ALG14

Summary

ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit, HGNC:28287) is a protein-coding gene on chromosome 1p21.3, encoding UDP-N-acetylglucosamine transferase subunit ALG14 (Q96F25). Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. It is a common-essential gene (DepMap: required in 94.9% of cancer cell lines).

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified.

Source: NCBI Gene 199857 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital myasthenic syndrome 15 (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 162 total
• Phenotypes (HPO): 76
• Cancer dependency (DepMap): dependent in 94.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_144988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28287
Approved symbol	ALG14
Name	ALG14 UDP-N-acetylglucosaminyltransferase subunit
Location	1p21.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC19780
Ensembl gene	ENSG00000172339
Ensembl biotype	protein_coding
OMIM	612866
Entrez	199857

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000370205, ENST00000495856, ENST00000507727, ENST00000897799

RefSeq mRNA: 2 — MANE Select: NM_144988 NM_001305242, NM_144988

CCDS: CCDS752

Canonical transcript exons

ENST00000370205 — 4 exons

Exon	Start	End
ENSE00001179453	95027129	95027260
ENSE00001452065	94974405	94983306
ENSE00001452066	95072763	95072951
ENSE00003613144	95064866	95065017

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 87.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0930 / max 113.8635, expressed in 1781 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13427	11.7513	1755
13428	5.3417	1657

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	87.93	gold quality
jejunal mucosa	UBERON:0000399	87.14	gold quality
colonic mucosa	UBERON:0000317	85.83	gold quality
mucosa of sigmoid colon	UBERON:0004993	84.98	gold quality
adult organism	UBERON:0007023	83.55	gold quality
right adrenal gland	UBERON:0001233	83.18	gold quality
oral cavity	UBERON:0000167	82.87	gold quality
left adrenal gland	UBERON:0001234	82.85	gold quality
caput epididymis	UBERON:0004358	82.61	gold quality
palpebral conjunctiva	UBERON:0001812	82.59	gold quality
calcaneal tendon	UBERON:0003701	82.59	gold quality
right adrenal gland cortex	UBERON:0035827	82.58	gold quality
seminal vesicle	UBERON:0000998	82.37	gold quality
duodenum	UBERON:0002114	82.30	gold quality
left adrenal gland cortex	UBERON:0035825	82.01	gold quality
upper leg skin	UBERON:0004262	81.71	gold quality
adrenal gland	UBERON:0002369	81.55	gold quality
adrenal cortex	UBERON:0001235	81.43	gold quality
skin of hip	UBERON:0001554	81.42	gold quality
sural nerve	UBERON:0015488	81.17	gold quality
right lobe of liver	UBERON:0001114	81.07	gold quality
tibial nerve	UBERON:0001323	80.71	gold quality
left testis	UBERON:0004533	80.54	gold quality
tibia	UBERON:0000979	80.41	gold quality
pigmented layer of retina	UBERON:0001782	80.15	gold quality
right testis	UBERON:0004534	80.06	gold quality
nasal cavity mucosa	UBERON:0001826	79.96	gold quality
testis	UBERON:0000473	79.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.85	gold quality
corpus callosum	UBERON:0002336	79.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting ALG14, 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-8068	99.98	73.85	2376
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-618	97.62	67.46	861
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-6874-3P	97.29	66.34	975

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 94.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase (PMID:16100110)
• We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome (PMID:23404334)
• New ALG14 congenital disorder of glycosylation with early and lethal neurodegeneration with myasthenic and myopathic features. (PMID:28733338)
• We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14. (PMID:30221345)
• A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. (PMID:33751823)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	alg14	ENSDARG00000103093
mus_musculus	Alg14	ENSMUSG00000039887
rattus_norvegicus	Alg14	ENSRNOG00000011528
drosophila_melanogaster	Alg14	FBGN0030645
caenorhabditis_elegans		WBGENE00019725

Protein

Protein identifiers

UDP-N-acetylglucosamine transferase subunit ALG14 — Q96F25 (reviewed: Q96F25)

Alternative names: Asparagine-linked glycosylation 14 homolog

All UniProt accessions (1): Q96F25

UniProt curated annotations — full annotation on UniProt →

Function. Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharides are transferred from the lipid to nascent proteins by oligosaccharyltransferases. Functions as a protein-membrane adapter recruiting ALG13 at the cytoplasmic face of the endoplasmic reticulum, where the complex catalyzes the second step of dolichol pyrophosphate biosynthesis, transferring a beta1,4-linked N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to GlcNAc-pyrophosphatedolichol (Gn-PDol) to produce N,N’-diacetylchitobiosyl diphosphodolichol. N,N’-diacetylchitobiosyl diphosphodolichol is a substrate for ALG1, the following enzyme in the biosynthetic pathway.

Subunit / interactions. Forms with ALG13 the active heterodimeric UDP-N-acetylglucosamine transferase complex.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. The disease is caused by variants affecting the gene represented in this entry. Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF) [MIM:619031] An autosomal recessive neurodevelopmental disorder that manifests in early infancy with infantile spasms and developmental delay. Clinical features include severely impaired intellectual development, epilepsy, autism, hyperactivity and other behavioral problems, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes. The disease may be caused by variants affecting the gene represented in this entry. Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) [MIM:619036] An autosomal recessive disorder characterized by severe, early lethal neurodegeneration, myasthenic and myopathic features, progressive cerebral atrophy with myelination defects, and intractable epilepsy. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the ALG14 family.

RefSeq proteins (2): NP_001292171, NP_659425* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013969	Oligosacch_biosynth_Alg14	Family

Pfam: PF08660

UniProt features (10 total): sequence variant 6, topological domain 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96F25-F1	91.06	0.74

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-5633231	Defective ALG14 causes ALG14-CMS
R-HSA-1643685	Disease
R-HSA-3781860	Diseases associated with N-glycosylation of proteins
R-HSA-3781865	Diseases of glycosylation
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 269 (showing top): GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KEGG_N_GLYCAN_BIOSYNTHESIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, ACEVEDO_LIVER_CANCER_UP, chr1p21, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_CYTOPLASMIC_SIDE_OF_MEMBRANE, GOCC_TRANSFERASE_COMPLEX, GOCC_SIDE_OF_MEMBRANE, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (2): protein N-linked glycosylation (GO:0006487), dolichol-linked oligosaccharide biosynthetic process (GO:0006488)

GO Molecular Function (2): protein-membrane adaptor activity (GO:0043495), protein binding (GO:0005515)

GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), UDP-N-acetylglucosamine transferase complex (GO:0043541), cytoplasmic side of endoplasmic reticulum membrane (GO:0098554), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
Diseases associated with N-glycosylation of proteins	1
Diseases of glycosylation	1
Diseases of metabolism	1
Post-translational protein modification	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endoplasmic reticulum membrane	2
glycoprotein biosynthetic process	1
protein N-linked glycosylation	1
carbohydrate derivative biosynthetic process	1
protein-macromolecule adaptor activity	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
transferase complex, transferring phosphorus-containing groups	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
cytoplasmic side of membrane	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALG14	ALG13	Q9NP73	999
ALG14	DPAGT1	Q9H3H5	994
ALG14	ALG1	Q9BT22	751
ALG14	ALG11	Q2TAA5	746
ALG14	ALG3	Q92685	744
ALG14	ALG12	Q9BV10	736
ALG14	ALG6	Q9Y672	729
ALG14	ALG8	Q9BVK2	710
ALG14	GFPT1	Q06210	700
ALG14	GMPPB	Q9Y5P6	689
ALG14	ALG5	Q9Y673	670
ALG14	DOK7	Q18PE1	666
ALG14	PREPL	Q4J6C6	661
ALG14	COLQ	Q9Y215	657
ALG14	DPM1	O60762	645

IntAct

17 interactions, top by confidence:

A	B	Type	Score
HAUS7	GOLIM4	psi-mi:“MI:0914”(association)	0.350
FADS3	DHX16	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TSPAN31	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TNFRSF10C	SLC22A23	psi-mi:“MI:0914”(association)	0.350
CD53	RAP1BL	psi-mi:“MI:0914”(association)	0.350
TSPAN1	TLCD2	psi-mi:“MI:0914”(association)	0.350
FADS3	PEX7	psi-mi:“MI:0914”(association)	0.350
LRTM2	ABCC4	psi-mi:“MI:0914”(association)	0.350
CD63	ABCC4	psi-mi:“MI:0914”(association)	0.350
SLC11A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
SLC13A2	LGALS8	psi-mi:“MI:0914”(association)	0.350
SLC44A1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (19): ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Proximity Label-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS), ALG14 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M4FCN7, A2YTP9, D3ZLY0, F4IF99, F4IV16, K7PEY4, O54753, O80437, P11172, P13439, P31754, Q08B22, Q0VC13, Q0WUI9, Q2TAA5, Q3TZM9, Q566S6, Q5FVP8, Q5JK24, Q5R514, Q5R6U1, Q5R7A2, Q5R7Z6, Q5RJY4, Q60DX1, Q6AY85, Q6P2H8, Q6P312, Q6P342, Q6PAZ3, Q6UTZ2, Q70VZ8, Q7ZW24, Q8K3K7, Q8L7M0, Q8L9C4, Q921Q3, Q94AH8, Q94BX4, Q96F25

Diamond homologs: O14199, P0CM10, P0CM11, P38242, Q4WNB5, Q5A5N6, Q6AY85, Q6BMD0, Q6CF02, Q6CJG3, Q6FV75, Q750Y9, Q96F25, Q9D081

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	88
Likely benign	61
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1155 predictions. Top by Δscore:

Variant	Effect	Δscore
1:94983172:T:A	donor_gain	1.0000
1:95064861:CTTA:C	donor_loss	1.0000
1:95064862:TTA:T	donor_loss	1.0000
1:95064863:TACC:T	donor_loss	1.0000
1:95064864:ACCA:A	donor_loss	1.0000
1:95064865:C:G	donor_loss	1.0000
1:95072762:CCGGA:C	donor_gain	1.0000
1:94983111:A:AC	donor_gain	0.9900
1:94983112:C:CC	donor_gain	0.9900
1:95027259:TA:T	acceptor_gain	0.9900
1:95027261:C:CC	acceptor_gain	0.9900
1:95064860:ACTT:A	donor_loss	0.9900
1:95064864:A:AC	donor_gain	0.9900
1:95064865:C:CC	donor_gain	0.9900
1:95065014:CCAC:C	acceptor_gain	0.9900
1:95065015:CACC:C	acceptor_gain	0.9900
1:95065016:ACCTG:A	acceptor_loss	0.9900
1:95065018:C:CA	acceptor_loss	0.9900
1:95065019:T:C	acceptor_loss	0.9900
1:95072757:ACTT:A	donor_loss	0.9900
1:95072759:TTACC:T	donor_loss	0.9900
1:95072760:TACCG:T	donor_loss	0.9900
1:95072761:A:AC	donor_gain	0.9900
1:95072761:A:C	donor_loss	0.9900
1:95072762:C:CC	donor_gain	0.9900
1:95072796:C:CA	donor_gain	0.9900
1:95072826:C:CT	donor_gain	0.9900
1:95072827:T:TT	donor_gain	0.9900
1:94983033:CTA:C	donor_gain	0.9800
1:94983231:T:A	donor_gain	0.9800

AlphaMissense

1385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:94983197:C:G	R177P	0.998
1:94983205:G:C	S174R	0.998
1:94983205:G:T	S174R	0.998
1:94983207:T:G	S174R	0.998
1:94983132:A:G	W199R	0.997
1:94983132:A:T	W199R	0.997
1:94983209:T:A	E173V	0.997
1:95064923:A:C	S77R	0.997
1:95064923:A:T	S77R	0.997
1:95064925:T:G	S77R	0.997
1:94983199:G:C	C176W	0.996
1:94983200:C:T	C176Y	0.996
1:94983280:A:C	C149W	0.996
1:94983137:A:T	V197D	0.995
1:94983278:A:T	V150D	0.995
1:94983295:G:C	N144K	0.995
1:94983295:G:T	N144K	0.995
1:95027223:C:G	R109P	0.995
1:95064934:C:G	D74H	0.995
1:94983173:C:T	G185E	0.994
1:94983198:G:T	R177S	0.994
1:94983218:A:T	V170D	0.994
1:94983281:C:T	C149Y	0.994
1:94983282:A:G	C149R	0.994
1:94983293:C:T	G145E	0.994
1:94983298:A:C	C143W	0.994
1:95027229:C:G	R107T	0.994
1:95065002:T:A	E51V	0.994
1:94983130:C:A	W199C	0.993
1:94983130:C:G	W199C	0.993

dbSNP variants (sampled 300 via entrez): RS1000042066 (1:95064221 T>C), RS1000099343 (1:95059469 T>G), RS1000126856 (1:95003746 C>T), RS1000223850 (1:95027077 G>A), RS1000227578 (1:95011788 T>C), RS1000263993 (1:95032343 C>G,T), RS1000341652 (1:95043132 A>T), RS1000361282 (1:94997562 A>T), RS1000399664 (1:94991475 C>A), RS1000399861 (1:95062230 G>A), RS1000408449 (1:94997805 T>C), RS1000454625 (1:95012833 T>C), RS1000496312 (1:95018561 A>C), RS1000498991 (1:95004086 G>A), RS1000547029 (1:95018283 C>G,T)

Disease associations

OMIM: gene MIM:612866 | disease phenotypes: MIM:616227, MIM:619031, MIM:619036

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital myasthenic syndrome 15	Strong	Autosomal recessive
myopathy, epilepsy, and progressive cerebral atrophy	Strong	Autosomal recessive
congenital disorder of glycosylation	Strong	Autosomal recessive
congenital myasthenic syndromes with glycosylation defect	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	AR

Mondo (5): congenital myasthenic syndrome 15 (MONDO:0014542), intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (MONDO:0033572), myopathy, epilepsy, and progressive cerebral atrophy (MONDO:0033619), (MONDO:0018144), congenital disorder of glycosylation (MONDO:0015286)

Orphanet (2): Congenital myasthenic syndrome with glycosylation defect (Orphanet:353327), Congenital myasthenic syndrome (Orphanet:590)

HPO phenotypes

76 total (30 of 76 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000262	Turricephaly
HP:0000280	Coarse facial features
HP:0000303	Mandibular prognathia
HP:0000347	Micrognathia
HP:0000508	Ptosis
HP:0000581	Blepharophimosis
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000739	Anxiety
HP:0000752	Hyperactivity
HP:0001166	Arachnodactyly
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001344	Absent speech
HP:0001371	Flexion contracture
HP:0001382	Joint hypermobility
HP:0001522	Death in infancy
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001762	Talipes equinovarus
HP:0001763	Pes planus
HP:0002059	Cerebral atrophy
HP:0002188	Delayed CNS myelination
HP:0002359	Frequent falls

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001414_16	Phospholipid levels (plasma)	5.000000e-08
GCST001838_4	Palmitic acid (16:0) levels	3.000000e-11
GCST001840_8	Stearic acid (18:0) levels	2.000000e-18
GCST008103_62	Bipolar disorder	6.000000e-07
GCST008103_84	Bipolar disorder	1.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	4
Acetaminophen	decreases expression	3
bisphenol S	decreases expression, affects cotreatment, increases expression	2
(+)-JQ1 compound	decreases expression	2
Cisplatin	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric oxide	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
K 7174	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Manganese	increases abundance, increases expression	1
Methotrexate	increases expression	1
Phenobarbital	affects expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism