IER3IP1

Summary

IER3IP1 (immediate early response 3 interacting protein 1, HGNC:18550) is a protein-coding gene on chromosome 18q21.1, encoding Immediate early response 3-interacting protein 1 (Q9Y5U9). Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size. It is a selective cancer dependency (DepMap: 16.1% of cell lines).

This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12.

Source: NCBI Gene 51124 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 122 total
• Phenotypes (HPO): 42
• Cancer dependency (DepMap): dependent in 16.1% of screened cell lines
• MANE Select transcript: NM_016097

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18550
Approved symbol	IER3IP1
Name	immediate early response 3 interacting protein 1
Location	18q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000134049
Ensembl biotype	protein_coding
OMIM	609382
Entrez	51124

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000256433, ENST00000639845, ENST00000910615, ENST00000932440, ENST00000932441

RefSeq mRNA: 1 — MANE Select: NM_016097 NM_016097

CCDS: CCDS11933

Canonical transcript exons

ENST00000256433 — 3 exons

Exon	Start	End
ENSE00001237806	47152834	47156232
ENSE00001237812	47176187	47176364
ENSE00003678740	47157436	47157537

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.9992 / max 1418.2269, expressed in 1821 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171836	61.9992	1821

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.74	gold quality
secondary oocyte	CL:0000655	99.59	gold quality
kidney epithelium	UBERON:0004819	99.00	gold quality
palpebral conjunctiva	UBERON:0001812	98.66	gold quality
tibia	UBERON:0000979	98.61	gold quality
deltoid	UBERON:0001476	98.43	gold quality
left ventricle myocardium	UBERON:0006566	98.09	gold quality
epithelial cell of pancreas	CL:0000083	98.03	gold quality
tibialis anterior	UBERON:0001385	97.93	gold quality
eye	UBERON:0000970	97.92	gold quality
quadriceps femoris	UBERON:0001377	97.89	gold quality
ileal mucosa	UBERON:0000331	97.83	gold quality
vastus lateralis	UBERON:0001379	97.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.50	gold quality
epithelium of nasopharynx	UBERON:0001951	97.42	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.42	gold quality
nasopharynx	UBERON:0001728	97.40	gold quality
biceps brachii	UBERON:0001507	97.39	gold quality
visceral pleura	UBERON:0002401	97.39	gold quality
myocardium	UBERON:0002349	97.36	gold quality
upper arm skin	UBERON:0004263	97.25	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.11	gold quality
germinal epithelium of ovary	UBERON:0001304	96.97	gold quality
upper leg skin	UBERON:0004262	96.91	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.91	gold quality
esophagus squamous epithelium	UBERON:0006920	96.78	gold quality
gingival epithelium	UBERON:0001949	96.66	gold quality
nasal cavity epithelium	UBERON:0005384	96.56	gold quality
parotid gland	UBERON:0001831	96.53	gold quality
cartilage tissue	UBERON:0002418	96.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting IER3IP1, 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-3163	100.00	77.23	8605
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-3121-3P	99.82	71.96	3630

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• IER3IP1 gene was mapped to chromosome 18q12 and showed a high expression in heart, skeletal muscle and kidney, a moderate expression in liver and brain and a low expression in placenta, lung and peripheral blood leukocyte. (PMID:15276200)
• Matrine can inhibit the growth of K562 cells, and transiently increase the expression level of IER3IP1 gene in a dose-dependent manner. (PMID:18476594)
• IER3IP1 gene expression is regulated by Sp1, Sp3, and the TNF-a; induction of the gene in HepG2 liver cancer cell line (PMID:19885854)
• Inhibiting the expression of IER3IP1 can inhibit erythroid differentiation and elevate the proliferation of K562 cells. (PMID:19951536)
• We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene-dependent clinical variability. (PMID:22991235)
• 233 T > C mutation in the IER3IP1 causes microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome. (PMID:28711742)
• A human tissue screen identifies a regulator of ER secretion as a brain-size determinant. (PMID:33122427)
• Essential requirement for IER3IP1 in B cell development. (PMID:37934820)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ier3ip1	ENSDARG00000039601
mus_musculus	Ier3ip1	ENSMUSG00000090000
drosophila_melanogaster	CG32069	FBGN0052069
caenorhabditis_elegans	W09G3.8	WBGENE00012371

Protein

Protein identifiers

Immediate early response 3-interacting protein 1 — Q9Y5U9 (reviewed: Q9Y5U9)

All UniProt accessions (2): A0A1W2PNR9, Q9Y5U9

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size. Required for secretion of extracellular matrix proteins. Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors. Acts as a regulator of the unfolded protein response (UPR).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highest levels in heart, skeletal muscle, and kidney.

Disease relevance. Microcephaly, epilepsy, and diabetes syndrome 1 (MEDS1) [MIM:614231] An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the YOS1 family.

RefSeq proteins (1): NP_057181* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013880	Yos1	Family

Pfam: PF08571

UniProt features (5 total): transmembrane region 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y5U9-F1	61.57	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 255 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_EPITHELIUM_DEVELOPMENT, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_EXTRACELLULAR_MATRIX_ORGANIZATION, GOBP_PANCREAS_DEVELOPMENT, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_ENDOCRINE_PANCREAS_DEVELOPMENT, GOBP_CELL_MATURATION, GOBP_POSITIVE_REGULATION_OF_EXTRACELLULAR_MATRIX_ORGANIZATION, GOCC_COATED_VESICLE

GO Biological Process (16): type B pancreatic cell differentiation (GO:0003309), positive regulation of extracellular matrix constituent secretion (GO:0003331), chromatin organization (GO:0006325), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), endoplasmic reticulum organization (GO:0007029), brain development (GO:0007420), negative regulation of cell population proliferation (GO:0008285), gene expression (GO:0010467), protein transport (GO:0015031), organ growth (GO:0035265), glucose homeostasis (GO:0042593), negative regulation of apoptotic process (GO:0043066), cell maturation (GO:0048469), positive regulation of protein secretion (GO:0050714), insulin metabolic process (GO:1901142), regulation of fibroblast apoptotic process (GO:2000269)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020), COPII-coated ER to Golgi transport vesicle (GO:0030134)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
positive regulation of secretion by cell	2
regulation of apoptotic process	2
endomembrane system	2
intracellular membrane-bounded organelle	2
endocrine pancreas development	1
enteroendocrine cell differentiation	1
regulation of extracellular matrix constituent secretion	1
extracellular matrix constituent secretion	1
positive regulation of extracellular matrix organization	1
cellular component organization	1
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
organelle organization	1
endomembrane system organization	1
central nervous system development	1
animal organ development	1
head development	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
macromolecule biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
multicellular organismal process	1
developmental growth	1
carbohydrate homeostasis	1
apoptotic process	1
negative regulation of programmed cell death	1
cell development	1
cellular developmental process	1
anatomical structure maturation	1
protein secretion	1
regulation of protein secretion	1
positive regulation of protein transport	1
protein metabolic process	1
fibroblast apoptotic process	1
binding	1

Protein interactions and networks

STRING

1024 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IER3IP1	YIPF6	Q96EC8	695
IER3IP1	SLC19A2	O60779	662
IER3IP1	RFX6	Q8HWS3	659
IER3IP1	ERG28	Q9UKR5	602
IER3IP1	GLIS3	Q8NEA6	594
IER3IP1	WFS1	O76024	593
IER3IP1	TMEM147	Q9BVK8	573
IER3IP1	PTF1A	Q7RTS3	572
IER3IP1	ZFP57	Q9NU63	571
IER3IP1	KRTCAP2	Q8N6L1	570
IER3IP1	YIPF5	Q969M3	570
IER3IP1	HDHD2	Q9H0R4	555
IER3IP1	TRMT10A	Q8TBZ6	544
IER3IP1	ABCC8	Q09428	529
IER3IP1	EMC7	Q9NPA0	527

IntAct

138 interactions, top by confidence:

A	B	Type	Score
CDIPT	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
YIPF4	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
IER3IP1	GPR42	psi-mi:“MI:0915”(physical association)	0.560
IER3IP1	PIGP	psi-mi:“MI:0915”(physical association)	0.560
MOSPD3	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
IER3IP1	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
KCNA1	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
POMK	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
CST1	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM167A	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM237	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
HERPUD2	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
PIGP	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
ZFYVE27	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TMX2	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
SCN3B	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
ELOVL4	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
EBP	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
FAM210B	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TRHR	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
SLC30A4	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
AIG1	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM258	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TM4SF18	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
PLP1	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (68): IER3IP1 (Affinity Capture-RNA), IER3IP1 (Synthetic Lethality), VPS13C (Affinity Capture-MS), GNG5 (Affinity Capture-MS), IER3IP1 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), PTPRG (Affinity Capture-MS), IER3IP1 (Affinity Capture-MS), IER3IP1 (Two-hybrid), IER3IP1 (Two-hybrid), IER3IP1 (Two-hybrid), IER3IP1 (Two-hybrid), IER3IP1 (Two-hybrid), IER3IP1 (Two-hybrid), IER3IP1 (Two-hybrid)

ESM2 similar proteins: A2XSY1, A9CAZ8, B3Y064, B8JLV7, B9TRX0, O13825, O15243, O22622, O24060, O65085, O89013, O95214, O95807, P46125, P56557, P85007, Q0JDK9, Q1JQC2, Q32PD8, Q39080, Q3B8G7, Q3E834, Q3SYT0, Q3SZ87, Q3SZL9, Q4V7U1, Q4VBI2, Q561T9, Q5G235, Q5PSV5, Q5R4C3, Q5RDE9, Q5ZJD9, Q6PDU4, Q6QI68, Q8G6P5, Q8JHF0, Q9CQ74, Q9CQR7, Q9CR20

Diamond homologs: O13825, P85007, Q1JQC2, Q3B8G7, Q3E834, Q4VBI2, Q9CR20, Q9Y5U9, Q54WR6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	55
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

920 predictions. Top by Δscore:

Variant	Effect	Δscore
18:47156128:A:C	donor_gain	1.0000
18:47156130:TTC:T	donor_gain	1.0000
18:47156131:T:TA	donor_gain	1.0000
18:47156131:TCT:T	donor_gain	1.0000
18:47156228:TGGCA:T	acceptor_gain	1.0000
18:47156231:CA:C	acceptor_gain	1.0000
18:47156233:C:CC	acceptor_gain	1.0000
18:47176182:CTCA:C	donor_gain	1.0000
18:47176183:TCA:T	donor_loss	1.0000
18:47176184:CA:C	donor_loss	1.0000
18:47176185:A:AC	donor_gain	1.0000
18:47176186:C:CA	donor_gain	1.0000
18:47176186:CT:C	donor_gain	1.0000
18:47176186:CTG:C	donor_gain	1.0000
18:47176186:CTGT:C	donor_gain	1.0000
18:47176186:CTGTT:C	donor_gain	1.0000
18:47154794:AATAC:A	donor_gain	0.9900
18:47154888:C:CC	acceptor_gain	0.9900
18:47156106:T:TA	donor_gain	0.9900
18:47156129:CTT:C	donor_gain	0.9900
18:47156132:C:CT	donor_gain	0.9900
18:47156133:T:TT	donor_gain	0.9900
18:47156134:A:AC	donor_gain	0.9900
18:47156135:C:CC	donor_gain	0.9900
18:47156230:GCA:G	acceptor_gain	0.9900
18:47156231:CAC:C	acceptor_gain	0.9900
18:47157534:CCAA:C	acceptor_gain	0.9900
18:47157535:CAA:C	acceptor_gain	0.9900
18:47157535:CAAC:C	acceptor_gain	0.9900
18:47157538:C:CC	acceptor_gain	0.9900

AlphaMissense

507 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:47156213:G:C	N71K	0.997
18:47156213:G:T	N71K	0.997
18:47176226:C:G	A18P	0.997
18:47156226:A:C	L67W	0.996
18:47157465:A:G	L55P	0.996
18:47176225:G:T	A18D	0.996
18:47176227:G:C	N17K	0.996
18:47176227:G:T	N17K	0.996
18:47156226:A:G	L67S	0.995
18:47176198:A:G	F27S	0.995
18:47176219:G:T	A20E	0.995
18:47157503:A:C	F42L	0.994
18:47157503:A:T	F42L	0.994
18:47157505:A:G	F42L	0.994
18:47176235:A:G	C15R	0.994
18:47176195:A:G	L28P	0.993
18:47176216:A:T	V21E	0.993
18:47176201:C:G	R26P	0.992
18:47156220:A:T	I69K	0.991
18:47156223:A:T	I68K	0.991
18:47157474:A:G	L52P	0.990
18:47176213:A:G	L22P	0.990
18:47176213:A:T	L22Q	0.990
18:47176237:A:G	L14P	0.990
18:47156181:C:T	G82E	0.989
18:47156229:G:T	P66Q	0.989
18:47176195:A:T	L28H	0.989
18:47176247:C:G	A11P	0.989
18:47156229:G:C	P66R	0.987
18:47156182:C:G	G82R	0.986

dbSNP variants (sampled 300 via entrez): RS1000179915 (18:47164933 T>C), RS1000232387 (18:47164495 T>G), RS1000245989 (18:47153588 C>G,T), RS1000273143 (18:47174260 A>G), RS1000290574 (18:47173365 G>A), RS1000360809 (18:47158289 A>C), RS1000820468 (18:47152876 T>C), RS1000878114 (18:47172924 C>A), RS1001081402 (18:47173077 G>A,T), RS1001142915 (18:47159115 A>G), RS1001198561 (18:47157811 T>C), RS1001246944 (18:47173197 C>T), RS1001325940 (18:47173681 G>A), RS1001431442 (18:47166645 A>T), RS1001512202 (18:47159423 A>T)

Disease associations

OMIM: gene MIM:609382 | disease phenotypes: MIM:614231, MIM:117100

GenCC curated gene-disease

Disease	Classification	Inheritance
primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	Strong	Autosomal recessive
microcephaly, epilepsy, and diabetes syndrome 1	Strong	Autosomal recessive

Mondo (5): microcephaly, epilepsy, and diabetes syndrome (MONDO:0100328), microcephaly, epilepsy, and diabetes syndrome 1 (MONDO:0031481), epilepsy (MONDO:0005027), self-limited epilepsy with centrotemporal spikes (MONDO:0007295), (MONDO:0013647)

Orphanet (2): Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558), Self-limited epilepsy with centrotemporal spikes (Orphanet:1945)

HPO phenotypes

42 total (30 of 42 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000046	Small scrotum
HP:0000135	Hypogonadism
HP:0000212	Gingival overgrowth
HP:0000218	High palate
HP:0000293	Full cheeks
HP:0000341	Narrow forehead
HP:0000463	Anteverted nares
HP:0000508	Ptosis
HP:0000648	Optic atrophy
HP:0000819	Diabetes mellitus
HP:0000938	Osteopenia
HP:0000952	Jaundice
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001319	Neonatal hypotonia
HP:0001321	Cerebellar hypoplasia
HP:0001348	Brisk reflexes
HP:0001513	Obesity
HP:0002069	Bilateral tonic-clonic seizure
HP:0002079	Hypoplasia of the corpus callosum
HP:0002123	Generalized myoclonic seizure
HP:0002187	Profound intellectual disability
HP:0002188	Delayed CNS myelination
HP:0002197	Generalized-onset seizure
HP:0002205	Recurrent respiratory infections
HP:0002521	Hypsarrhythmia
HP:0002756	Pathologic fracture

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010136_31	Fruit consumption	2.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D004827	Epilepsy	C10.228.140.490

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
arsenite	affects binding, increases reaction	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression, increases abundance	1
Dronabinol	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004637	PHASE4	COMPLETED	Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy
NCT00043914	PHASE4	COMPLETED	Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy
NCT00132223	PHASE4	UNKNOWN	Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients
NCT00133081	PHASE4	UNKNOWN	Study to Improve the Treatment of Epilepsy (SITE)
NCT00137709	PHASE4	UNKNOWN	Hormone Profiles in Adults With Newly Diagnosed Epilepsy
NCT00154076	PHASE4	COMPLETED	A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies
NCT00165828	PHASE4	TERMINATED	Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization
NCT00181116	PHASE4	COMPLETED	Levetiracetam for Benign Rolandic Epilepsy
NCT00207935	PHASE4	COMPLETED	Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population
NCT00215592	PHASE4	COMPLETED	Open Label, Zonegran (Zonisamide) In Partial Onset Seizures
NCT00266604	PHASE4	COMPLETED	A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
NCT00288639	PHASE4	COMPLETED	Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER).
NCT00312676	PHASE4	UNKNOWN	Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote
NCT00323947	PHASE4	COMPLETED	Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy
NCT00385411	PHASE4	COMPLETED	Study of Valproate in Young Patients Suffering From Epilepsy
NCT00522418	PHASE4	TERMINATED	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00537940	PHASE4	COMPLETED	Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures
NCT00552526	PHASE4	UNKNOWN	Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy
NCT00564915	PHASE4	COMPLETED	RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy
NCT00571155	PHASE4	COMPLETED	Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery
NCT00572195	PHASE4	COMPLETED	RNS® System LTT Study
NCT00610532	PHASE4	TERMINATED	Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy
NCT00630357	PHASE4	COMPLETED	Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy
NCT00630630	PHASE4	COMPLETED	Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy
NCT00630968	PHASE4	COMPLETED	S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00631150	PHASE4	COMPLETED	A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00659958	PHASE4	COMPLETED	ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs
NCT00713622	PHASE4	COMPLETED	Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate
NCT00807989	PHASE4	COMPLETED	The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy
NCT00832884	PHASE4	COMPLETED	The Safety of Intravenous Lacosamide
NCT00869622	PHASE4	COMPLETED	Antiepileptic Drugs and Osteoporotic Prevention Trial
NCT00896987	PHASE4	COMPLETED	Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies
NCT00952081	PHASE4	COMPLETED	A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients
NCT01118455	PHASE4	TERMINATED	Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures
NCT01127165	PHASE4	COMPLETED	Low and High Dose Zonisamide in Children as Monotherapy
NCT01127256	PHASE4	COMPLETED	Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation
NCT01140867	PHASE4	COMPLETED	Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy
NCT01175954	PHASE4	COMPLETED	Cognitive and Behavioral Effects of Lacosamide
NCT01229735	PHASE4	COMPLETED	Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures
NCT01244724	PHASE4	TERMINATED	Lexapro for Major Depression in Patients With Epilepsy