GUF1

Summary

GUF1 (GTP binding elongation factor GUF1, HGNC:25799) is a protein-coding gene on chromosome 4p12, encoding Translation factor GUF1, mitochondrial (Q8N442). Promotes mitochondrial protein synthesis.

This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 60558 — RefSeq curated summary.

At a glance

• Gene–disease (curated): infantile spasms (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 507 total — 1 pathogenic
• Phenotypes (HPO): 26
• MANE Select transcript: NM_021927

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25799
Approved symbol	GUF1
Name	GTP binding elongation factor GUF1
Location	4p12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13220
Ensembl gene	ENSG00000151806
Ensembl biotype	protein_coding
OMIM	617064
Entrez	60558

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000281543, ENST00000506793, ENST00000511493, ENST00000513775, ENST00000908204, ENST00000908205, ENST00000953397, ENST00000953398, ENST00000953399, ENST00000953400

RefSeq mRNA: 4 — MANE Select: NM_021927 NM_001345867, NM_001345868, NM_001345869, NM_021927

CCDS: CCDS3468

Canonical transcript exons

ENST00000281543 — 17 exons

Exon	Start	End
ENSE00001001895	44678420	44678787
ENSE00001001898	44680441	44680552
ENSE00001326320	44698544	44700928
ENSE00003484611	44689286	44689409
ENSE00003498615	44691666	44691799
ENSE00003507099	44697408	44697444
ENSE00003534248	44683235	44683318
ENSE00003539262	44681123	44681203
ENSE00003548079	44680694	44680842
ENSE00003554628	44690717	44690860
ENSE00003562070	44689843	44689975
ENSE00003563457	44686510	44686713
ENSE00003605714	44694412	44694513
ENSE00003613581	44688007	44688146
ENSE00003628882	44695615	44695734
ENSE00003640763	44685959	44686023
ENSE00003654760	44682334	44682411

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 88.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6858 / max 248.6367, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47534	23.1843	1815
47536	2.7714	1204
47535	2.7300	1234

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	88.97	gold quality
gastrocnemius	UBERON:0001388	88.87	gold quality
muscle of leg	UBERON:0001383	88.70	gold quality
biceps brachii	UBERON:0001507	88.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.16	gold quality
cortical plate	UBERON:0005343	87.89	gold quality
ganglionic eminence	UBERON:0004023	87.62	gold quality
adrenal tissue	UBERON:0018303	86.86	gold quality
muscle organ	UBERON:0001630	85.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.67	gold quality
calcaneal tendon	UBERON:0003701	85.61	gold quality
anterior cingulate cortex	UBERON:0009835	85.44	gold quality
cingulate cortex	UBERON:0003027	85.31	gold quality
rectum	UBERON:0001052	84.26	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	84.21	gold quality
right frontal lobe	UBERON:0002810	83.64	gold quality
oral cavity	UBERON:0000167	83.52	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.51	gold quality
amygdala	UBERON:0001876	83.40	gold quality
stromal cell of endometrium	CL:0002255	83.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.29	gold quality
mucosa of transverse colon	UBERON:0004991	83.28	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.22	gold quality
heart right ventricle	UBERON:0002080	83.20	gold quality
prefrontal cortex	UBERON:0000451	83.14	gold quality
body of pancreas	UBERON:0001150	82.95	gold quality
heart left ventricle	UBERON:0002084	82.64	gold quality
nucleus accumbens	UBERON:0001882	82.63	gold quality
jejunal mucosa	UBERON:0000399	82.60	gold quality
cardiac ventricle	UBERON:0002082	82.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.17
E-CURD-53	no	122.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

130 targeting GUF1, 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-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 2)

• Homozygous variant in the GUF1 gene identified in the three siblings with West syndrome. (PMID:26486472)
• The structure provides insights into the tRNA-remodeling function of EF-4 on the ribosome and suggests that the displacement of the CCA-end of the A-site tRNA away from the peptidyl transferase center (PTC) is functionally significant. (PMID:27092003)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	guf1	ENSDARG00000029088
mus_musculus	Guf1	ENSMUSG00000029208
rattus_norvegicus	Guf1	ENSRNOG00000002207
drosophila_melanogaster	waw	FBGN0024182
caenorhabditis_elegans		WBGENE00022862

Paralogs (18): MTIF2 (ENSG00000085760), GTPBP1 (ENSG00000100226), EEF1A2 (ENSG00000101210), GSPT1 (ENSG00000103342), EFTUD2 (ENSG00000108883), HBS1L (ENSG00000112339), EIF2S3 (ENSG00000130741), EEFSEC (ENSG00000132394), EFL1 (ENSG00000140598), EEF1A1 (ENSG00000156508), EIF5B (ENSG00000158417), GFM2 (ENSG00000164347), EEF2 (ENSG00000167658), GFM1 (ENSG00000168827), GTPBP2 (ENSG00000172432), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)

Protein

Protein identifiers

Translation factor GUF1, mitochondrial — Q8N442 (reviewed: Q8N442)

Alternative names: Elongation factor 4 homolog, GTPase GUF1, Ribosomal back-translocase

All UniProt accessions (2): Q8N442, D6RBJ0

UniProt curated annotations — full annotation on UniProt →

Function. Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Developmental and epileptic encephalopathy 40 (DEE40) [MIM:617065] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE40 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily.

RefSeq proteins (4): NP_001332796, NP_001332797, NP_001332798, NP_068746* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000640	EFG_V-like	Domain
IPR000795	T_Tr_GTP-bd_dom	Domain
IPR004161	EFTu-like_2	Domain
IPR005225	Small_GTP-bd	Domain
IPR006297	EF-4	Family
IPR009000	Transl_B-barrel_sf	Homologous_superfamily
IPR013842	LepA_CTD	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR031157	G_TR_CS	Conserved_site
IPR035647	EFG_III/V	Homologous_superfamily
IPR035654	LepA_IV	Domain
IPR038363	LepA_C_sf	Homologous_superfamily

Pfam: PF00009, PF00679, PF03144, PF06421

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (12 total): sequence conflict 3, binding site 3, sequence variant 3, transit peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N442-F1	81.89	0.34

Functional residue map

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

Ligand- & substrate-binding residues (3): 75–82; 140–144; 194–197

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (2): translation (GO:0006412), positive regulation of translation (GO:0045727)

GO Molecular Function (6): GTPase activity (GO:0003924), GTP binding (GO:0005525), mitochondrial ribosome binding (GO:0097177), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787), ribosome binding (GO:0043022)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
translation	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribosome binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
ribonucleoprotein complex binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
intracellular organelle lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2962 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GUF1	GUCA1A	P43080	833
GUF1	CIB1	Q99828	816
GUF1	GUCA1B	Q9UMX6	760
GUF1	NCS1	P36610	658
GUF1	CALM1	P02593	654
GUF1	RCVRN	P35243	627
GUF1	GUCY2D	Q02846	615
GUF1	CALML3	P27482	602
GUF1	CABP7	Q86V35	598
GUF1	CALML5	Q9NZT1	598
GUF1	GCA	P28676	576
GUF1	TSFM	P43897	568
GUF1	EEF2	P13639	562
GUF1	CALML6	Q8TD86	554
GUF1	KCNIP1	Q9NZI2	554

IntAct

68 interactions, top by confidence:

A	B	Type	Score
TNFSF14	TMEM11	psi-mi:“MI:0914”(association)	0.670
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
TNF	B4GALT5	psi-mi:“MI:0914”(association)	0.530
SLC22A15	ZFPL1	psi-mi:“MI:0914”(association)	0.530
	ANKRD28	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
C5AR2	ILVBL	psi-mi:“MI:0914”(association)	0.350
TMCO3	POTEF	psi-mi:“MI:0914”(association)	0.350
LAMP2	HSPA12A	psi-mi:“MI:0914”(association)	0.350
TNF	NRP1	psi-mi:“MI:0914”(association)	0.350
MRPS7	ANKRD28	psi-mi:“MI:0914”(association)	0.350
ATAD3A	TMEM223	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
RAMP2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
OSTM1	ILVBL	psi-mi:“MI:0914”(association)	0.350
MAGEA9	CIBAR1	psi-mi:“MI:0914”(association)	0.350
UQCRFS1	VWA8	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
PFDN5	GTPBP10	psi-mi:“MI:0914”(association)	0.350
LRRC25	POTEF	psi-mi:“MI:0914”(association)	0.350
P2RY10	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (117): GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), GUF1 (Proximity Label-MS), GUF1 (Proximity Label-MS), GUF1 (Proximity Label-MS), GUF1 (Affinity Capture-MS)

ESM2 similar proteins: A2RVK7, A2X0Q3, A6QLJ3, O00442, O23617, O81147, O81852, P0CT46, P31754, P37142, P48605, P49080, P49368, P80318, Q01415, Q06265, Q14181, Q2HJ88, Q2KHU3, Q3SWZ4, Q3T0K2, Q4QR75, Q4R3J0, Q4R963, Q5NVF9, Q5R6J8, Q5R7P3, Q5RCW2, Q5RGJ5, Q5XJQ5, Q69LE7, Q6P502, Q6STH5, Q6YXZ7, Q7YRA3, Q84T68, Q8C3X4, Q8GZQ3, Q8K1R3, Q8N442

Diamond homologs: A0L631, A0Q1R8, A1ARG8, A1CLD7, A1D5Z0, A2QU25, A4IR35, A4J7F8, A4QV78, A5D3X6, A5DG70, A5DWY7, A5G4G3, A6Q241, A6QLJ3, A6RGX9, A7A1H2, A7TPD4, A7ZCJ3, A9KKU4, A9S3D3, B0CS18, B0G189, B0K3Y4, B0KA85, B0XZZ2, B3Q991, B3RHG9, B3RXR7, B5EB36, B6H2S6, B6K6L6, B6QW35, B8B2R1, B8DIZ5, B8J444, B8MS24, B9M4U5, B9MJZ5, B9RUN8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	302
Likely benign	146
Benign	21

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
253096	NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)	Pathogenic

SpliceAI

2167 predictions. Top by Δscore:

Variant	Effect	Δscore
4:44680435:TTCTA:T	acceptor_loss	1.0000
4:44680437:CTAG:C	acceptor_loss	1.0000
4:44680439:A:T	acceptor_loss	1.0000
4:44680440:G:GA	acceptor_loss	1.0000
4:44680690:ATAG:A	acceptor_loss	1.0000
4:44680691:TAGGG:T	acceptor_loss	1.0000
4:44680692:A:AG	acceptor_gain	1.0000
4:44680693:G:A	acceptor_loss	1.0000
4:44680693:G:GG	acceptor_gain	1.0000
4:44680743:A:G	acceptor_gain	1.0000
4:44680809:A:T	donor_gain	1.0000
4:44680839:ACCG:A	donor_gain	1.0000
4:44680840:CCG:C	donor_gain	1.0000
4:44680840:CCGGT:C	donor_loss	1.0000
4:44680841:CG:C	donor_gain	1.0000
4:44680841:CGGT:C	donor_loss	1.0000
4:44680842:GG:G	donor_gain	1.0000
4:44680843:G:C	donor_loss	1.0000
4:44680843:G:GG	donor_gain	1.0000
4:44680844:TAAG:T	donor_loss	1.0000
4:44682328:TTTCA:T	acceptor_loss	1.0000
4:44682329:TTCA:T	acceptor_loss	1.0000
4:44682330:TCAGG:T	acceptor_loss	1.0000
4:44682331:CA:C	acceptor_loss	1.0000
4:44682332:A:AG	acceptor_gain	1.0000
4:44682332:AG:A	acceptor_gain	1.0000
4:44682332:AGG:A	acceptor_gain	1.0000
4:44682332:AGGGA:A	acceptor_loss	1.0000
4:44682333:G:GG	acceptor_gain	1.0000
4:44682333:GG:G	acceptor_gain	1.0000

AlphaMissense

4379 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:44680519:A:C	S82R	0.999
4:44680521:T:A	S82R	0.999
4:44680521:T:G	S82R	0.999
4:44680749:A:C	E111D	0.999
4:44680749:A:T	E111D	0.999
4:44680769:T:A	V118D	0.999
4:44681123:G:C	G143R	0.999
4:44681124:G:A	G143D	0.999
4:44681135:T:C	F147L	0.999
4:44681137:T:A	F147L	0.999
4:44681137:T:G	F147L	0.999
4:44682411:G:C	K195N	0.999
4:44682411:G:T	K195N	0.999
4:44689887:G:C	R416P	0.999
4:44689890:T:C	L417P	0.999
4:44680514:G:A	G80D	0.998
4:44680516:A:C	K81Q	0.998
4:44680517:A:T	K81I	0.998
4:44680528:G:C	A85P	0.998
4:44680763:T:C	I116T	0.998
4:44680763:T:G	I116S	0.998
4:44680829:T:C	L138P	0.998
4:44680834:G:C	D140H	0.998
4:44680835:A:G	D140G	0.998
4:44681128:T:A	H144Q	0.998
4:44681128:T:G	H144Q	0.998
4:44682409:A:G	K195E	0.998
4:44682410:A:C	K195T	0.998
4:44689403:G:A	G399D	0.998
4:44689857:G:A	G406E	0.998

dbSNP variants (sampled 300 via entrez): RS1000008740 (4:44676512 C>G), RS1000305928 (4:44689505 C>A,T), RS1000435480 (4:44701306 T>C), RS1000453336 (4:44676874 C>T), RS1000486744 (4:44696108 T>C), RS1000710814 (4:44695301 C>T), RS1000771928 (4:44683284 AAG>A), RS1000814921 (4:44696367 G>A), RS1000842209 (4:44682255 A>G), RS1001079914 (4:44682908 T>C), RS1001114818 (4:44679182 C>T), RS1001188109 (4:44678968 T>A), RS1001376799 (4:44685740 C>A,G,T), RS1001552114 (4:44695936 C>G,T), RS1001572317 (4:44688659 G>A,C)

Disease associations

OMIM: gene MIM:617064 | disease phenotypes: MIM:617065

GenCC curated gene-disease

Disease	Classification	Inheritance
infantile spasms	Supportive	Autosomal dominant
developmental and epileptic encephalopathy, 40	Limited	Unknown

Mondo (3): developmental and epileptic encephalopathy, 40 (MONDO:0014895), long QT syndrome (MONDO:0002442), infantile spasms (MONDO:0018097)

Orphanet (1): West syndrome (Orphanet:3451)

HPO phenotypes

26 total (26 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000707	Abnormality of the nervous system
HP:0000817	Reduced eye contact
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001266	Choreoathetosis
HP:0001285	Spastic tetraparesis
HP:0001336	Myoclonus
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0002120	Cerebral cortical atrophy
HP:0002187	Profound intellectual disability
HP:0002376	Developmental regression
HP:0002521	Hypsarrhythmia
HP:0003577	Congenital onset
HP:0003623	Neonatal onset
HP:0008936	Axial hypotonia
HP:0011121	Abnormal skin morphology
HP:0011968	Feeding difficulties
HP:0012469	Infantile spasms
HP:0012736	Profound global developmental delay
HP:0033258	Sudden unexpected death in epilepsy
HP:0033363	Hyaline membranes
HP:0200134	Epileptic encephalopathy

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003670_15	Systolic blood pressure	9.000000e-07
GCST009391_1112	Metabolite levels	9.000000e-06
GCST010002_6	Refractive error	5.000000e-18

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0010448	3-hydroxyphenylacetic acid measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
deoxynivalenol	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
nivalenol	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	decreases expression, increases abundance, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1
Silicon Dioxide	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01413711	PHASE4	WITHDRAWN	An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms
NCT02092883	PHASE4	COMPLETED	Evaluation of Neuroinflammation in Children With Infantile Spasms
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01575639	PHASE3	COMPLETED	Prednisolone in Infantile Spasms- High Dose Versus Usual Dose
NCT01828437	PHASE3	COMPLETED	Addition of Pyridoxine to Prednisolone in Infantile Spasms
NCT02299115	PHASE3	WITHDRAWN	Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms
NCT02953548	PHASE3	COMPLETED	Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)
NCT02954887	PHASE3	COMPLETED	Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)
NCT00441896	PHASE2	COMPLETED	A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms
NCT00442104	PHASE2	TERMINATED	Open-label Extension to Protocol 1042-0500
NCT02829827	PHASE2	TERMINATED	A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS)
NCT03976076	PHASE2	TERMINATED	A Study of Orally Administered JBPOS0101 in Refractory Infantile Spasms Patients
NCT06819670	PHASE2	RECRUITING	A Study to Prevent Infantile Spasms Relapse
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT01006811	PHASE2/PHASE3	COMPLETED	Use of the Modified Atkins Diet in Infantile Spasms
NCT01549288	PHASE2/PHASE3	WITHDRAWN	Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT06201897	PHASE2/PHASE3	RECRUITING	Cortical Excitability in West Syndrome Using Transcranial Magnetic Stimulation
NCT00001325	Not specified	COMPLETED	Metabolic Abnormalities in Children With Epilepsy
NCT00552045	Not specified	COMPLETED	Epilepsy Phenome/Genome Project
NCT00968136	Not specified	COMPLETED	Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study
NCT01073579	Not specified	COMPLETED	Sabril Patient Registry
NCT01367964	Not specified	UNKNOWN	Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH)
NCT01723787	Not specified	COMPLETED	Genetic Studies in Patients and Families With Infantile Spasms
NCT02220114	Not specified	COMPLETED	Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy
NCT02885389	Not specified	COMPLETED	Molecular Genetics in Infantile Spasms
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05126914	Not specified	RECRUITING	Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
NCT06315829	Not specified	COMPLETED	Artificial Intelligence-based Video Analysis to Detect Infantile Spasms