GYG2

Summary

GYG2 (glycogenin 2, HGNC:4700) is a protein-coding gene on chromosome Xp22.33, encoding Glycogenin-2 (O15488). Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme.

This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3’ truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 8908 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 291 total — 1 pathogenic
• MANE Select transcript: NM_001079855

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4700
Approved symbol	GYG2
Name	glycogenin 2
Location	Xp22.33
Locus type	gene with protein product
Status	Approved
Aliases	GN-2
Ensembl gene	ENSG00000056998
Ensembl biotype	protein_coding
OMIM	300198
Entrez	8908

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 49 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000353656, ENST00000381157, ENST00000381161, ENST00000381163, ENST00000398806, ENST00000453106, ENST00000469234, ENST00000520904, ENST00000868637, ENST00000868638, ENST00000868639, ENST00000868640, ENST00000868641, ENST00000868642, ENST00000868643, ENST00000868644, ENST00000868645, ENST00000868646, ENST00000868647, ENST00000868648, ENST00000868649, ENST00000868650, ENST00000922781, ENST00000922782, ENST00000922783, ENST00000922784, ENST00000922785, ENST00000922786, ENST00000922787, ENST00000922788, ENST00000922789, ENST00000922790, ENST00000922791, ENST00000922792, ENST00000922793, ENST00000922794, ENST00000922795, ENST00000922796, ENST00000922797, ENST00000922798, ENST00000922799, ENST00000922800, ENST00000958336, ENST00000958337, ENST00000958338, ENST00000958339, ENST00000958340, ENST00000958341, ENST00000958342, ENST00000958343, ENST00000958344, ENST00000958345

RefSeq mRNA: 5 — MANE Select: NM_001079855 NM_001079855, NM_001184702, NM_001184703, NM_001184704, NM_003918

CCDS: CCDS14121, CCDS48074, CCDS55365

Canonical transcript exons

ENST00000398806 — 11 exons

Exon	Start	End
ENSE00000664491	2877200	2877307
ENSE00001917377	2881052	2882818
ENSE00002102790	2828930	2828975
ENSE00003500720	2856498	2856624
ENSE00003507737	2861522	2861722
ENSE00003507910	2875810	2875914
ENSE00003547823	2843213	2843354
ENSE00003556697	2853980	2854154
ENSE00003569036	2859843	2860065
ENSE00003631159	2854993	2855155
ENSE00003644225	2830061	2830195

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 93.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2456 / max 305.8586, expressed in 986 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195398	3.9680	870
195395	1.1171	401
195397	0.5275	298
195401	0.1734	76
195399	0.1694	89
195394	0.1037	27
195396	0.0938	29
195393	0.0463	16
195392	0.0290	10
195400	0.0172	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adipose tissue	UBERON:0001013	93.17	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.44	gold quality
connective tissue	UBERON:0002384	90.80	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.67	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.58	gold quality
omental fat pad	UBERON:0010414	90.26	gold quality
peritoneum	UBERON:0002358	90.13	gold quality
spinal cord	UBERON:0002240	89.87	gold quality
right lobe of liver	UBERON:0001114	86.00	gold quality
tibia	UBERON:0000979	84.30	gold quality
thoracic mammary gland	UBERON:0005200	83.15	gold quality
mammary gland	UBERON:0001911	82.82	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.59	gold quality
ventricular zone	UBERON:0003053	82.40	gold quality
mammary duct	UBERON:0001765	80.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.83	gold quality
substantia nigra	UBERON:0002038	79.71	gold quality
liver	UBERON:0002107	79.52	gold quality
hypothalamus	UBERON:0001898	79.41	gold quality
epithelium of mammary gland	UBERON:0003244	78.26	gold quality
islet of Langerhans	UBERON:0000006	78.14	gold quality
embryo	UBERON:0000922	78.09	gold quality
midbrain	UBERON:0001891	77.61	gold quality
ganglionic eminence	UBERON:0004023	76.51	gold quality
paraflocculus	UBERON:0005351	76.31	gold quality
middle frontal gyrus	UBERON:0002702	76.07	silver quality
frontal pole	UBERON:0002795	74.91	gold quality
body of stomach	UBERON:0001161	74.89	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	74.35	gold quality
amygdala	UBERON:0001876	74.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

73 targeting GYG2, 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-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-7152-3P	99.97	67.47	849
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-548A-3P	99.76	70.58	3524

Literature-anchored findings (GeneRIF, showing 4)

• The glucosylation of glycogenin-2 was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1. (PMID:24239874)
• This is the first evaluation of humans without GN2 expression. Our data indicate that GN2 is not required for liver glycogen synthesis and glucagon-stimulated glucose release. (PMID:25751106)
• Study demonstrates expression of glycogenin 2 in glycogenin 1-deficient patients, suggesting that glycogenin 2 rescues the formation of glycogen in patients with glycogenin 1 deficiency. (PMID:28453664)
• Transcriptome-wide analysis reveals GYG2 as a mitochondria-related aging biomarker in human subcutaneous adipose tissue. (PMID:38062989)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	gyg2	ENSDARG00000033380

Paralogs (1): GYG1 (ENSG00000163754)

Protein

Protein identifiers

Glycogenin-2 — O15488 (reviewed: O15488)

All UniProt accessions (3): O15488, E5RIC9, J3QSZ3

UniProt curated annotations — full annotation on UniProt →

Function. Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. It catalyzes the formation of a short alpha (1,4)-glucosyl chain covalently attached via a glucose 1-O-tyrosyl linkage to internal tyrosine residues and these chains act as primers for the elongation reaction catalyzed by glycogen synthase.

Subunit / interactions. Homodimer, tightly complexed to glycogen synthase.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Detected in liver (at protein level). Expressed preferentially in liver, heart, and pancreas.

Post-translational modifications. Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228.

Pathway. Glycan biosynthesis; glycogen biosynthesis.

Similarity. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.

Isoforms (6)

UniProt ID	Names	Canonical?
O15488-1	Alpha	yes
O15488-2	Beta
O15488-3	Gamma
O15488-4	Delta
O15488-5	Epsilon
O15488-6	Zeta

RefSeq proteins (5): NP_001073324, NP_001171631, NP_001171632, NP_001171633, NP_003909 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002495	Glyco_trans_8	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR050587	GNT1/Glycosyltrans_8	Family

Pfam: PF01501

Enzyme classification (BRENDA):

• EC 2.4.1.186 — glycogenin glucosyltransferase (BRENDA: 13 organisms, 50 substrates, 15 inhibitors, 5 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-GLUCOSE	0.002–0.0044	2
N-DODECYL-BETA-D-MALTOSIDE	0.1	1
P-NITROPHENYL-ALPHA-MALTOSIDE	3	1

Catalyzed reactions (Rhea), 2 shown:

• L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = alpha-D-glucosyl-L-tyrosyl-[glycogenin] + UDP + H(+) (RHEA:23360)
• 1,4-alpha-D-glucosyl-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = 1,4-alpha-D-glucosyl-L-tyrosyl-[glycogenin] + UDP + H(+) (RHEA:56560)

UniProt features (79 total): binding site 30, helix 16, strand 9, splice variant 5, sequence variant 5, turn 4, modified residue 3, mutagenesis site 2, sequence conflict 2, chain 1, site 1, glycosylation site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4UEG	X-RAY DIFFRACTION	1.93
8Z0A	ELECTRON MICROSCOPY	2.84

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15488-F1	72.37	0.44

Functional residue map

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

Catalytic / active sites (1): 119 (important for catalytic activity)

Ligand- & substrate-binding residues (30): 42; 110; 119; 135; 135; 135; 136; 136; 137; 137; 137; 42 …

Post-translational modifications (3): 368, 399, 459

Glycosylation sites (1): 228

Mutagenesis-validated functional residues (2):

Position	Phenotype
228	loss of autoglucosylation.
230	no loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-3322077	Glycogen synthesis
R-HSA-3858516	Glycogen storage disease type 0 (liver GYS2)
R-HSA-3878781	Glycogen storage disease type IV (GBE1)
R-HSA-70221	Glycogen breakdown (glycogenolysis)

MSigDB gene sets: 67 (showing top): MOOTHA_GLYCOGEN_METABOLISM, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_1_UP, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, BROWNE_HCMV_INFECTION_24HR_UP, MODULE_206, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, NAKAYAMA_SOFT_TISSUE_TUMORS_PCA2_DN, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GRADE_COLON_AND_RECTAL_CANCER_UP, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, PARENT_MTOR_SIGNALING_UP, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, ZHANG_TARGETS_OF_EWSR1_FLI1_FUSION, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY

GO Biological Process (1): glycogen biosynthetic process (GO:0005978)

