EEF1B2
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Summary
EEF1B2 (eukaryotic translation elongation factor 1 beta 2, HGNC:3208) is a protein-coding gene on chromosome 2q33.3, encoding Elongation factor 1-beta (P24534). Catalytic subunit of the guanine nucleotide exchange factor (GEF) (eEF1B subcomplex) of the eukaryotic elongation factor 1 complex (eEF1). It is a common-essential gene (DepMap: required in 97.4% of cancer cell lines).
This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5’ UTR.
Source: NCBI Gene 1933 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 42 total — 3 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 97.4% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001959
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3208 |
| Approved symbol | EEF1B2 |
| Name | eukaryotic translation elongation factor 1 beta 2 |
| Location | 2q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000114942 |
| Ensembl biotype | protein_coding |
| OMIM | 600655 |
| Entrez | 1933 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 18 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron
ENST00000236957, ENST00000392222, ENST00000415904, ENST00000429769, ENST00000435123, ENST00000445505, ENST00000455150, ENST00000460760, ENST00000479587, ENST00000482103, ENST00000881936, ENST00000881937, ENST00000881938, ENST00000881939, ENST00000881940, ENST00000924252, ENST00000924253, ENST00000924254, ENST00000924255, ENST00000924256, ENST00000924257, ENST00000924258, ENST00000924259, ENST00000924260, ENST00000955596
RefSeq mRNA: 3 — MANE Select: NM_001959
NM_001037663, NM_001959, NM_021121
CCDS: CCDS2367
Canonical transcript exons
ENST00000392222 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000784964 | 206160588 | 206160710 |
| ENSE00001511145 | 206159895 | 206160059 |
| ENSE00003490949 | 206162729 | 206162928 |
| ENSE00003503937 | 206162489 | 206162614 |
| ENSE00003526150 | 206161346 | 206161472 |
| ENSE00003596204 | 206162038 | 206162104 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 99.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 353.5572 / max 3035.4350, expressed in 1827 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24823 | 294.4619 | 1826 |
| 24822 | 48.9465 | 1817 |
| 202545 | 8.5642 | 1673 |
| 202546 | 1.5846 | 845 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 99.75 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.74 | gold quality |
| left ovary | UBERON:0002119 | 99.69 | gold quality |
| cortical plate | UBERON:0005343 | 99.69 | gold quality |
| ovary | UBERON:0000992 | 99.68 | gold quality |
| pancreas | UBERON:0001264 | 99.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.65 | gold quality |
| lymph node | UBERON:0000029 | 99.65 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.65 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.65 | gold quality |
| right ovary | UBERON:0002118 | 99.65 | gold quality |
| endocervix | UBERON:0000458 | 99.64 | gold quality |
| granulocyte | CL:0000094 | 99.63 | gold quality |
| zone of skin | UBERON:0000014 | 99.63 | gold quality |
| body of uterus | UBERON:0009853 | 99.62 | gold quality |
| skin of leg | UBERON:0001511 | 99.61 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.61 | gold quality |
| bone marrow | UBERON:0002371 | 99.60 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 99.60 | gold quality |
| fallopian tube | UBERON:0003889 | 99.60 | gold quality |
| ectocervix | UBERON:0012249 | 99.60 | gold quality |
| vagina | UBERON:0000996 | 99.59 | gold quality |
| mammary gland | UBERON:0001911 | 99.59 | gold quality |
| spleen | UBERON:0002106 | 99.59 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.59 | gold quality |
| omental fat pad | UBERON:0010414 | 99.59 | gold quality |
| bone marrow cell | CL:0002092 | 99.58 | gold quality |
| myometrium | UBERON:0001296 | 99.58 | gold quality |
| duodenum | UBERON:0002114 | 99.58 | gold quality |
| esophagus | UBERON:0001043 | 99.57 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-89232 | yes | 4690.22 |
| E-GEOD-81547 | yes | 20.00 |
| E-MTAB-9067 | yes | 11.09 |
| E-MTAB-9801 | yes | 8.62 |
| E-MTAB-6678 | yes | 4.94 |
| E-MTAB-10596 | no | 2585.73 |
| E-ANND-5 | no | 699.80 |
| E-ENAD-27 | no | 6.56 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.4% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 9)
- TCTP preferentially stabilized the GDP form of eEF1A, and, furthermore, impaired the GDP exchange reaction promoted by eEF1Bbeta. (PMID:14623968)
- Results indicate an evolutionary lineage of translation initiation factor eIF2alpha/gamma from the functionally related elongation factor eEF1Balpha/eEF1A complex. (PMID:15341733)
- Cathepsin D and eEF1 are promising markers for the detection of cellular senescence induced by a variety of treatments. (PMID:19487283)
- 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)
- It has been postulated that the N-terminus region of EF1beta may be responsible for its dimerization and the C-terminus region of this protein modulates the formation of an ordered EF1beta-gamma oligomer, a structure that may be essential in the elongation step of eukaryotic protein biosynthesis. (PMID:29572982)
- high eEF1Balpha expression is associated with poor overall survival and may serve as an independent prognostic factor of gastric cancer. (PMID:30572058)
- the protein-binding domain of eEF1Bbeta shows flexible spatial organization which may be needed for interaction with eEF1Bgamma or other protein partners. (PMID:30590147)
- New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability. (PMID:31845318)
- Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2. (PMID:34420305)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eef1b2 | ENSDARG00000044521 |
| mus_musculus | Eef1b2 | ENSMUSG00000025967 |
| rattus_norvegicus | AABR07006688.2 | ENSRNOG00000031628 |
| drosophila_melanogaster | eEF1beta | FBGN0028737 |
| drosophila_melanogaster | eEF1delta | FBGN0032198 |
| caenorhabditis_elegans | WBGENE00018846 |
Paralogs (2): EEF1D (ENSG00000104529), EFCC1 (ENSG00000114654)
Protein
Protein identifiers
Elongation factor 1-beta — P24534 (reviewed: P24534)
Alternative names: eEF-1B alpha
All UniProt accessions (5): P24534, C9JZW3, F2Z2G2, F8WF65, F8WFC9
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic subunit of the guanine nucleotide exchange factor (GEF) (eEF1B subcomplex) of the eukaryotic elongation factor 1 complex (eEF1). Stimulates the exchange of GDP for GTP on elongation factor 1A (eEF1A), probably by displacing GDP from the nucleotide binding pocket in eEF1A.
Subunit / interactions. EF-1 is composed of 4 subunits: alpha, beta (alpha subunit of the eEF1B subcomplex), delta (beta subunit of the eEF1B subcomplex), and gamma (gamma subunit of the eEF1B subcomplex). Interacts with elongation factor EEF1A1.
Post-translational modifications. Phosphorylation affects the GDP/GTP exchange rate.
Induction. By homocysteine (HC), may mediate accelerated synthesis of free thiol-containing proteins in response to HC-induced oxidative stress.
Similarity. Belongs to the EF-1-beta/EF-1-delta family.
RefSeq proteins (3): NP_001032752, NP_001950, NP_066944 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001326 | Transl_elong_EF1B_B/D_CS | Conserved_site |
| IPR014038 | EF1B_bsu/dsu_GNE | Domain |
| IPR014717 | Transl_elong_EF1B/ribsomal_bS6 | Homologous_superfamily |
| IPR018940 | EF-1_beta_acid_region_euk | Domain |
| IPR036219 | eEF-1beta-like_sf | Homologous_superfamily |
| IPR036282 | Glutathione-S-Trfase_C_sf | Homologous_superfamily |
| IPR049720 | EF1B_bsu/dsu | Family |
Pfam: PF00736, PF10587
UniProt features (30 total): modified residue 8, helix 7, strand 7, turn 2, initiator methionine 1, chain 1, cross-link 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5DQS | X-RAY DIFFRACTION | 2.1 |
| 1B64 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P24534-F1 | 77.83 | 0.17 |
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 (9): 95, 106, 174, 147, 7, 8, 42, 88, 93
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-156842 | Eukaryotic Translation Elongation |
MSigDB gene sets: 284 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_RESPONSE_TO_ETHANOL, HORIUCHI_WTAP_TARGETS_DN, SWEET_KRAS_ONCOGENIC_SIGNATURE, GCM_MSN, MODULE_151, GCM_NPM1, MODULE_150, HSIAO_HOUSEKEEPING_GENES, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, MODULE_149, COUP_01
GO Biological Process (3): translational elongation (GO:0006414), response to ethanol (GO:0045471), translation (GO:0006412)
GO Molecular Function (3): translation elongation factor activity (GO:0003746), guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), eukaryotic translation elongation factor 1 complex (GO:0005853), endoplasmic reticulum (GO:0005783), protein-containing complex (GO:0032991)
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 |
|---|---|
| cytoplasm | 3 |
| macromolecule biosynthetic process | 2 |
| translational elongation | 2 |
| cellular anatomical structure | 2 |
| translation | 1 |
| response to alcohol | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational termination | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| translation factor activity | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| protein-containing complex | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
3257 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EEF1B2 | EEF1G | P26641 | 999 |
| EEF1B2 | EEF1A1 | P04719 | 998 |
| EEF1B2 | EEF1D | P29692 | 982 |
| EEF1B2 | EEF1A2 | P54266 | 907 |
| EEF1B2 | EEF2 | P13639 | 757 |
| EEF1B2 | TSFM | P43897 | 695 |
| EEF1B2 | VARS1 | P26640 | 662 |
| EEF1B2 | HPGDS | O60760 | 646 |
| EEF1B2 | EIF4A1 | P04765 | 643 |
| EEF1B2 | EIF4A2 | Q14240 | 642 |
| EEF1B2 | EEF1E1 | O43324 | 642 |
| EEF1B2 | KTN1 | Q86UP2 | 642 |
| EEF1B2 | VARS2 | Q5ST30 | 551 |
| EEF1B2 | RABIF | P47224 | 541 |
| EEF1B2 | EIF3E | P60228 | 538 |
IntAct
183 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EEF1B2 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.890 |
| EEF1G | EEF1B2 | psi-mi:“MI:0914”(association) | 0.890 |
| EEF1A2 | EEF1B2 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| EEF1B2 | HTT | psi-mi:“MI:0915”(physical association) | 0.670 |
| EEF1G | EEF1B2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EEF1B2 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| EEF1B2 | SPRYD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DLD | PDHB | psi-mi:“MI:0914”(association) | 0.530 |
| ATF3 | MYL6B | psi-mi:“MI:0914”(association) | 0.530 |
| MLLT6 | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| EEF1G | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| EEF1A1 | ZPR1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (296): EEF1B2 (Affinity Capture-MS), EEF1G (Two-hybrid), EEF1B2 (Affinity Capture-RNA), EEF1B2 (Affinity Capture-RNA), EEF1B2 (Affinity Capture-RNA), EEF1B2 (Affinity Capture-MS), EEF1B2 (Affinity Capture-MS), EEF1B2 (Affinity Capture-MS), EEF1B2 (Affinity Capture-MS), EEF1G (Two-hybrid), AHNAK (Co-fractionation), ATL3 (Co-fractionation), EEF1A1 (Co-fractionation), EEF1B2 (Co-fractionation), EEF1B2 (Co-fractionation)
ESM2 similar proteins: A0A3L6DPG1, A4QVI3, A6IPG1, B0BN85, B4JXU2, B5XEX1, C0HBG1, C1BH56, C3YFB4, F4HQD4, O22785, O42766, O70251, P15705, P17624, P23231, P24534, P26446, P29412, P34826, P35189, Q08446, Q0JL44, Q11118, Q23280, Q2KIK0, Q3T168, Q43468, Q4R4P3, Q4SK88, Q4WTC0, Q5E983, Q5R6Z8, Q5RHR0, Q5ZIN1, Q6AYK6, Q6AZB3, Q6AZN0, Q7Q9C0, Q94BR4
Diamond homologs: A5D989, A6IPG1, O70251, O74173, O81918, O96827, P12262, P24534, P29412, P29522, P29545, P29546, P29692, P29693, P30151, P32192, P32471, P34460, P34826, P34827, P48006, P53787, P57776, P78590, P93447, Q40680, Q40682, Q4R3D4, Q5E983, Q658K8, Q68FR9, Q69BZ7, Q6DET9, Q717R8, Q84WM9, Q9GRF8, Q9SCX3, Q9SI20, Q9U2H9, Q9VL18
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EEF1B2 | “form complex” | “EEF1B complex” | binding |
| CSNK2A1 | unknown | EEF1B2 | phosphorylation |
| CSNK2A2 | unknown | EEF1B2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 165 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 |
|---|---|---|---|
| Signaling by ALK fusions and activated point mutants | 7 | 9.7× | 3e-03 |
| Signaling by Interleukins | 10 | 5.9× | 3e-03 |
| Cytokine Signaling in Immune system | 12 | 4.5× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intrinsic apoptotic signaling pathway | 7 | 17.9× | 8e-05 |
| translational initiation | 6 | 15.4× | 8e-04 |
| mitophagy | 6 | 13.6× | 1e-03 |
| autophagosome maturation | 5 | 12.5× | 6e-03 |
| G1/S transition of mitotic cell cycle | 7 | 10.0× | 1e-03 |
| autophagosome assembly | 6 | 9.6× | 5e-03 |
| DNA damage response | 11 | 4.2× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1332885 | NM_001959.4(EEF1B2):c.80+1G>C | Pathogenic |
| 1332886 | NM_001959.4(EEF1B2):c.185dup (p.Tyr62Ter) | Pathogenic |
| 689450 | NM_001959.4(EEF1B2):c.383C>A (p.Ser128Ter) | Pathogenic |
SpliceAI
882 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:206160055:GAGGG:G | donor_gain | 1.0000 |
| 2:206160057:GGG:G | donor_gain | 1.0000 |
| 2:206160058:GG:G | donor_gain | 1.0000 |
| 2:206160058:GGG:G | donor_gain | 1.0000 |
| 2:206160059:GG:G | donor_gain | 1.0000 |
| 2:206160060:G:GA | donor_loss | 1.0000 |
| 2:206160061:T:G | donor_loss | 1.0000 |
| 2:206160585:CAGG:C | acceptor_loss | 1.0000 |
| 2:206160586:A:C | acceptor_loss | 1.0000 |
| 2:206160587:GGT:G | acceptor_gain | 1.0000 |
| 2:206160587:GGTAT:G | acceptor_gain | 1.0000 |
| 2:206160700:G:GT | donor_gain | 1.0000 |
| 2:206160701:A:T | donor_gain | 1.0000 |
| 2:206160708:CAGGT:C | donor_loss | 1.0000 |
| 2:206160709:AGGTA:A | donor_loss | 1.0000 |
| 2:206160711:G:A | donor_loss | 1.0000 |
| 2:206160712:T:A | donor_loss | 1.0000 |
| 2:206161343:A:AG | acceptor_gain | 1.0000 |
| 2:206161344:A:AG | acceptor_gain | 1.0000 |
| 2:206161345:G:GG | acceptor_gain | 1.0000 |
| 2:206161469:GGAG:G | donor_gain | 1.0000 |
| 2:206161470:G:GT | donor_gain | 1.0000 |
| 2:206161471:AGGTA:A | donor_loss | 1.0000 |
| 2:206161473:G:GC | donor_loss | 1.0000 |
| 2:206161474:T:G | donor_loss | 1.0000 |
| 2:206162034:A:AG | acceptor_gain | 1.0000 |
| 2:206162036:A:AG | acceptor_gain | 1.0000 |
| 2:206162036:AG:A | acceptor_gain | 1.0000 |
| 2:206162037:G:A | acceptor_loss | 1.0000 |
| 2:206162037:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
1481 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:206160670:T:A | W55R | 1.000 |
| 2:206160670:T:C | W55R | 1.000 |
| 2:206162530:A:G | K147E | 1.000 |
| 2:206162532:A:C | K147N | 1.000 |
| 2:206162532:A:T | K147N | 1.000 |
| 2:206162534:C:A | P148H | 1.000 |
| 2:206162536:T:A | W149R | 1.000 |
| 2:206162536:T:C | W149R | 1.000 |
| 2:206162576:T:A | V162D | 1.000 |
| 2:206162605:T:A | W172R | 1.000 |
| 2:206162605:T:C | W172R | 1.000 |
| 2:206162747:G:A | G181E | 1.000 |
| 2:206162765:T:C | L187P | 1.000 |
| 2:206162783:T:A | V193D | 1.000 |
| 2:206162788:G:C | D195H | 1.000 |
| 2:206162850:G:C | Q215H | 1.000 |
| 2:206162850:G:T | Q215H | 1.000 |
| 2:206162869:T:C | F222L | 1.000 |
| 2:206162871:C:A | F222L | 1.000 |
| 2:206162871:C:G | F222L | 1.000 |
| 2:206161452:T:C | F104L | 0.999 |
| 2:206161454:T:A | F104L | 0.999 |
| 2:206161454:T:G | F104L | 0.999 |
| 2:206162508:G:C | K139N | 0.999 |
| 2:206162508:G:T | K139N | 0.999 |
| 2:206162509:T:C | S140P | 0.999 |
| 2:206162510:C:T | S140F | 0.999 |
| 2:206162512:T:C | S141P | 0.999 |
| 2:206162516:T:A | I142N | 0.999 |
| 2:206162516:T:G | I142S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000178857 (2:206159395 C>A,G,T), RS1000965132 (2:206158425 T>C), RS1001271223 (2:206158208 C>A,T), RS1001638994 (2:206163072 T>C), RS1001719577 (2:206157854 C>T), RS1002046580 (2:206158998 G>A,C,T), RS1002736599 (2:206160853 A>G), RS1003365375 (2:206160478 C>A,G,T), RS1003758917 (2:206159644 G>A,C,T), RS1004150430 (2:206162413 T>C,G), RS1004945256 (2:206160298 C>A), RS1005297030 (2:206159887 C>G,T), RS1005321496 (2:206161558 G>A), RS1006314251 (2:206160959 G>A), RS1006582387 (2:206160448 C>T)
Disease associations
OMIM: gene MIM:600655 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal recessive |
Mondo (2): intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_45 | Body mass index | 1.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295731 (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 |
|---|---|---|---|---|
| 6.18 | Kd | 661.5 | nM | CHEMBL5653589 |
| 6.18 | ED50 | 661.5 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 3 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 | 2147935: Binding affinity to human EEF1B2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.6615 | uM |
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Arsenic Trioxide | affects binding, decreases reaction, affects cotreatment, decreases expression | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression, decreases expression, affects methylation | 2 |
| Cadmium | increases abundance, increases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| lead chloride | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| deguelin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| pyrimidifen | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| abrine | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4270828 | Binding | Binding affinity to elongation factor 1-beta in human Hela cells lysates assessed as protein enrichment by measuring normalized heavy/light ratio at by nano-LC-ESIMS/MS analysis | Determination of Gymnemic Acid I as a Protein Biosynthesis Inhibitor Using Chemical Proteomics. — J Nat Prod |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2W9 | Abcam HEK293T EEF1B2 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
390 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| 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 |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| 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 |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| 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 |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| 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) |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder