GATB

Summary

GATB (glutamyl-tRNA amidotransferase subunit B, HGNC:8849) is a protein-coding gene on chromosome 4q31.3, encoding Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial (O75879). 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: 23.4% of cell lines).

Contributes to 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 41.

Source: NCBI Gene 5188 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inborn mitochondrial metabolism disorder (Moderate, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 147 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 11
• Cancer dependency (DepMap): dependent in 23.4% of screened cell lines
• MANE Select transcript: NM_004564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8849
Approved symbol	GATB
Name	glutamyl-tRNA amidotransferase subunit B
Location	4q31.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000059691
Ensembl biotype	protein_coding
OMIM	603645
Entrez	5188

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 13 protein_coding, 4 nonsense_mediated_decay, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000263985, ENST00000503160, ENST00000505211, ENST00000507592, ENST00000508611, ENST00000510396, ENST00000510720, ENST00000511538, ENST00000512306, ENST00000513504, ENST00000515490, ENST00000515564, ENST00000515812, ENST00000515884, ENST00000871432, ENST00000871433, ENST00000871434, ENST00000871435, ENST00000871436, ENST00000871437, ENST00000922191, ENST00000922192, ENST00000945531

RefSeq mRNA: 2 — MANE Select: NM_004564 NM_001363341, NM_004564

CCDS: CCDS3776

Canonical transcript exons

ENST00000263985 — 13 exons

Exon	Start	End
ENSE00000970494	151758772	151758922
ENSE00001081846	151719425	151719538
ENSE00001200760	151670504	151671302
ENSE00002026932	151760807	151761007
ENSE00003471622	151705185	151705269
ENSE00003477078	151688630	151688763
ENSE00003480713	151701329	151701518
ENSE00003481851	151672762	151672896
ENSE00003513226	151703851	151703895
ENSE00003543696	151716876	151717074
ENSE00003610659	151716009	151716131
ENSE00003630407	151707988	151708101
ENSE00003669972	151679813	151679891

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 97.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6003 / max 143.5361, expressed in 1806 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54361	13.0849	1805
54359	0.1477	58
54358	0.1451	63
54360	0.1135	36
54356	0.0509	23
54357	0.0345	26
54355	0.0238	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	97.34	gold quality
apex of heart	UBERON:0002098	97.20	gold quality
right atrium auricular region	UBERON:0006631	96.53	gold quality
spinal cord	UBERON:0002240	95.71	gold quality
heart left ventricle	UBERON:0002084	95.48	gold quality
cardiac atrium	UBERON:0002081	95.47	gold quality
cardiac ventricle	UBERON:0002082	95.27	gold quality
right frontal lobe	UBERON:0002810	94.04	gold quality
prefrontal cortex	UBERON:0000451	93.92	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.78	gold quality
heart	UBERON:0000948	93.51	gold quality
cingulate cortex	UBERON:0003027	93.44	gold quality
anterior cingulate cortex	UBERON:0009835	93.40	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.13	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.76	gold quality
heart right ventricle	UBERON:0002080	91.67	gold quality
neocortex	UBERON:0001950	90.60	gold quality
right adrenal gland	UBERON:0001233	90.43	gold quality
right adrenal gland cortex	UBERON:0035827	90.40	gold quality
frontal cortex	UBERON:0001870	90.39	gold quality
middle temporal gyrus	UBERON:0002771	89.57	gold quality
gastrocnemius	UBERON:0001388	89.56	gold quality
muscle of leg	UBERON:0001383	89.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.30	gold quality
skin of leg	UBERON:0001511	89.30	gold quality
substantia nigra	UBERON:0002038	89.23	gold quality
frontal pole	UBERON:0002795	89.22	gold quality
left adrenal gland	UBERON:0001234	89.03	gold quality
nucleus accumbens	UBERON:0001882	89.03	gold quality
skin of abdomen	UBERON:0001416	89.02	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	30.95
E-MTAB-7316	yes	26.49
E-ANND-3	yes	5.59

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 23.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB. (PMID:19805282)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gatb	ENSDARG00000037309
mus_musculus	Gatb	ENSMUSG00000028085
rattus_norvegicus	Gatb	ENSRNOG00000037655
drosophila_melanogaster	GatB	FBGN0039153
caenorhabditis_elegans		WBGENE00016524

Protein

Protein identifiers

Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial — O75879 (reviewed: O75879)

Alternative names: Cytochrome c oxidase assembly factor PET112 homolog

All UniProt accessions (8): O75879, B4E0P2, D6RDU9, D6REA0, D6RGY4, H0Y8G7, H0Y9F2, H0Y9W6

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.

Tissue specificity. Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle and heart.

Disease relevance. Combined oxidative phosphorylation deficiency 41 (COXPD41) [MIM:618838] An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the GatB/GatE family. GatB subfamily.

RefSeq proteins (2): NP_001350270, NP_004555* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003789	Asn/Gln_tRNA_amidoTrase-B-like	Homologous_superfamily
IPR004413	GatB	Family
IPR006075	Asn/Gln-tRNA_Trfase_suB/E_cat	Domain
IPR014746	Gln_synth/guanido_kin_cat_dom	Homologous_superfamily
IPR017958	Gln-tRNA_amidoTrfase_suB_CS	Conserved_site
IPR017959	Asn/Gln-tRNA_amidoTrfase_suB/E	Family
IPR018027	Asn/Gln_amidotransferase	Domain
IPR023168	GatB_Yqey_C_2	Homologous_superfamily

Pfam: PF02637, PF02934

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 (10 total): sequence conflict 3, sequence variant 2, transit peptide 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75879-F1	85.53	0.66

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 (1): 529

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): GOBP_AMINO_ACID_ACTIVATION, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, AACYNNNNTTCCS_UNKNOWN, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_TRANSLATION, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, GOMF_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, AFFAR_YY1_TARGETS_DN, P300_01, MODULE_278, DANG_BOUND_BY_MYC

GO Biological Process (3): mitochondrial translation (GO:0032543), glutaminyl-tRNAGln biosynthesis via transamidation (GO:0070681), translation (GO:0006412)

GO Molecular Function (9): ATP binding (GO:0005524), glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity (GO:0050567), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740), ligase activity (GO:0016874), carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884), asparaginyl-tRNA synthase (glutamine-hydrolyzing) activity (GO:0050566)

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
carbon-nitrogen ligase activity, with glutamine as amido-N-donor	2
catalytic activity, acting on a tRNA	2
catalytic activity	2
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
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	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

2078 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GATB	QRSL1	Q9H0R6	991
GATB	GATC	O43716	990
GATB	AARS1	P49588	780
GATB	EARS2	Q5JPH6	736
GATB	QARS1	P47897	695
GATB	EPRS1	P07814	690
GATB	NARS2	Q96I59	685
GATB	NARS1	O43776	678
GATB	MT-CO1	P00395	649
GATB	VARS1	P26640	581
GATB	VARS2	Q5ST30	571
GATB	CARS2	Q9HA77	540
GATB	CARS1	P49589	536
GATB	ERV3-1	Q14264	530
GATB	ERVFRD-1	P60508	528

IntAct

73 interactions, top by confidence:

A	B	Type	Score
QRSL1	GATC	psi-mi:“MI:0915”(physical association)	0.790
QRSL1	GATB	psi-mi:“MI:0915”(physical association)	0.790
QRSL1	GATB	psi-mi:“MI:0914”(association)	0.790
TNFSF8	TOR1B	psi-mi:“MI:0914”(association)	0.640
GATC	GATB	psi-mi:“MI:0914”(association)	0.640
LINC01561	GATB	psi-mi:“MI:0915”(physical association)	0.590
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
GATC	NME4	psi-mi:“MI:0914”(association)	0.530
LRP1	NME4	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
UQCRFS1	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
PCNA	GATB	psi-mi:“MI:0915”(physical association)	0.370
TNFSF8	NME4	psi-mi:“MI:0914”(association)	0.350
MRPL12		psi-mi:“MI:0914”(association)	0.350
MUC20	RAD51B	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
rep	VWA8	psi-mi:“MI:0914”(association)	0.350
MAGEA9	CIBAR1	psi-mi:“MI:0914”(association)	0.350
MALSU1	VWA8	psi-mi:“MI:0914”(association)	0.350
PTCD1	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (143): GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Affinity Capture-MS), GATB (Negative Genetic), GATB (Positive Genetic), GATB (Negative Genetic), GATB (Positive Genetic), GATB (Positive Genetic)

ESM2 similar proteins: A0AVT1, A1L1C5, A1L259, A2RTX5, A3KMX8, A5PJD0, A6H630, A6NGE7, B8ZXI1, O60678, O70467, O75879, P32455, P32456, Q0V9S0, Q0ZDF7, Q22017, Q283N4, Q2KHV5, Q4R526, Q4R646, Q58EM4, Q5D1D6, Q5R998, Q5RBE1, Q5ZIE6, Q61107, Q68EH8, Q6AXB1, Q6AYT5, Q6DJ95, Q6DJA3, Q6ING7, Q6NTW6, Q6PA41, Q6ZN66, Q7SXP2, Q7T010, Q8BIJ6, Q8BLY2

Diamond homologs: A1RRJ9, A1U487, A3MV63, A4FWR6, A4VIA8, A4WKM4, A4XQK5, A5FWV7, A5UK12, A5UM78, A5VZ21, A6UPR3, A6UU57, A6VBJ9, A6VFN7, A6VGK4, A7I6L5, A8M9G2, A8YTZ7, A9AA47, A9AAZ8, B0KQF9, B0R5F0, B0UHC4, B1JDP2, B1LUB2, B1YAJ4, B1ZIK6, B6IPU4, B7V024, B8D4W5, B8IL55, B9DMT7, C1DQ36, C3K6Y3, C3MPS2, C3MYR6, C3N5E8, C3NE02, C3NHQ1

SIGNOR signaling

1 interactions.

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

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 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
Mitochondrial ribosome-associated quality control	5	14.6×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	7	19.0×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	75
Likely benign	21
Benign	26

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
559411	NM_004564.3(GATB):c.580_581del (p.Ser194fs)	Pathogenic
559412	NM_004564.3(GATB):c.408T>G (p.Phe136Leu)	Pathogenic
3767205	NM_004564.3(GATB):c.1331G>A (p.Ser444Asn)	Likely pathogenic
4813760	NM_004564.3(GATB):c.741del (p.Thr248fs)	Likely pathogenic

SpliceAI

2764 predictions. Top by Δscore:

Variant	Effect	Δscore
4:151671299:TTACC:T	acceptor_loss	1.0000
4:151671300:TACC:T	acceptor_loss	1.0000
4:151671301:ACCT:A	acceptor_loss	1.0000
4:151671302:CCTAG:C	acceptor_loss	1.0000
4:151671303:C:CA	acceptor_loss	1.0000
4:151672761:CCA:C	donor_gain	1.0000
4:151679903:C:CT	acceptor_gain	1.0000
4:151679903:C:T	acceptor_gain	1.0000
4:151679904:A:T	acceptor_gain	1.0000
4:151688764:C:CC	acceptor_gain	1.0000
4:151705266:TAGT:T	acceptor_gain	1.0000
4:151705270:C:CC	acceptor_gain	1.0000
4:151707990:ATGG:A	donor_gain	1.0000
4:151708098:CCCT:C	acceptor_gain	1.0000
4:151708099:CCT:C	acceptor_gain	1.0000
4:151708099:CCTC:C	acceptor_gain	1.0000
4:151708100:CT:C	acceptor_gain	1.0000
4:151708100:CTC:C	acceptor_gain	1.0000
4:151708101:TCT:T	acceptor_gain	1.0000
4:151708102:C:CC	acceptor_gain	1.0000
4:151716870:GCCTA:G	donor_loss	1.0000
4:151716871:CCTAC:C	donor_loss	1.0000
4:151716872:CTA:C	donor_loss	1.0000
4:151716873:TA:T	donor_loss	1.0000
4:151716874:A:C	donor_loss	1.0000
4:151716875:C:A	donor_loss	1.0000
4:151717071:CTGC:C	acceptor_gain	1.0000
4:151719419:ACTT:A	donor_loss	1.0000
4:151719421:TTAC:T	donor_loss	1.0000
4:151719422:TACA:T	donor_loss	1.0000

AlphaMissense

3647 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:151719453:C:A	R138M	0.998
4:151719449:C:A	K139N	0.997
4:151719449:C:G	K139N	0.997
4:151719452:C:A	R138S	0.997
4:151719452:C:G	R138S	0.997
4:151719453:C:G	R138T	0.997
4:151701498:A:G	L343P	0.996
4:151716934:A:C	S194R	0.996
4:151716934:A:T	S194R	0.996
4:151716936:T:G	S194R	0.996
4:151758817:A:C	N94K	0.996
4:151758817:A:T	N94K	0.996
4:151708025:C:A	K280N	0.995
4:151708025:C:G	K280N	0.995
4:151716122:A:G	L217P	0.995
4:151716932:C:T	G195D	0.995
4:151716943:C:A	E191D	0.995
4:151716943:C:G	E191D	0.995
4:151719451:T:C	K139E	0.995
4:151701515:G:C	F337L	0.994
4:151701515:G:T	F337L	0.994
4:151701517:A:G	F337L	0.994
4:151708072:A:G	S265P	0.994
4:151716939:C:G	D193H	0.994
4:151716944:T:A	E191V	0.994
4:151719450:T:A	K139M	0.994
4:151719450:T:G	K139T	0.994
4:151705206:C:G	R314P	0.993
4:151716056:A:G	L239P	0.993
4:151758860:T:A	K80I	0.993

dbSNP variants (sampled 300 via entrez): RS1000038835 (4:151673509 C>T), RS1000047906 (4:151679085 G>A), RS1000078704 (4:151678767 C>T), RS1000100724 (4:151722852 C>T), RS1000142831 (4:151678280 C>T), RS10001439 (4:151696167 T>G), RS10001603 (4:151726425 T>A,C), RS1000162078 (4:151741864 T>A), RS1000165563 (4:151691286 G>C), RS1000166820 (4:151729666 A>G), RS1000181481 (4:151756345 G>C), RS1000191016 (4:151724196 C>T), RS1000215798 (4:151705491 G>A), RS1000224916 (4:151685241 T>A), RS1000314936 (4:151749065 T>G)

Disease associations

OMIM: gene MIM:603645 | disease phenotypes: MIM:618838

GenCC curated gene-disease

Disease	Classification	Inheritance
inborn mitochondrial metabolism disorder	Moderate	Autosomal recessive

Mondo (2): combined oxidative phosphorylation deficiency 41 (MONDO:0030007), inborn mitochondrial metabolism disorder (MONDO:0004069)

Orphanet (0):

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0001511	Intrauterine growth retardation
HP:0001622	Premature birth
HP:0001640	Cardiomegaly
HP:0001790	Nonimmune hydrops fetalis
HP:0001903	Anemia
HP:0001943	Hypoglycemia
HP:0003128	Lactic acidosis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0008163	Decreased circulating cortisol level

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005316_619	Intelligence (MTAG)	7.000000e-12
GCST012227_1332	Hip circumference adjusted for BMI	4.000000e-08
GCST012227_1333	Hip circumference adjusted for BMI	3.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0008039	BMI-adjusted hip circumference

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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases expression	3
Acetaminophen	decreases expression	3
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	2
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
nobiletin	decreases reaction, increases expression	1
sodium arsenate	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
bisphenol AF	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases oxidation, affects cotreatment, increases abundance	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Atrazine	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Latex	increases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
T-2 Toxin	increases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1

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