GO Molecular Function (5): glycogenin glucosyltransferase activity (GO:0008466), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Glycogen metabolism	2
Glycogen storage diseases	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
glycogen metabolic process	1
glucan biosynthetic process	1
UDP-glucosyltransferase activity	1
transferase activity	1
cation binding	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1065 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GYG2	TRIM7	Q9C029	938
GYG2	AMY1B	P04745	872
GYG2	AMY2A	P04746	869
GYG2	AMY2B	P19961	828
GYG2	GBE1	Q04446	742
GYG2	ARSF	P54793	709
GYG2	AGL	P35573	700
GYG2	GYS1	P13807	699
GYG2	PYGM	P11217	673
GYG2	PYGB	P11216	665
GYG2	PYGL	P06737	657
GYG2	GYS2	P54840	654
GYG2	PRKX	P51817	643
GYG2	TRAT1	Q6PIZ9	589
GYG2	UGP2	Q16851	572

IntAct

21 interactions, top by confidence:

A	B	Type	Score
GYG2	GYS1	psi-mi:“MI:0914”(association)	0.660
GYS1	GYG2	psi-mi:“MI:0914”(association)	0.660
GYS1	GYG2	psi-mi:“MI:0915”(physical association)	0.660
GYS2	GYG2	psi-mi:“MI:0915”(physical association)	0.550
STBD1	MID1	psi-mi:“MI:0914”(association)	0.530
GYG1	SRP14	psi-mi:“MI:0914”(association)	0.350
TNFRSF10A	SDCBP	psi-mi:“MI:0914”(association)	0.350
GPRASP2	GYG2	psi-mi:“MI:0914”(association)	0.350
PYGB	GYG2	psi-mi:“MI:0914”(association)	0.350
DACH2	GYG2	psi-mi:“MI:0914”(association)	0.350
AMY2A	GYG2	psi-mi:“MI:0914”(association)	0.350
PHKA2	GYG2	psi-mi:“MI:0914”(association)	0.350
AMY1A	GYG2	psi-mi:“MI:0914”(association)	0.350
GYG2	UBB	psi-mi:“MI:0914”(association)	0.350
FOS	GYG2	psi-mi:“MI:0914”(association)	0.350
KSR2	GYG2	psi-mi:“MI:0914”(association)	0.350
SMYD3	GYG2	psi-mi:“MI:0914”(association)	0.350
IKBKG	GYG2	psi-mi:“MI:0407”(direct interaction)	0.000

BioGRID (51): GYG2 (Affinity Capture-MS), GYG2 (Two-hybrid), GYG2 (Co-fractionation), GYG2 (Affinity Capture-MS), OSCP1 (Affinity Capture-MS), GYG2 (Affinity Capture-MS), GYS1 (Affinity Capture-MS), GYG2 (Affinity Capture-MS), GYG1 (Affinity Capture-MS), SIRT5 (Affinity Capture-MS), RAE1 (Affinity Capture-MS), SLC16A10 (Affinity Capture-MS), WDR54 (Affinity Capture-MS), OSTC (Affinity Capture-MS), SLC25A24 (Affinity Capture-MS)

ESM2 similar proteins: A6ZPQ2, A6ZQE9, A6ZQJ2, B3LQ40, C4R360, C4R941, C7G304, F4KED2, H2KYQ5, O08730, O15488, O22693, O22893, O43061, O43062, O80518, P12954, P13280, P15938, P25569, P36090, P38274, P40360, P46976, P46982, P47011, P53059, P53745, P87056, Q09679, Q09680, Q09681, Q4PSY4, Q59KJ7, Q59R28, Q59YS7, Q59ZI3, Q5A687, Q5AD72, Q5AP90

Diamond homologs: A6ZQJ2, A7A018, C4R941, H2KYQ5, J9VPM2, O08730, O15488, P13280, P36143, P46976, P47011, Q9LSB1, Q9R062, V5ILS6, Q8GWW4, F4HZC3, F4JMI5, Q8GWB7, Q8VZP6, Q9FZ37, Q8W4A7, O43062, F4KED2, Q9XGN3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	96
Likely benign	83
Benign	59

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	Pathogenic

SpliceAI

1965 predictions. Top by Δscore:

Variant	Effect	Δscore
X:2832115:C:G	donor_gain	1.0000
X:2853968:T:G	acceptor_gain	1.0000
X:2853975:TCCA:T	acceptor_loss	1.0000
X:2853977:CAGG:C	acceptor_loss	1.0000
X:2853978:A:AG	acceptor_gain	1.0000
X:2853978:AG:A	acceptor_gain	1.0000
X:2853979:G:GA	acceptor_loss	1.0000
X:2853979:G:GG	acceptor_gain	1.0000
X:2853979:GG:G	acceptor_gain	1.0000
X:2854154:GGT:G	donor_loss	1.0000
X:2854156:T:A	donor_loss	1.0000
X:2855153:ACGGT:A	donor_loss	1.0000
X:2855154:CGGTA:C	donor_loss	1.0000
X:2855156:G:GG	donor_gain	1.0000
X:2855156:GTAA:G	donor_loss	1.0000
X:2855157:TAAG:T	donor_loss	1.0000
X:2856581:T:TG	donor_gain	1.0000
X:2856586:T:TA	donor_gain	1.0000
X:2856587:A:AA	donor_gain	1.0000
X:2856622:GCA:G	donor_gain	1.0000
X:2856625:G:GG	donor_gain	1.0000
X:2859839:TCA:T	acceptor_loss	1.0000
X:2859841:A:AG	acceptor_gain	1.0000
X:2859842:G:GA	acceptor_gain	1.0000
X:2859842:GA:G	acceptor_gain	1.0000
X:2859842:GATTC:G	acceptor_gain	1.0000
X:2860066:G:GG	donor_gain	1.0000
X:2861519:CA:C	acceptor_loss	1.0000
X:2861520:A:AG	acceptor_gain	1.0000
X:2861520:A:G	acceptor_loss	1.0000

AlphaMissense

3092 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:2854104:T:A	W123R	0.996
X:2854104:T:C	W123R	0.996
X:2854132:T:A	V132D	0.996
X:2843231:T:A	V40D	0.995
X:2855056:T:A	W161R	0.994
X:2855056:T:C	W161R	0.994
X:2855087:T:A	V171D	0.994
X:2854094:G:C	K119N	0.993
X:2854094:G:T	K119N	0.993
X:2855074:A:C	S167R	0.993
X:2855076:C:A	S167R	0.993
X:2855076:C:G	S167R	0.993
X:2854130:T:G	C131W	0.992
X:2854134:T:C	F133L	0.992
X:2854136:C:A	F133L	0.992
X:2854136:C:G	F133L	0.992
X:2855068:T:C	F165L	0.992
X:2855070:C:A	F165L	0.992
X:2855070:C:G	F165L	0.992
X:2859892:T:A	W253R	0.992
X:2859892:T:C	W253R	0.992
X:2853999:T:C	F88L	0.991
X:2854001:C:A	F88L	0.991
X:2854001:C:G	F88L	0.991
X:2859871:T:C	F246L	0.991
X:2859873:T:A	F246L	0.991
X:2859873:T:G	F246L	0.991
X:2881135:G:C	W476C	0.991
X:2881135:G:T	W476C	0.991
X:2854106:G:C	W123C	0.989

dbSNP variants (sampled 300 via entrez): RS1000013692 (X:2870241 G>A,T), RS1000066844 (X:2832104 C>T), RS1000069061 (X:2870356 T>C), RS1000133404 (X:2856411 T>C), RS1000168994 (X:2868327 G>A,T), RS1000432805 (X:2879416 C>G,T), RS1000704173 (X:2859451 A>T), RS1000888379 (X:2878713 G>A,C), RS1000943881 (X:2833269 G>A), RS1001019758 (X:2871560 C>T), RS1001063132 (X:2859136 C>T), RS1001148587 (X:2833719 G>T), RS1001249256 (X:2832301 A>C,G), RS1001349339 (X:2844000 A>G), RS1001377249 (X:2830792 A>C)

Disease associations

OMIM: gene MIM:300198 | disease phenotypes: MIM:256000

GenCC curated gene-disease

Mondo (1): Leigh syndrome (MONDO:0009723)

Orphanet (1): Leigh syndrome (Orphanet:506)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	3
Cyclosporine	decreases expression, decreases methylation	3
trichostatin A	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
Dexamethasone	increases expression, affects cotreatment	2
Estradiol	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cytarabine	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01721733	PHASE2	COMPLETED	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
NCT02352896	PHASE2	COMPLETED	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01780168	Not specified	RECRUITING	The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT03137355	Not specified	RECRUITING	The International Registry for Leigh Syndrome
NCT05277363	Not specified	WITHDRAWN	A Study of the Natural Course of SURF1 Deficiency
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT06967831	Not specified	RECRUITING	Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells