loss	1.0000
12:120446560:AG:A	donor_loss	1.0000
12:120446561:GGTAA:G	donor_loss	1.0000
12:120446562:G:GA	donor_loss	1.0000
12:120446563:T:A	donor_loss	1.0000
12:120446653:CCA:C	acceptor_loss	1.0000
12:120446655:A:AG	acceptor_gain	1.0000
12:120446655:AG:A	acceptor_gain	1.0000
12:120446656:G:GC	acceptor_loss	1.0000
12:120446656:G:GG	acceptor_gain	1.0000
12:120446656:GG:G	acceptor_gain	1.0000
12:120446656:GGGCA:G	acceptor_gain	1.0000
12:120446826:ACAG:A	donor_loss	1.0000
12:120446826:ACAGG:A	donor_loss	1.0000
12:120446827:CAG:C	donor_loss	1.0000
12:120446827:CAGGT:C	donor_loss	1.0000
12:120446828:AG:A	donor_loss	1.0000
12:120446828:AGGT:A	donor_loss	1.0000
12:120446829:GG:G	donor_loss	1.0000
12:120446829:GGTAA:G	donor_loss	1.0000
12:120446830:G:C	donor_loss	1.0000
12:120446830:GTAA:G	donor_loss	1.0000
12:120446831:T:A	donor_loss	1.0000
12:120446655:AGG:A	acceptor_gain	0.9900
12:120446655:AGGGC:A	acceptor_loss	0.9900
12:120446656:G:A	acceptor_loss	0.9900
12:120446656:GGG:G	acceptor_gain	0.9900
12:120446656:GGGC:G	acceptor_gain	0.9900

AlphaMissense

869 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:120457164:T:C	F115L	0.974
12:120457166:T:A	F115L	0.974
12:120457166:T:G	F115L	0.974
12:120457161:T:C	Y114H	0.969
12:120446753:G:C	A60P	0.968
12:120446766:C:A	A64D	0.963
12:120457162:A:C	Y114S	0.951
12:120457171:C:A	A117D	0.950
12:120446694:T:C	L40P	0.949
12:120446765:G:C	A64P	0.949
12:120446698:G:C	E41D	0.948
12:120446698:G:T	E41D	0.948
12:120446762:T:C	F63L	0.947
12:120446764:C:A	F63L	0.947
12:120446764:C:G	F63L	0.947
12:120457156:A:T	E112V	0.947
12:120446813:T:C	S80P	0.940
12:120446705:G:C	A44P	0.936
12:120446706:C:A	A44E	0.935
12:120446697:A:T	E41V	0.933
12:120457161:T:G	Y114D	0.929
12:120457165:T:C	F115S	0.928
12:120446775:T:C	L67P	0.920
12:120446745:T:C	L57P	0.919
12:120446717:T:C	F48L	0.911
12:120446719:C:A	F48L	0.911
12:120446719:C:G	F48L	0.911
12:120457095:G:C	D92H	0.911
12:120457162:A:G	Y114C	0.910
12:120457165:T:G	F115C	0.908

dbSNP variants (sampled 300 via entrez): RS1000029821 (12:120457848 C>T), RS1000354719 (12:120451717 G>A), RS1000760678 (12:120447486 C>A,T), RS1000818702 (12:120447203 G>A), RS1000838329 (12:120446384 T>C,G), RS1000961848 (12:120453432 A>G), RS1001188888 (12:120458730 G>A), RS1001295237 (12:120452773 C>T), RS1001310494 (12:120463670 T>C), RS1001330218 (12:120453716 G>A), RS1001354016 (12:120453140 T>G), RS1001414997 (12:120444793 A>C,G), RS1001480729 (12:120457119 G>A), RS1001629083 (12:120450447 T>C), RS1001743547 (12:120464227 T>C)

Disease associations

OMIM: gene MIM:617210 | disease phenotypes: MIM:618839

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 42	Limited	Unknown
inborn mitochondrial metabolism disorder	Limited	Autosomal recessive

Mondo (2): combined oxidative phosphorylation deficiency 42 (MONDO:0030008), inborn mitochondrial metabolism disorder (MONDO:0004069)

Orphanet (0):

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0001410	Decreased liver function
HP:0001511	Intrauterine growth retardation
HP:0001522	Death in infancy
HP:0001622	Premature birth
HP:0001638	Cardiomyopathy
HP:0001790	Nonimmune hydrops fetalis
HP:0001903	Anemia
HP:0001943	Hypoglycemia
HP:0003128	Lactic acidosis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003811	Neonatal death
HP:0008163	Decreased circulating cortisol level
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0011923	Decreased activity of mitochondrial complex I
HP:0011924	Decreased activity of mitochondrial complex III

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004401_6	Reading disability or specific language impairment (pleiotropy)	4.000000e-06
GCST004402_1	Reading disability or specific language impairment adjusted for intelligence quotient (pleiotropy)	1.000000e-06
GCST90002396_536	Mean reticulocyte volume	6.000000e-17
GCST90002405_243	Reticulocyte count	2.000000e-28
GCST90013406_66	Liver enzyme levels (alkaline phosphatase)	7.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0010701	mean reticulocyte volume
EFO:0007986	reticulocyte count
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D028361	Mitochondrial Diseases	C18.452.660

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression	2
Tretinoin	decreases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
tamibarotene	affects expression	1
bisphenol S	increases methylation	1
Acetaminophen	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Valproic Acid	affects expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F1QR	HyCyte HT-29 KO-hGATC	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	PHASE2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT03888716	PHASE1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT03384420	PHASE1/PHASE2	COMPLETED	A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
NCT06051448	PHASE1/PHASE2	COMPLETED	Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
NCT01252979	EARLY_PHASE1	COMPLETED	Ketones & Mitochondrial Heteroplasmy
NCT00786539	Not specified	COMPLETED	Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
NCT00829270	Not specified	COMPLETED	Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
NCT00831948	Not specified	UNKNOWN	Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
NCT01001585	Not specified	TERMINATED	Anesthetic Effects in Mitochondrial Disease
NCT01148550	Not specified	SUSPENDED	Longitudinal Study of Mitochondrial Hepatopathies