EI24

Summary

EI24 (EI24 autophagy associated transmembrane protein, HGNC:13276) is a protein-coding gene on chromosome 11q24.2, encoding Etoposide-induced protein 2.4 homolog (O14681). Acts as a negative growth regulator via p53-mediated apoptosis pathway.

This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8.

Source: NCBI Gene 9538 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 32 total — 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_004879

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13276
Approved symbol	EI24
Name	EI24 autophagy associated transmembrane protein
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	PIG8, TP53I8, EPG4
Ensembl gene	ENSG00000149547
Ensembl biotype	protein_coding
OMIM	605170
Entrez	9538

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 34 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000278903, ENST00000524723, ENST00000527131, ENST00000527235, ENST00000527520, ENST00000527842, ENST00000529765, ENST00000529812, ENST00000530540, ENST00000531636, ENST00000534546, ENST00000615917, ENST00000618552, ENST00000620753, ENST00000864180, ENST00000864181, ENST00000864182, ENST00000864183, ENST00000864184, ENST00000864185, ENST00000864186, ENST00000864187, ENST00000864188, ENST00000864189, ENST00000864190, ENST00000864191, ENST00000864192, ENST00000864193, ENST00000864194, ENST00000864195, ENST00000864196, ENST00000864197, ENST00000864198, ENST00000919881, ENST00000919882, ENST00000965161, ENST00000965162

RefSeq mRNA: 3 — MANE Select: NM_004879 NM_001290135, NM_001330419, NM_004879

CCDS: CCDS73410, CCDS76493, CCDS81643

Canonical transcript exons

ENST00000278903 — 11 exons

Exon	Start	End
ENSE00001223067	125582346	125582420
ENSE00002151556	125569477	125569573
ENSE00003547947	125578133	125578257
ENSE00003561769	125581211	125581322
ENSE00003590798	125575263	125575408
ENSE00003652940	125583521	125584684
ENSE00003658622	125576255	125576315
ENSE00003664844	125572458	125572569
ENSE00003684696	125580093	125580204
ENSE00003785932	125578949	125579068
ENSE00003789903	125577504	125577570

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 97.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.2644 / max 131.4080, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117443	26.1434	1814
117444	2.5941	1356
117442	1.5270	1098

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.92	gold quality
right lobe of liver	UBERON:0001114	97.66	gold quality
body of pancreas	UBERON:0001150	97.57	gold quality
islet of Langerhans	UBERON:0000006	97.53	gold quality
oocyte	CL:0000023	97.37	gold quality
rectum	UBERON:0001052	97.09	gold quality
gastrocnemius	UBERON:0001388	96.79	gold quality
pancreas	UBERON:0001264	96.59	gold quality
muscle of leg	UBERON:0001383	96.59	gold quality
stromal cell of endometrium	CL:0002255	96.51	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.22	gold quality
esophagus mucosa	UBERON:0002469	96.19	gold quality
skin of leg	UBERON:0001511	96.13	gold quality
skin of abdomen	UBERON:0001416	96.09	gold quality
liver	UBERON:0002107	95.98	gold quality
parotid gland	UBERON:0001831	95.87	gold quality
body of stomach	UBERON:0001161	95.74	gold quality
esophagus	UBERON:0001043	95.72	gold quality
saliva-secreting gland	UBERON:0001044	95.51	gold quality
gall bladder	UBERON:0002110	95.50	gold quality
lower esophagus mucosa	UBERON:0035834	95.46	gold quality
minor salivary gland	UBERON:0001830	95.45	gold quality
gingival epithelium	UBERON:0001949	95.40	gold quality
zone of skin	UBERON:0000014	95.32	gold quality
nipple	UBERON:0002030	95.25	gold quality
cortical plate	UBERON:0005343	95.24	gold quality
stomach	UBERON:0000945	95.20	gold quality
lower esophagus	UBERON:0013473	95.19	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.18	gold quality
popliteal artery	UBERON:0002250	95.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	no	3.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, MYC, TP53

miRNA regulators (miRDB)

76 targeting EI24, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-129-5P	99.88	70.26	3273
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-221-5P	99.86	65.45	1052
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4698	99.84	71.41	4303

Literature-anchored findings (GeneRIF, showing 10)

• identify the EI24/PIG8 status as a potentially new prognostic marker of chemotherapy responsiveness (PMID:17981155)
• our data suggest that inactivation of EI24 and CHEK1 through two independent mechanisms contributes to the development of CACX. (PMID:21154811)
• Ei24 is a novel E2F1 target gene contributing to the survival of p53-deficient cells upon UVC irradiation and thus may have a potential significance as a therapeutic target of certain chemotherapy for treating p53-deficient tumors. (PMID:24014029)
• Findings establish EI24 as a critical suppressor of tumor progression. (PMID:24280371)
• Ei24 can bind specifically to IMPbeta1 and IMPalpha2 to impede their normal role in nuclear import. (PMID:24821838)
• Low EI24 and high IGF-1R expressions in lung cancer patients. (PMID:26342551)
• EI24 is an essential player in ubiquitin-proteasome system-autophagy crosstalk via degradation of RING E3 ligases. (PMID:27541728)
• Low EI24 expression is associated with triple negative breast cancer. (PMID:28038450)
• EI24 is a prognostic biomarker and impacts poor outcome in non-small cell lung cancer. (PMID:30784913)
• miR483 promotes the development of colorectal cancer by inhibiting the expression level of EI24. (PMID:34109432)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ei24	ENSDARG00000053840
mus_musculus	Ei24	ENSMUSG00000062762
rattus_norvegicus	Ei24	ENSRNOG00000030391
drosophila_melanogaster	tank	FBGN0031635
caenorhabditis_elegans		WBGENE00018150

Protein

Protein identifiers

Etoposide-induced protein 2.4 homolog — O14681 (reviewed: O14681)

Alternative names: p53-induced gene 8 protein

All UniProt accessions (9): O14681, A0A087WV44, B7ZB74, E9PK61, E9PL33, E9PLB8, E9PM05, E9PQN7, E9PS58

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a negative growth regulator via p53-mediated apoptosis pathway. Regulates formation of degradative autolysosomes during autophagy.

Subunit / interactions. Interacts with BCL2.

Subcellular location. Nucleus membrane. Cytoplasm. Endoplasmic reticulum membrane.

Disease relevance. EI24 is on a chromosomal region frequently deleted in solid tumors, and it is thought to play a role in breast and cervical cancer. Particularly, expression analysis of EI24 in cancerous tissues shows that EI24 loss is associated with tumor invasiveness.

Induction. By p53/TP53.

Similarity. Belongs to the EI24 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O14681-1	1	yes
O14681-3	2

RefSeq proteins (3): NP_001277064, NP_001317348, NP_004870* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR059112	CysZ/EI24	Family

Pfam: PF07264

UniProt features (27 total): modified residue 7, sequence variant 6, transmembrane region 5, sequence conflict 5, initiator methionine 1, chain 1, splice variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14681-F1	86.98	0.59

Functional residue map

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

Post-translational modifications (7): 47, 56, 320, 326, 330, 2, 46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 242 (showing top): GOBP_RESPONSE_TO_UV_C, MORF_BUB1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_UV, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GTCTACC_MIR379, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, MORF_HDAC2, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_NEUROMUSCULAR_PROCESS_CONTROLLING_BALANCE

GO Biological Process (10): apoptotic process (GO:0006915), intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), response to xenobiotic stimulus (GO:0009410), macroautophagy (GO:0016236), negative regulation of cell growth (GO:0030308), negative regulation of protein import into nucleus (GO:0042308), neuromuscular process controlling balance (GO:0050885), cellular response to UV-C (GO:0071494), positive regulation of intrinsic apoptotic signaling pathway (GO:2001244), autophagy (GO:0006914)

GO Molecular Function (2): importin-alpha family protein binding (GO:0061676), protein binding (GO:0005515)

GO Cellular Component (8): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), nuclear membrane (GO:0031965), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
intracellular membrane-bounded organelle	3
cellular anatomical structure	3
intrinsic apoptotic signaling pathway	2
endomembrane system	2
organelle membrane	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
DNA damage response	1
response to chemical	1
autophagosome assembly	1
autophagy	1
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
negative regulation of cellular process	1
protein import into nucleus	1
regulation of protein import into nucleus	1
negative regulation of nucleocytoplasmic transport	1
negative regulation of intracellular protein transport	1
negative regulation of protein localization to nucleus	1
musculoskeletal movement	1
neuromuscular process	1
response to UV-C	1
cellular response to UV	1
positive regulation of intracellular signal transduction	1
positive regulation of apoptotic signaling pathway	1
regulation of intrinsic apoptotic signaling pathway	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
protein binding	1
binding	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
nucleus	1
nuclear envelope	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

654 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EI24	EPG5	Q9HCE0	732
EI24	VMP1	Q96GC9	666
EI24	TP53	P04637	568
EI24	BCL2L1	Q07817	540
EI24	TCHP	Q9BT92	519
EI24	GARNL3	Q5VVW2	444
EI24	AEN	Q8WTP8	444
EI24	TRIM26	Q12899	436
EI24	PERP	Q96FX8	431
EI24	RCHY1	Q96PM5	426
EI24	TRIM41	Q8WV44	425
EI24	CARNMT1	Q8N4J0	405
EI24	TBRG1	Q3YBR2	398
EI24	CCNG1	P51959	397
EI24	SKIC3	Q6PGP7	395

IntAct

90 interactions, top by confidence:

A	B	Type	Score
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
	DDX3X	psi-mi:“MI:0914”(association)	0.630
TMED8	EI24	psi-mi:“MI:0915”(physical association)	0.560
EI24	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
EI24	PGRMC2	psi-mi:“MI:0915”(physical association)	0.560
EI24	BNIP2	psi-mi:“MI:0915”(physical association)	0.560
EI24	RABAC1	psi-mi:“MI:0915”(physical association)	0.560
EI24	TMED8	psi-mi:“MI:0915”(physical association)	0.560
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
RALB	EI24	psi-mi:“MI:0914”(association)	0.510
STOM	EI24	psi-mi:“MI:0914”(association)	0.510
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
EI24	CCR8	psi-mi:“MI:0915”(physical association)	0.370
UBE2D1	EI24	psi-mi:“MI:0915”(physical association)	0.370
UBE2D2	EI24	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
	EI24	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
COPB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
EMC9	ENAH	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (130): EI24 (Proximity Label-MS), EI24 (Affinity Capture-MS), EI24 (Affinity Capture-MS), STOM (Affinity Capture-MS), EI24 (Affinity Capture-MS), EI24 (Proximity Label-MS), EI24 (Proximity Label-MS), EI24 (Affinity Capture-MS), EI24 (Affinity Capture-MS), EI24 (Affinity Capture-MS), EI24 (Affinity Capture-MS), EI24 (Proximity Label-MS), EI24 (Two-hybrid), EI24 (Two-hybrid), EI24 (Two-hybrid)

ESM2 similar proteins: A1D3P4, A2QPL8, A4IIC3, A5DAI1, B0XPV4, B2WFD4, C0NLX2, C0RZV6, C1G565, C1GZK1, C4JDF8, C5GN10, C5JCV0, C6H4B5, D4AT37, D4DGR3, D6WMX4, E0W1I1, O14681, O94502, P0C0R5, Q03327, Q08DE5, Q0V3D6, Q1E4N0, Q20799, Q21153, Q2UBI2, Q4KM77, Q4WJ38, Q568N3, Q5EB62, Q5H9E4, Q5IRJ6, Q5PQZ3, Q5R9I3, Q5ZIG3, Q61070, Q63ZR7, Q6DCE3

Diamond homologs: O14681, Q08DE5, Q4KM77, Q61070, Q20123, Q5BPL5, Q54PW9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
R-HSA-425366	7	21.5×	9e-06
SLC-mediated transmembrane transport	9	9.0×	4e-05
Organelle biogenesis and maintenance	5	5.6×	8e-03
Transport of small molecules	12	5.1×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
amino acid transport	7	27.0×	4e-06
sodium ion transmembrane transport	7	17.6×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	16
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
996579	NM_004879.5(EI24):c.742C>T (p.Pro248Ser)	Likely pathogenic

SpliceAI

1471 predictions. Top by Δscore:

Variant	Effect	Δscore
11:125572568:GA:G	donor_gain	1.0000
11:125572570:G:GG	donor_gain	1.0000
11:125577502:A:AG	acceptor_gain	1.0000
11:125577503:G:GA	acceptor_gain	1.0000
11:125577503:GTTCA:G	acceptor_gain	1.0000
11:125582340:A:AG	acceptor_gain	1.0000
11:125582341:A:G	acceptor_gain	1.0000
11:125582342:ACAGT:A	acceptor_gain	1.0000
11:125582343:C:G	acceptor_gain	1.0000
11:125582344:A:AG	acceptor_gain	1.0000
11:125582344:AGT:A	acceptor_gain	1.0000
11:125582344:AGTG:A	acceptor_gain	1.0000
11:125582345:G:GG	acceptor_gain	1.0000
11:125582345:GT:G	acceptor_gain	1.0000
11:125582345:GTG:G	acceptor_gain	1.0000
11:125582345:GTGG:G	acceptor_gain	1.0000
11:125582416:GCATA:G	donor_gain	1.0000
11:125582417:CATA:C	donor_gain	1.0000
11:125582418:ATA:A	donor_gain	1.0000
11:125582419:TA:T	donor_gain	1.0000
11:125582419:TAG:T	donor_loss	1.0000
11:125582420:AGTA:A	donor_loss	1.0000
11:125582421:G:GG	donor_gain	1.0000
11:125582421:GTAAG:G	donor_loss	1.0000
11:125582422:TAA:T	donor_loss	1.0000
11:125582423:AAGTA:A	donor_loss	1.0000
11:125583519:A:AG	acceptor_gain	1.0000
11:125583520:G:GT	acceptor_gain	1.0000
11:125583520:GT:G	acceptor_gain	1.0000
11:125583520:GTC:G	acceptor_gain	1.0000

AlphaMissense

2235 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:125575263:G:A	G15R	1.000
11:125575263:G:C	G15R	1.000
11:125575264:G:A	G15E	1.000
11:125575284:G:C	G22R	1.000
11:125578204:T:A	W130R	1.000
11:125578204:T:C	W130R	1.000
11:125578214:C:A	P133H	1.000
11:125578214:C:G	P133R	1.000
11:125578228:A:C	S138R	1.000
11:125578230:C:A	S138R	1.000
11:125578230:C:G	S138R	1.000
11:125578242:T:A	N142K	1.000
11:125578242:T:G	N142K	1.000
11:125578243:G:C	A143P	1.000
11:125578249:T:A	W145R	1.000
11:125578249:T:C	W145R	1.000
11:125578252:T:C	F146L	1.000
11:125578253:T:C	F146S	1.000
11:125578254:T:A	F146L	1.000
11:125578254:T:G	F146L	1.000
11:125578953:T:A	I149K	1.000
11:125578955:G:C	A150P	1.000
11:125578956:C:A	A150D	1.000
11:125579022:C:A	A172D	1.000
11:125579024:G:C	D173H	1.000
11:125579025:A:C	D173A	1.000
11:125579025:A:T	D173V	1.000
11:125579057:T:C	F184L	1.000
11:125579058:T:C	F184S	1.000
11:125579059:C:A	F184L	1.000

dbSNP variants (sampled 300 via entrez): RS1000003307 (11:125569685 C>A,T), RS1000094518 (11:125584911 G>C), RS1000104956 (11:125577365 G>A), RS1000211018 (11:125580987 G>C), RS1000411184 (11:125581362 T>C), RS1000479018 (11:125567867 T>C), RS1000689960 (11:125569979 T>C), RS1000695480 (11:125582263 G>C,T), RS1000884697 (11:125582996 T>A), RS1001213750 (11:125579594 G>A,T), RS1001296656 (11:125568714 A>G,T), RS1001415596 (11:125568356 C>A), RS1001754281 (11:125572787 T>C), RS1001789978 (11:125573369 C>A), RS1002115512 (11:125573680 T>A,C)

Disease associations

OMIM: gene MIM:605170 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008158_23	Body mass index	5.000000e-06
GCST90011898_79	Alanine aminotransferase levels	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067054 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.72	Kd	190.9	nM	CHEMBL5653589
6.72	ED50	190.9	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148293: Binding affinity to human EI24 incubated for 45 mins by Kinobead based pull down assay	kd	0.1909	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression	2
Resveratrol	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Copper	decreases expression, increases activity, increases expression	2
Quercetin	decreases phosphorylation, increases expression	2
Rotenone	increases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
benzo(b)fluoranthene	affects cotreatment, increases expression	1
glycidyl methacrylate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
nickel sulfate	decreases expression	1
benz(a)anthracene	affects cotreatment, increases expression	1
chrysene	affects cotreatment, increases expression	1
leptomycin B	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
octa-2,4,6-trienoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
LG 100815	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Vehicle Emissions	increases abundance, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651335	Binding	Binding affinity to human EI24 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1QU	Abcam HeLa EI24 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders