EEF1A2

Summary

EEF1A2 (eukaryotic translation elongation factor 1 alpha 2, HGNC:3192) is a protein-coding gene on chromosome 20q13.33, encoding Elongation factor 1-alpha 2 (Q05639). Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis.

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer.

Source: NCBI Gene 1917 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 32
• Clinical variants (ClinVar): 661 total — 16 pathogenic, 26 likely-pathogenic
• Phenotypes (HPO): 84
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3192
Approved symbol	EEF1A2
Name	eukaryotic translation elongation factor 1 alpha 2
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	EEF1AL, HS1
Ensembl gene	ENSG00000101210
Ensembl biotype	protein_coding
OMIM	602959
Entrez	1917

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 18 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 non_stop_decay

ENST00000217182, ENST00000298049, ENST00000642899, ENST00000643976, ENST00000645357, ENST00000645586, ENST00000646335, ENST00000675519, ENST00000706948, ENST00000706949, ENST00000850882, ENST00000850883, ENST00000913939, ENST00000961003, ENST00000961004, ENST00000961005, ENST00000961006, ENST00000961007, ENST00000961008, ENST00000961009, ENST00000961010, ENST00000961011, ENST00000961012

RefSeq mRNA: 1 — MANE Select: NM_001958 NM_001958

CCDS: CCDS13522

Canonical transcript exons

ENST00000217182 — 8 exons

Exon	Start	End
ENSE00000663460	63488918	63489152
ENSE00000663461	63490479	63490735
ENSE00000663462	63493137	63493287
ENSE00000663463	63494805	63495101
ENSE00000856590	63497620	63497834
ENSE00002475952	63495856	63496035
ENSE00003822954	63499058	63499083
ENSE00004282819	63488014	63488425

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 99.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 74.0095 / max 1242.7900, expressed in 1038 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188366	48.6253	915
188367	14.2195	701
188368	5.6818	666
188369	1.1362	439
188365	1.0487	271
188358	0.8201	242
188364	0.5519	213
188361	0.4234	150
188360	0.4081	144
188363	0.3945	161

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	99.84	gold quality
apex of heart	UBERON:0002098	99.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.77	gold quality
paraflocculus	UBERON:0005351	99.77	gold quality
endometrium epithelium	UBERON:0004811	99.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.73	gold quality
frontal pole	UBERON:0002795	99.72	gold quality
diaphragm	UBERON:0001103	99.71	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.69	gold quality
cerebellar cortex	UBERON:0002129	99.68	gold quality
cerebellar hemisphere	UBERON:0002245	99.67	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.67	gold quality
cerebellar vermis	UBERON:0004720	99.65	gold quality
cerebellum	UBERON:0002037	99.64	gold quality
cortical plate	UBERON:0005343	99.53	gold quality
right frontal lobe	UBERON:0002810	99.52	gold quality
vastus lateralis	UBERON:0001379	99.50	gold quality
right atrium auricular region	UBERON:0006631	99.49	gold quality
quadriceps femoris	UBERON:0001377	99.48	gold quality
triceps brachii	UBERON:0001509	99.46	gold quality
body of tongue	UBERON:0011876	99.45	gold quality
gluteal muscle	UBERON:0002000	99.44	gold quality
tibialis anterior	UBERON:0001385	99.42	gold quality
cardiac atrium	UBERON:0002081	99.39	gold quality
pons	UBERON:0000988	99.33	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.32	gold quality
parietal lobe	UBERON:0001872	99.30	gold quality
skeletal muscle tissue	UBERON:0001134	99.28	gold quality
postcentral gyrus	UBERON:0002581	99.28	gold quality
prefrontal cortex	UBERON:0000451	99.25	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-89	yes	208.23
E-ANND-3	yes	5.19
E-GEOD-137537	yes	4.65
E-CURD-11	no	21.85

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HIF1A, NR2F6, NR4A2, PARP1, SP1, TP63, TXK, YBX1, ZNF217

miRNA regulators (miRDB)

25 targeting EEF1A2, 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-3059-5P	99.70	69.93	2491
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-6509-3P	98.32	67.33	1343
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-6881-3P	98.04	68.24	1777
HSA-MIR-6787-5P	97.54	63.85	457
HSA-MIR-4535	97.27	65.17	469
HSA-MIR-3654	96.43	66.55	646
HSA-MIR-7704	95.30	62.35	115
HSA-MIR-663A	94.99	63.54	378
HSA-MIR-10396B-5P	94.99	63.57	358
HSA-MIR-1908-5P	94.99	63.41	352
HSA-MIR-744-5P	93.78	65.29	230
HSA-MIR-10396A-5P	93.49	65.54	172
HSA-MIR-6720-3P	91.34	60.49	67
HSA-MIR-4787-3P	89.45	70.48	40
HSA-MIR-3178	89.40	60.05	100
HSA-MIR-6825-3P	88.51	66.17	71
HSA-MIR-10394-3P	85.92	60.60	39

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• This is a putative oncogene in ovarian cancer. (PMID:12053177)
• Review. EEF1A2 is an important ovarian oncogene. The protein elongation network can activate tumorigenesis and inhibit apoptosis. (PMID:14588074)
• These results indicate that the use of cellular promoters such as those for EF-1alpha and ubiquitin C might direct prolonged gene expression in hematopoietic and mesenchymal progenitor cells. (PMID:15893736)
• eEF1A2 may have a role in cytoskeletal remodelling or apoptosis in breast neoplasms (PMID:16156888)
• Overexpression of EEF1A2 and KCIP-1 is associated with lung adenocarcinoma (PMID:16369491)
• there is a physical and functional relationship between eEF1A2 and PI4KIIIbeta (PMID:17088255)
• Regulates oncogenesis through Akt-dependent cytoskeletal remodeling. (PMID:17130842)
• The oncogenicity of eEF1A2 may be related either to its role in protein synthesis or to potential non-canonical functions. (PMID:17437010)
• The expression level of EEF1A2 correlates with cell growth but not apoptosis in hepatocellular carcinoma cell lines with different differentiation grades. (PMID:17825975)
• EEF1A2 is highly homologous and functionally similar to the EEF1A1 oncogene, and was found to be restricted only to the normal tissues of the heart, brain, and skeletal muscle (PMID:17908984)
• overall, this study does not support an associated between statin use and prostate cancer but a reduced risk cannot be ruled out. (PMID:18322813)
• Study finds that eEF1A2 stimulates formation of filopodia by increasing the cellular abundance of cytosolic and plasma membrane-bound phosphatidylinositol-4,5 bisphosphate. (PMID:18474610)
• this population-based study of individuals with incident AD, use of statins and beta-blockers was associated with delay of functional decline. (PMID:18978249)
• eEF1A2 might play an important role in pancreatic carcinogenesis, possibly by acting as a tumour oncogene. (PMID:19138673)
• created and validated comparative three-dimensional (3-D) models of eEF1A1 and eEF1A2 on the basis of the crystal structure of homologous eEF1A from yeast (PMID:19636410)
• Studies indicate that the EEF1A2 abnormal expression in cancers correlates with a poor prognosis. (PMID:19723040)
• the interaction of ZPR1 and eEF1alpha (PMID:19966453)
• EEF1A2 may play contribute to the induction or progression of some plasmacytomas and a small percentage of multiple myeloma. (PMID:20505761)
• Levels of eEF1A2 and alpha-actinin-4 mRNA appeared to be unrelated to breast tumour size, except for a significant down-regulation of alpha-actinin-4 mRNA in T3 cases. (PMID:20819441)
• The eEF1A2 likely plays an important role in mammary neoplasia and acinar development. (PMID:21851817)
• Pilot evaluation in archive prostate tissues showed the presence of EEF1A2 mRNA in near all neoplastic and perineoplastic but not in normal samples or in benign adenoma; in contrast, EEF1A1 mRNA was everywhere detectable (PMID:22095224)
• Data conclude that the interaction of p16(INK4a) with eEF1A2, and subsequent downregulation of the expression and function of eEF1A2 is a novel mechanism explaining the anti-proliferative effects of p16(INK4a). (PMID:23444377)
• a role for a RACK1/JNK/eEF1A2 complex in the quality control of newly synthesized polypeptides in response to stress (PMID:23608534)
• miR-663 and miR-744 mediate inhibition of the proto-oncogene eEF1A2 expression that results in retardation of the MCF7 cancer cells proliferation. We also observed upregulation of miR-663 and miR-744 with corresponding downregulation of eEF1A2 in resveratrol-treated MCF7 cells, suggesting that resveratrol may influence eEF1A2 expression through a miRNA-dependent pathway. (PMID:23695020)
• results provide evidence of eEF1A2 as a potential therapeutic target in the treatment of aggressive pancreatic cancer (PMID:23739844)
• The activation level of the EEF1A2/PI3K/AKT/mTOR/MDM4 axis significantly influences the survival probability of hepatocellular carcinoma patients (PMID:24285179)
• There was no significant correlation between eEF1A2 protein and mRNA expression levels. Negative immunostaining of eEF1A2 predicted for poor prognosis of NSCLC. (PMID:24510995)
• De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. (PMID:24697219)
• Our data suggests that eEF1A2 plays an important role in prostate cancer development, especially in inhibiting apoptosis. (PMID:24853801)
• Finally, a strong association between the expression of EEF1A2, phosphorylated AKT and MDM4 was observed in human HCC samples. Strong activation of the EEF1A2/PI3K/AKT/mTOR/MDM4 signaling pathway was observed in HCC patients (PMID:25394965)
• Both eEF1A1 and eEF1A2 colocalise with all eEF1B subunits, in such close proximity that they are highly likely to be in a complex. (PMID:25436608)
• Overexpression of eEF1A2 was correlated with worse outcomes in gastric cancer patients, suggesting its critical roles in the carcinogenesis of gastric cancer. (PMID:25601347)
• Our results provide novel information on the intracellular distribution and interaction of eEF1A isoforms. (PMID:26212729)
• In both cases, a de novo recurrent heterozygous mutation in EEF1A2 [c.364G>A (p.E122K)] was identified by whole-exome sequencing. CONCLUSION: This report provides clinical data on epileptic encephalopathy in patients with EEF1A2 mutation. Continuous high-voltage delta activity seen over both parietal areas may be a unique manifestation of EEF1A2 mutation. (PMID:26682508)
• Differential gene expression analysis demonstrated significant upregulation of PDZK1IP1, EEF1A2 and RPL41 (ENSG00000279483) genes in the intrahepatic cholangiocarcinoma samples when compared with the matched paratumor samples. (PMID:27082702)
• eEF1A2 is highly expressed in hepatocellular carcinoma. Its silencing significantly decreases HCC tumorigenesis, likely by inhibiting PI3K/Akt/NF-kappaB signaling. (PMID:27122673)
• We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global developmental delay, failure to thrive, dilated cardiomyopathy and epilepsy, ultimately leading to death in early childhood. EEF1A2 appears to be critical for normal heart function in humans, and its deficiency results in clinical abnormalities in neurologic function as well as in skeletal and cardiac muscle defects (PMID:28911200)
• The overexpression of EEF1A2 is a frequent event in localized prostate cancer and is associated with histopathology features and a shorter biochemical recurrence-free survival. Due to its independence from serum PSA levels, EEF1A2 could serve as valuable biomarker in risk-stratification of localized prostate cancer (PMID:28923030)
• EEF1A2 expression is associated with colorectal cancer metastasis. (PMID:30132996)
• The central functional component of the complex is eEF1A, which occurs as two independently encoded variants with reciprocal expression patterns: whilst eEF1A1 is widely expressed, eEF1A2 is found only in neurons and muscle. (PMID:30370994)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	eef1a2	ENSDARG00000006838
mus_musculus	Eef1a2	ENSMUSG00000016349
rattus_norvegicus	Eef1a2	ENSRNOG00000072254
drosophila_melanogaster	mEFTu2	FBGN0033184
drosophila_melanogaster	eIF2gamma	FBGN0263740
caenorhabditis_elegans	tufm-2	WBGENE00007001
caenorhabditis_elegans	eif-2gamma	WBGENE00021466

Paralogs (18): MTIF2 (ENSG00000085760), GTPBP1 (ENSG00000100226), GSPT1 (ENSG00000103342), EFTUD2 (ENSG00000108883), HBS1L (ENSG00000112339), EIF2S3 (ENSG00000130741), EEFSEC (ENSG00000132394), EFL1 (ENSG00000140598), GUF1 (ENSG00000151806), EEF1A1 (ENSG00000156508), EIF5B (ENSG00000158417), GFM2 (ENSG00000164347), EEF2 (ENSG00000167658), GFM1 (ENSG00000168827), GTPBP2 (ENSG00000172432), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)

Protein

Protein identifiers

Elongation factor 1-alpha 2 — Q05639 (reviewed: Q05639)

Alternative names: Eukaryotic elongation factor 1 A-2, Statin-S1

All UniProt accessions (8): Q05639, A0A2R8Y488, A0A2R8Y660, A0A2R8YDN5, A0A2U3TZH3, A0A6Q8PFK6, A0A9L9PXK0, A0A9L9PYI8

UniProt curated annotations — full annotation on UniProt →

Function. Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promotes GTP hydrolysis, releasing the aa-tRNA from EEF1A1 and allowing its accommodation into the ribosome. The growing protein chain is subsequently transferred from the P-site peptidyl tRNA to the A-site aa-tRNA, extending it by one amino acid through ribosome-catalyzed peptide bond formation.

Subunit / interactions. Homodimer; arranged in a ‘head to tail’ dimer configuration.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Brain, heart, and skeletal muscle.

Post-translational modifications. Trimethylated at Lys-165 by EEF1AKMT3. Mono-, di-, and trimethylated at Lys-36 by EEF1AKMT4; trimethylated form is predominant. Methylation by EEF1AKMT4 contributes to the fine-tuning of translation rates for a subset of tRNAs. Trimethylated at the N-terminus by METTL13. Mono- and dimethylated at Lys-55 by METTL13; dimethylated form is predominant.

Disease relevance. Developmental and epileptic encephalopathy 33 (DEE33) [MIM:616409] 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. The disease is caused by variants affecting the gene represented in this entry. Intellectual developmental disorder, autosomal dominant 38 (MRD38) [MIM:616393] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by narciclasine.

Similarity. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.

RefSeq proteins (1): NP_001949* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000795	T_Tr_GTP-bd_dom	Domain
IPR004161	EFTu-like_2	Domain
IPR004539	Transl_elong_EF1A_euk/arc	Family
IPR009000	Transl_B-barrel_sf	Homologous_superfamily
IPR009001	Transl_elong_EF1A/Init_IF2_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR031157	G_TR_CS	Conserved_site
IPR050100	TRAFAC_GTPase_members	Family
IPR054696	GTP-eEF1A_C	Domain

Pfam: PF00009, PF03144, PF22594

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (91 total): strand 27, modified residue 17, binding site 13, helix 11, turn 7, region of interest 6, sequence variant 4, mutagenesis site 2, initiator methionine 1, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3C5J	X-RAY DIFFRACTION	1.8
8B6Z	ELECTRON MICROSCOPY	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q05639-F1	88.70	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.

Ligand- & substrate-binding residues (13): 17; 18; 19; 20; 21; 22; 153; 154; 156; 194; 195; 196 …

Post-translational modifications (17): 2, 36, 36, 36, 55, 55, 79, 163, 165, 165, 165, 179, 224, 239, 301, 374, 439

Mutagenesis-validated functional residues (2):

Position	Phenotype
36	abolishes eef1akmt4-mediated methylation.
165	abolishes methylation by eef1akmt3.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-156842	Eukaryotic Translation Elongation

MSigDB gene sets: 349 (showing top): AP1_01, GOBP_REGULATION_OF_AUTOPHAGY, MODY_HIPPOCAMPUS_POSTNATAL, GOBP_REGULATION_OF_PHOSPHORYLATION, GOCC_VACUOLAR_MEMBRANE, YANG_BREAST_CANCER_ESR1_BULK_UP, GOZGIT_ESR1_TARGETS_DN, MODULE_150, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, TGACCTY_ERR1_Q2, MODULE_149, GGGTGGRR_PAX4_03, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, GOBP_TRANSLATION

GO Biological Process (5): translation (GO:0006412), translational elongation (GO:0006414), positive regulation of apoptotic process (GO:0043065), positive regulation of lipid kinase activity (GO:0090218), regulation of chaperone-mediated autophagy (GO:1904714)

GO Molecular Function (9): translation elongation factor activity (GO:0003746), GTPase activity (GO:0003924), GTP binding (GO:0005525), translation factor activity, RNA binding (GO:0008135), protein kinase binding (GO:0019901), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (7): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), eukaryotic translation elongation factor 1 complex (GO:0005853), synapse (GO:0045202), cytoplasmic side of lysosomal membrane (GO:0098574), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Translation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational elongation	2
macromolecule biosynthetic process	2
translation	2
translation factor activity	2
cellular anatomical structure	2
cytoplasm	2
peptidyltransferase activity	1
translational initiation	1
translational termination	1
protein metabolic process	1
protein biosynthetic process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
lipid kinase activity	1
positive regulation of kinase activity	1
regulation of lipid kinase activity	1
positive regulation of lipid metabolic process	1
regulation of autophagy	1
regulation of protein catabolic process	1
chaperone-mediated autophagy	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
RNA binding	1
kinase binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
protein-containing complex	1
cell junction	1
lysosomal membrane	1
cytoplasmic side of membrane	1
endomembrane system	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

279 interactions, top by confidence:

A	B	Type	Score
HEXIM1	CCNT1	psi-mi:“MI:0914”(association)	0.930
ABTB1	EEF1A2	psi-mi:“MI:0915”(physical association)	0.910
EEF1A2	ABTB1	psi-mi:“MI:0915”(physical association)	0.910
DBF4	CDC7	psi-mi:“MI:0914”(association)	0.890
EEF1G	EEF1B2	psi-mi:“MI:0914”(association)	0.890
EEF1A2	TTLL12	psi-mi:“MI:0915”(physical association)	0.800
HOMER1	TRAF5	psi-mi:“MI:0914”(association)	0.740
EEF1A2	EEF1B2	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
N	EEF1A2	psi-mi:“MI:0915”(physical association)	0.690
N	EEF1A2	psi-mi:“MI:0407”(direct interaction)	0.690
EEF1A2	N	psi-mi:“MI:0914”(association)	0.690
EEF1A2	N	psi-mi:“MI:0915”(physical association)	0.690
GYPA	TCAF2	psi-mi:“MI:0914”(association)	0.640
TBXAS1	EEF1A2	psi-mi:“MI:0915”(physical association)	0.590
SLC13A5	EEF1A2	psi-mi:“MI:0915”(physical association)	0.590

BioGRID (466): ABTB1 (Two-hybrid), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS)

ESM2 similar proteins: A0B7D6, A0RUM4, A2STF0, A3CTG3, A4FWE9, A6UQ14, A6UV43, A6VGV6, A7I656, A8GVB2, A8MAJ1, A9A9U3, B3PMU1, B6YVG2, B8GIQ3, C6A4R7, O27132, O29325, P07810, P0CT31, P0CT32, P13927, P17197, P18906, P19486, P22679, P23568, P31018, P42479, P62631, P62632, P90519, Q04634, Q05639, Q0W8G2, Q12WT3, Q1RHL9, Q2FRI3, Q32PH8, Q464Z4

Diamond homologs: A0B7D6, A0RUM4, A1RRJ3, A1RXW9, A2BN41, A2Q0Z0, A2STF0, A3CTG3, A3DMQ1, A3MV69, A4FWE9, A4WKK8, A4YCR6, A5ULM5, A6UQ14, A6UV43, A6VGV6, A7I656, A8ABM5, A9A9U3, B0R8C3, B6YVG2, B8GIQ3, C5A5P4, C6A4R7, O27132, O29325, O59153, O64937, O93729, P02993, P05303, P07810, P08736, P0CT31, P0CT32, P10126, P13549, P16018, P17196

SIGNOR signaling

28 interactions.

A	Effect	B	Mechanism
N	“down-regulates activity”	EEF1A2	binding
“EEF1B complex”	“up-regulates activity”	EEF1A2	“guanine nucleotide exchange factor”
EEF1A2	up-regulates	Translational_elongation
EEF1A2	up-regulates	Lys-tRNA(Lys)	relocalization
EEF1A2	up-regulates	Ala-tRNA(Ala)	relocalization
EEF1A2	up-regulates	Met-tRNA(Met)	relocalization
EEF1A2	up-regulates	Arg-tRNA(Arg)	relocalization
EEF1A2	up-regulates	Asn-tRNA(Asn)	relocalization
EEF1A2	up-regulates	Asp-tRNA(Asp)	relocalization
EEF1A2	up-regulates	Cys-tRNA(Cys)	relocalization
EEF1A2	up-regulates	Glu-tRNA(Glu)	relocalization
EEF1A2	up-regulates	Gln-tRNA(Gln)	relocalization
EEF1A2	up-regulates	His-tRNA(His)	relocalization
EEF1A2	up-regulates	Ile-tRNA(Ile)	relocalization
EEF1A2	up-regulates	Leu-tRNA(Leu)	relocalization
EEF1A2	up-regulates	Pro-tRNA(Pro)	relocalization
EEF1A2	up-regulates	Ser-tRNA(Ser)	relocalization
EEF1A2	up-regulates	Thr-tRNA(Thr)	relocalization
EEF1A2	up-regulates	Trp-tRNA(Trp)	relocalization
EEF1A2	up-regulates	Tyr-tRNA(Tyr)	relocalization
EEF1A2	up-regulates	Val-tRNA(Val)	relocalization
EEF1A2	up-regulates	Phe-tRNA(Phe)	relocalization
EEF1A2	up-regulates	Gly-tRNA(Gly)	relocalization
MAPK8	“down-regulates quantity by destabilization”	EEF1A2	phosphorylation
PRKCB	“up-regulates activity”	EEF1A2	phosphorylation
BRAF	“down-regulates quantity by destabilization”	EEF1A2	phosphorylation
RAF1	“down-regulates quantity by destabilization”	EEF1A2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 216 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
RIP-mediated NFkB activation via ZBP1	6	28.4×	9e-06
TRAF6 mediated NF-kB activation	8	25.7×	3e-07
MAP3K8 (TPL2)-dependent MAPK1/3 activation	5	25.1×	2e-04
Regulation of NF-kappa B signaling	5	22.3×	2e-04
TICAM1, RIP1-mediated IKK complex recruitment	5	21.2×	2e-04
IKK complex recruitment mediated by RIP1	5	17.5×	4e-04
TAK1-dependent IKK and NF-kappa-B activation	7	14.8×	7e-05
TNFR1-induced NF-kappa-B signaling pathway	6	14.2×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
non-canonical NF-kappaB signal transduction	7	30.7×	2e-06
canonical NF-kappaB signal transduction	8	15.3×	3e-05
tumor necrosis factor-mediated signaling pathway	8	13.8×	3e-05
intrinsic apoptotic signaling pathway	6	11.2×	2e-03
obsolete positive regulation of NF-kappaB transcription factor activity	9	9.6×	9e-05
G1/S transition of mitotic cell cycle	9	9.4×	9e-05
autophagosome assembly	7	8.2×	3e-03
positive regulation of canonical NF-kappaB signal transduction	15	5.7×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	26
Uncertain significance	201
Likely benign	309
Benign	52

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
100782	NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)	Pathogenic
1018904	NM_001958.5(EEF1A2):c.274G>A (p.Ala92Thr)	Pathogenic
1459521	NM_001958.5(EEF1A2):c.1304T>C (p.Val435Ala)	Pathogenic
2424102	NC_000020.10:g.(?62075992)(62324656_?)del	Pathogenic
2664000	NM_001958.5(EEF1A2):c.286C>T (p.Arg96Cys)	Pathogenic
279803	NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)	Pathogenic
3248236	NC_000020.10:g.(?62044783)(62159505_?)del	Pathogenic
3248237	NC_000020.10:g.(?62069958)(62129116_?)del	Pathogenic
3375739	NM_001958.5(EEF1A2):c.1145G>A (p.Arg382His)	Pathogenic
442027	GRCh37/hg19 20q13.33(chr20:62090403-62318983)x1	Pathogenic
542651	NM_001958.5(EEF1A2):c.205C>T (p.Arg69Cys)	Pathogenic
588898	NM_001958.5(EEF1A2):c.424A>G (p.Thr142Ala)	Pathogenic
58979	GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1	Pathogenic
646958	NC_000020.11:g.(?63428347)(63497783_?)del	Pathogenic
830560	NC_000020.11:g.(?63472148)(63497783_?)del	Pathogenic
833079	NC_000020.11:g.(?63406624)(63528152_?)del	Pathogenic
1176121	NM_001958.5(EEF1A2):c.376G>C (p.Gly126Arg)	Likely pathogenic
1326330	GRCh37/hg19 20q13.33(chr20:62069977-62129187)	Likely pathogenic
1474102	NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly)	Likely pathogenic
1787343	NM_001958.5(EEF1A2):c.1084G>T (p.Asp362Tyr)	Likely pathogenic
1803024	NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)	Likely pathogenic
2499558	NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)	Likely pathogenic
2572745	NM_001958.5(EEF1A2):c.368T>G (p.Phe123Cys)	Likely pathogenic
2663997	NM_001958.5(EEF1A2):c.287G>A (p.Arg96His)	Likely pathogenic
2663998	NM_001958.5(EEF1A2):c.1066G>A (p.Gly356Ser)	Likely pathogenic
2663999	NM_001958.5(EEF1A2):c.1259C>T (p.Pro420Leu)	Likely pathogenic
2664001	NM_001958.5(EEF1A2):c.311C>G (p.Thr104Arg)	Likely pathogenic
3250846	NM_001958.5(EEF1A2):c.199C>T (p.Arg67Cys)	Likely pathogenic
3775659	NM_001958.5(EEF1A2):c.797G>A (p.Arg266Gln)	Likely pathogenic
383531	NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)	Likely pathogenic

SpliceAI

1235 predictions. Top by Δscore:

Variant	Effect	Δscore
20:63488930:A:AC	donor_gain	1.0000
20:63488931:C:CC	donor_gain	1.0000
20:63488961:T:A	donor_gain	1.0000
20:63489150:GACC:G	acceptor_loss	1.0000
20:63489152:CCT:C	acceptor_loss	1.0000
20:63489153:C:CC	acceptor_gain	1.0000
20:63489154:T:G	acceptor_loss	1.0000
20:63490494:AGCAG:A	donor_gain	1.0000
20:63490501:T:TA	donor_gain	1.0000
20:63493133:TCACC:T	donor_loss	1.0000
20:63493134:CAC:C	donor_loss	1.0000
20:63493154:T:TA	donor_gain	1.0000
20:63493283:GGCAT:G	acceptor_gain	1.0000
20:63493284:GCAT:G	acceptor_gain	1.0000
20:63493284:GCATC:G	acceptor_gain	1.0000
20:63493285:CAT:C	acceptor_gain	1.0000
20:63493285:CATC:C	acceptor_gain	1.0000
20:63493285:CATCT:C	acceptor_gain	1.0000
20:63493286:AT:A	acceptor_gain	1.0000
20:63493286:ATC:A	acceptor_loss	1.0000
20:63493286:ATCTG:A	acceptor_gain	1.0000
20:63493287:TCTG:T	acceptor_gain	1.0000
20:63493288:C:CC	acceptor_gain	1.0000
20:63493289:T:C	acceptor_loss	1.0000
20:63493294:C:CT	acceptor_gain	1.0000
20:63493294:C:T	acceptor_gain	1.0000
20:63493295:A:T	acceptor_gain	1.0000
20:63494800:CTCA:C	donor_loss	1.0000
20:63494801:TCA:T	donor_loss	1.0000
20:63494802:CAC:C	donor_loss	1.0000

AlphaMissense

3043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:63488377:A:T	I438N	1.000
20:63488380:A:T	V437D	1.000
20:63488383:C:A	G436V	1.000
20:63488383:C:T	G436D	1.000
20:63488384:C:A	G436C	1.000
20:63488384:C:G	G436R	1.000
20:63488384:C:T	G436S	1.000
20:63488386:A:T	V435E	1.000
20:63488389:G:T	A434D	1.000
20:63488390:C:G	A434P	1.000
20:63488392:A:T	V433E	1.000
20:63488407:T:A	D428V	1.000
20:63488407:T:C	D428G	1.000
20:63488407:T:G	D428A	1.000
20:63488408:C:G	D428H	1.000
20:63488410:C:G	R427P	1.000
20:63488410:C:T	R427H	1.000
20:63488411:G:A	R427C	1.000
20:63488411:G:T	R427S	1.000
20:63488413:A:T	V426E	1.000
20:63488416:G:T	A425D	1.000
20:63488418:G:C	F424L	1.000
20:63488418:G:T	F424L	1.000
20:63488419:A:G	F424S	1.000
20:63488420:A:G	F424L	1.000
20:63488422:C:G	R423P	1.000
20:63488423:G:T	R423S	1.000
20:63488425:C:A	G422V	1.000
20:63488425:C:T	G422D	1.000
20:63488918:C:A	G422C	1.000

dbSNP variants (sampled 300 via entrez): RS1000189205 (20:63501042 G>T), RS1000520617 (20:63500025 C>G), RS1000703611 (20:63494939 T>C), RS1000757773 (20:63500322 A>G), RS1000842288 (20:63499323 A>G), RS1001606921 (20:63495644 C>T), RS1001986402 (20:63499817 C>T), RS1001996174 (20:63499498 G>A), RS1002364852 (20:63496641 G>A,T), RS1002435150 (20:63496431 G>A), RS1002643623 (20:63489321 C>T), RS1003205925 (20:63499283 G>C,T), RS1003298338 (20:63494480 G>A), RS1003579392 (20:63493600 C>T), RS1003667662 (20:63499025 G>A)

Disease associations

OMIM: gene MIM:602959 | disease phenotypes: MIM:616409, MIM:616393, MIM:121200, MIM:613720, MIM:209850, MIM:615190, MIM:616373, MIM:614409

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	Autosomal dominant
developmental and epileptic encephalopathy, 33	Strong	Autosomal dominant
autosomal dominant non-syndromic intellectual disability	Supportive	Autosomal dominant
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Mondo (16): developmental and epileptic encephalopathy, 33 (MONDO:0014625), intellectual disability (MONDO:0001071), intellectual disability, autosomal dominant 38 (MONDO:0014617), complex neurodevelopmental disorder (MONDO:0100038), developmental and epileptic encephalopathy (MONDO:0100620), seizures, benign familial neonatal, 1 (MONDO:0007365), developmental and epileptic encephalopathy, 7 (MONDO:0013387), autism (MONDO:0005260), neurodevelopmental disorder (MONDO:0700092), dyskeratosis congenita, autosomal recessive 5 (MONDO:0014076), pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (MONDO:0014613), vascular disorder (MONDO:0005385), congenital heart disease (MONDO:0005453), hereditary spastic paraplegia 46 (MONDO:0013737), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)

Orphanet (7): Non-specific early-onset epileptic encephalopathy (Orphanet:442835), Non-specific syndromic intellectual disability (Orphanet:528084), Self-limited neonatal epilepsy (Orphanet:1949), KCNQ2-related developmental and epileptic encephalopathy (Orphanet:439218), Idiopathic pulmonary fibrosis (Orphanet:2032), Autosomal recessive spastic paraplegia type 46 (Orphanet:320391), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

84 total (30 of 84 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000218	High palate
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST001942_22	Prostate cancer	4.000000e-16
GCST004521_202	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST008103_74	Bipolar disorder	8.000000e-07
GCST008115_28	Bipolar I disorder	3.000000e-07
GCST010796_1660	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_1661	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-10
GCST010796_1662	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-09
GCST010796_1663	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_1664	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_1665	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_1666	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_1667	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-11
GCST010796_1668	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_1669	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-11
GCST010796_1670	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1671	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_1672	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_1673	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_1674	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_1675	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-10
GCST010796_551	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_552	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_553	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_554	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_555	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_556	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_557	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_558	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_559	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_560	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009963	bipolar I disorder
EFO:0004327	electrocardiography

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
D014652	Vascular Diseases	C14.907
C567743	Epilepsy, Benign Neonatal, 1, And-Or Myokymia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1795122 (SINGLE PROTEIN)

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
8.61	Kd	2.43	nM	CHEMBL1802815
8.34	Kd	4.54	nM	CHEMBL1802973
8.31	Kd	4.89	nM	CHEMBL1802814
6.38	Kd	412.4	nM	CHEMBL5653589
6.38	ED50	412.4	nM	CHEMBL5653589

PubChem BioAssay actives

4 with measured affinity, of 11 total; 4 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
N-[(2S)-1-amino-1-oxo-3-phenylpropan-2-yl]-4-[3-benzyl-2-(2-methylpropylamino)-8-oxopyrano[3,2-f]benzimidazol-6-yl]benzamide	606724: Binding affinity to eEF1A2 expressed in human MDA-MB-231 cells using 1 uM biotinylated compound immobilized on streptavidin sensor chip by surface plasmon resonance method	kd	0.0024	uM
N-[(2S)-1-amino-4-methyl-1-oxopentan-2-yl]-4-[7-[[(1R)-1-cyclohexylethyl]amino]-6-nitro-4-oxochromen-2-yl]benzamide	606724: Binding affinity to eEF1A2 expressed in human MDA-MB-231 cells using 1 uM biotinylated compound immobilized on streptavidin sensor chip by surface plasmon resonance method	kd	0.0045	uM
N-[(2S)-1-amino-4-methyl-1-oxopentan-2-yl]-4-[3-[(1R)-1-cyclohexylethyl]-2-(4-methoxyanilino)-8-oxopyrano[3,2-f]benzimidazol-6-yl]benzamide	606724: Binding affinity to eEF1A2 expressed in human MDA-MB-231 cells using 1 uM biotinylated compound immobilized on streptavidin sensor chip by surface plasmon resonance method	kd	0.0049	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147936: Binding affinity to human EEF1A2 incubated for 45 mins by Kinobead based pull down assay	kd	0.4124	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	6
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	5
sodium arsenite	decreases expression, increases expression	4
Tetrachlorodibenzodioxin	affects expression, increases expression	4
Tretinoin	affects expression, affects reaction, increases expression, decreases expression	4
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	increases expression, increases reaction, decreases expression	2
entinostat	increases expression, affects cotreatment	2
Decitabine	affects expression, increases expression	2
Cadmium	increases expression, increases abundance	2
Cisplatin	affects expression, decreases expression	2
1-Methyl-4-phenylpyridinium	affects cleavage, affects reaction, increases expression, increases reaction, increases phosphorylation (+4 more)	2
Cyclosporine	increases expression, decreases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
sodium arsenate	increases expression	1
tetrahydropalmatine	decreases expression	1
arsenite	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
butylidenephthalide	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
pentanal	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
candoxin	decreases expression	1
abrine	increases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1805281	Binding	Binding affinity to eEF1A2 expressed in human MDA-MB-231 cells using 1 uM biotinylated compound immobilized on streptavidin sensor chip by surface plasmon resonance method	Novel flavonoids with antiproliferative activities against breast cancer cells. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7P6	Ubigene A-549 EEF1A2 KO	Cancer cell line	Male
CVCL_SL44	HAP1 EEF1A2 (-) 1	Cancer cell line	Male
CVCL_SL45	HAP1 EEF1A2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

299 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
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
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