EEF1G
gene geneOn this page
Also known as EF1G
Summary
EEF1G (eukaryotic translation elongation factor 1 gamma, HGNC:3213) is a protein-coding gene on chromosome 11q12.3, encoding Elongation factor 1-gamma (P26641). Probably plays a role in anchoring the complex to other cellular components. It is a common-essential gene (DepMap: required in 95.9% of cancer cell lines).
This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases.
Source: NCBI Gene 1937 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 60 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 95.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001404
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3213 |
| Approved symbol | EEF1G |
| Name | eukaryotic translation elongation factor 1 gamma |
| Location | 11q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EF1G |
| Ensembl gene | ENSG00000254772 |
| Ensembl biotype | protein_coding |
| OMIM | 130593 |
| Entrez | 1937 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 21 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000329251, ENST00000524420, ENST00000525340, ENST00000532986, ENST00000878312, ENST00000878313, ENST00000878314, ENST00000878315, ENST00000878316, ENST00000878317, ENST00000878318, ENST00000878319, ENST00000878320, ENST00000925053, ENST00000925054, ENST00000925055, ENST00000925056, ENST00000925057, ENST00000925058, ENST00000925059, ENST00000925060, ENST00000925061, ENST00000925062, ENST00000960087
RefSeq mRNA: 1 — MANE Select: NM_001404
NM_001404
CCDS: CCDS44626
Canonical transcript exons
ENST00000329251 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001715491 | 62573831 | 62573891 |
| ENSE00002150889 | 62559596 | 62559837 |
| ENSE00003465883 | 62560069 | 62560193 |
| ENSE00003496284 | 62571838 | 62571901 |
| ENSE00003521679 | 62572584 | 62572742 |
| ENSE00003563564 | 62566806 | 62567010 |
| ENSE00003568426 | 62560282 | 62560454 |
| ENSE00003652445 | 62570965 | 62571108 |
| ENSE00003655903 | 62567399 | 62567528 |
| ENSE00003681596 | 62571540 | 62571682 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.0164 / max 514.1399, expressed in 1815 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120134 | 44.4061 | 1811 |
| 120136 | 4.5080 | 1531 |
| 120138 | 2.6157 | 901 |
| 120137 | 1.4273 | 810 |
| 120135 | 0.9881 | 530 |
| 120133 | 0.7757 | 454 |
| 206314 | 0.1881 | 64 |
| 206313 | 0.1074 | 34 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.95 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.92 | gold quality |
| ventricular zone | UBERON:0003053 | 99.91 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 99.90 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.84 | gold quality |
| muscle of leg | UBERON:0001383 | 99.83 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.82 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.81 | gold quality |
| zone of skin | UBERON:0000014 | 99.81 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.81 | gold quality |
| skin of leg | UBERON:0001511 | 99.81 | gold quality |
| left ovary | UBERON:0002119 | 99.80 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.80 | gold quality |
| ovary | UBERON:0000992 | 99.79 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.78 | gold quality |
| rectum | UBERON:0001052 | 99.78 | gold quality |
| right ovary | UBERON:0002118 | 99.78 | gold quality |
| muscle tissue | UBERON:0002385 | 99.78 | gold quality |
| fallopian tube | UBERON:0003889 | 99.78 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 99.77 | gold quality |
| endocervix | UBERON:0000458 | 99.77 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.77 | gold quality |
| prostate gland | UBERON:0002367 | 99.77 | gold quality |
| ectocervix | UBERON:0012249 | 99.77 | gold quality |
| lymph node | UBERON:0000029 | 99.76 | gold quality |
| right uterine tube | UBERON:0001302 | 99.76 | gold quality |
| uterine cervix | UBERON:0000002 | 99.75 | gold quality |
| vagina | UBERON:0000996 | 99.75 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.75 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.75 | gold quality |
Single-cell (SCXA)
Detected in 37 experiment(s), a significant marker in 16.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 3936.14 |
| E-MTAB-8142 | yes | 131.51 |
| E-CURD-122 | yes | 95.24 |
| E-CURD-88 | yes | 67.75 |
| E-CURD-46 | yes | 62.63 |
| E-HCAD-11 | yes | 54.20 |
| E-MTAB-9221 | yes | 48.66 |
| E-MTAB-9067 | yes | 27.36 |
| E-HCAD-9 | yes | 26.38 |
| E-HCAD-13 | yes | 25.22 |
| E-CURD-112 | yes | 20.33 |
| E-ANND-3 | yes | 15.91 |
| E-GEOD-135922 | yes | 12.11 |
| E-MTAB-10042 | yes | 11.00 |
| E-HCAD-35 | yes | 8.60 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 95.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- eEF1gamma, in addition to its role in translation elongation complex, is involved in regulating Vimentin gene by contacting both pol II and the Vimentin promoter region and shuttling/nursing the Vimentin mRNA (PMID:21217813)
- Results show that eEF1Bgamma binds not only Che-1 and p53 transcripts but also their promoters. Its depletion significantly decreases p53 protein accumulation and slightly impacts on Che-1 accumulation in the mitochondria. These data support the notion that eEF1Bgamma, besides its canonical role in translation, is an RNA-binding protein and a key player in cellular stress responses. (PMID:27639846)
- study describes a novel EEF1G-ALK gene fusion in 2 pediatric patients with anaplastic large cell lymphoma that is associated with a cytoplasmic-restricted localization of the ALK fusion protein (PMID:27840423)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eef1g | ENSDARG00000056119 |
| mus_musculus | Eef1g | ENSMUSG00000071644 |
| drosophila_melanogaster | eEF1gamma | FBGN0029176 |
| caenorhabditis_elegans | WBGENE00008920 |
Paralogs (14): GSTO2 (ENSG00000065621), GSTT2 (ENSG00000099984), GSTZ1 (ENSG00000100577), GDAP1 (ENSG00000104381), CLIC5 (ENSG00000112782), GDAP1L1 (ENSG00000124194), GSTT2B (ENSG00000133433), GSTO1 (ENSG00000148834), CLIC2 (ENSG00000155962), CLIC6 (ENSG00000159212), CLIC4 (ENSG00000169504), CLIC3 (ENSG00000169583), CLIC1 (ENSG00000213719), GSTT4 (ENSG00000276950)
Protein
Protein identifiers
Elongation factor 1-gamma — P26641 (reviewed: P26641)
Alternative names: eEF-1B gamma
All UniProt accessions (2): P26641, Q53YD7
UniProt curated annotations — full annotation on UniProt →
Function. Probably plays a role in anchoring the complex to other cellular components.
Subunit / interactions. EF-1 is composed of four subunits: alpha, beta, delta, and gamma.
Tissue specificity. Highly expressed in pancreatic tumor tissue and to a lesser extent in normal kidney, intestine, pancreas, stomach, lung, brain, spleen and liver.
Induction. Down-regulated in response to enterovirus 71 (EV71) infection.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P26641-1 | 1 | yes |
| P26641-2 | 2 |
RefSeq proteins (1): NP_001395* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001662 | EF1B_G_C | Domain |
| IPR004045 | Glutathione_S-Trfase_N | Domain |
| IPR004046 | GST_C | Domain |
| IPR010987 | Glutathione-S-Trfase_C-like | Domain |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR036282 | Glutathione-S-Trfase_C_sf | Homologous_superfamily |
| IPR036433 | EF1B_G_C_sf | Homologous_superfamily |
| IPR040079 | Glutathione_S-Trfase | Family |
| IPR050802 |
Pfam: PF00043, PF00647, PF02798
UniProt features (54 total): helix 24, strand 8, modified residue 6, turn 5, domain 3, cross-link 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5JPO | X-RAY DIFFRACTION | 2 |
| 5DQS | X-RAY DIFFRACTION | 2.1 |
| 1PBU | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P26641-F1 | 85.93 | 0.65 |
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 (8): 401, 434, 434, 253, 285, 2, 147, 212
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-156842 | Eukaryotic Translation Elongation |
| R-HSA-9725370 | Signaling by ALK fusions and activated point mutants |
MSigDB gene sets: 229 (showing top):
MODULE_151, GNF2_TPT1, GCM_NPM1, MORF_UBE2I, MODULE_150, HSIAO_HOUSEKEEPING_GENES, TGACCTY_ERR1_Q2, MODULE_149, GGGTGGRR_PAX4_03, GOBP_TRANSLATION, MORF_CCNI, BLALOCK_ALZHEIMERS_DISEASE_UP, GNF2_FBL, GOBP_TRANSLATIONAL_ELONGATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN
GO Biological Process (3): translational elongation (GO:0006414), response to virus (GO:0009615), translation (GO:0006412)
GO Molecular Function (3): translation elongation factor activity (GO:0003746), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), extracellular exosome (GO:0070062), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Translation | 1 |
| Signaling by ALK in cancer | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| macromolecule biosynthetic process | 2 |
| translational elongation | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| translation | 1 |
| response to other organism | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational termination | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| translation factor activity | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| extracellular vesicle | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
5865 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EEF1G | EEF1B2 | P24534 | 999 |
| EEF1G | EEF1D | P29692 | 999 |
| EEF1G | EEF1A1 | P04719 | 973 |
| EEF1G | PARS2 | Q7L3T8 | 775 |
| EEF1G | EEF1A2 | P54266 | 755 |
| EEF1G | HPGDS | O60760 | 740 |
| EEF1G | EEF2 | P13639 | 713 |
| EEF1G | EPRS1 | P07814 | 711 |
| EEF1G | GAPDH | P00354 | 705 |
| EEF1G | OAZ1 | P54368 | 672 |
| EEF1G | KTN1 | Q86UP2 | 622 |
| EEF1G | RPL19 | P14118 | 613 |
| EEF1G | EEF1E1 | O43324 | 611 |
| EEF1G | RPS18 | P25232 | 599 |
| EEF1G | CCT3 | P49368 | 592 |
IntAct
379 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EEF1B2 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.890 |
| EEF1G | EEF1D | psi-mi:“MI:0915”(physical association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| EEF1G | EEF1D | psi-mi:“MI:0915”(physical association) | 0.670 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| EEF1G | NIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EEF1G | DSS4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 | |
| EEF1G | ASN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NIP1 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ASN2 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| DSS4 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHEK2 | PPM1G | psi-mi:“MI:0914”(association) | 0.560 |
| PKN1 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYG1 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| TYR | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
| EEF1G | UQCRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BRK1 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (667): EEF1G (Two-hybrid), EEF1G (Two-hybrid), EEF1G (Reconstituted Complex), EEF1G (Reconstituted Complex), EEF1G (Affinity Capture-MS), EEF1G (Two-hybrid), EEF1G (Two-hybrid), ILF2 (Two-hybrid), RBM6 (Two-hybrid), KLHL18 (Two-hybrid), PLGRKT (Two-hybrid), EEF1DP3 (Two-hybrid), EEF1G (Two-hybrid), EEF1G (Affinity Capture-MS), EEF1G (Affinity Capture-MS)
ESM2 similar proteins: A0A1U8QXK4, A2Q127, O04487, O14617, O75061, P06625, P08240, P12261, P15368, P26641, P26642, P29547, P29694, P30111, P35611, P36008, P40921, P54412, P78615, Q0II26, Q13155, Q17N71, Q27974, Q29387, Q32PX2, Q3MHE8, Q3SZV3, Q4R7H5, Q4WB03, Q5RA10, Q5Z627, Q68FR6, Q6PE25, Q6YW46, Q7PZD5, Q80TZ3, Q865S1, Q8R010, Q90YC0, Q91375
Diamond homologs: A0A1U8QXK4, A0A6J4B5J2, A2Q127, C8VQ63, P0CG29, P0CG30, P12261, P26641, P26642, P29547, P29694, P36008, P40921, P42936, Q00717, Q29387, Q3SZV3, Q4R7H5, Q4WB03, Q5Z627, Q68FR6, Q6PE25, Q6YW46, Q90YC0, Q9D8N0, Q9FUM1, Q9VG98, Q9ZRI7, S0EHD0, W7MMJ0, B5BP46, O80852, P04907, P12653, P45875, P54412, P9WEZ8, Q84TK0, Q8KN33, Q91375
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EEF1G | “form complex” | “EEF1B complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 172 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 |
|---|---|---|---|
| PIP3 activates AKT signaling | 11 | 6.7× | 6e-04 |
| Intracellular signaling by second messengers | 8 | 6.6× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| tricarboxylic acid cycle | 5 | 19.2× | 2e-03 |
| autophagosome maturation | 6 | 15.8× | 7e-04 |
| positive regulation of fibroblast proliferation | 7 | 15.6× | 2e-04 |
| cellular response to hydrogen peroxide | 7 | 12.3× | 7e-04 |
| mitophagy | 5 | 11.9× | 8e-03 |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 6 | 9.5× | 7e-03 |
| negative regulation of gene expression | 10 | 5.2× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1189 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:62559833:CTCAG:C | acceptor_gain | 1.0000 |
| 11:62559834:TCAG:T | acceptor_gain | 1.0000 |
| 11:62559834:TCAGC:T | acceptor_loss | 1.0000 |
| 11:62559835:CAG:C | acceptor_gain | 1.0000 |
| 11:62559835:CAGC:C | acceptor_gain | 1.0000 |
| 11:62559836:AG:A | acceptor_gain | 1.0000 |
| 11:62559836:AGCT:A | acceptor_loss | 1.0000 |
| 11:62559837:GCTG:G | acceptor_loss | 1.0000 |
| 11:62559838:C:CC | acceptor_gain | 1.0000 |
| 11:62559838:CTG:C | acceptor_loss | 1.0000 |
| 11:62560062:T:A | donor_gain | 1.0000 |
| 11:62560064:CTCAC:C | donor_loss | 1.0000 |
| 11:62560065:TCACC:T | donor_loss | 1.0000 |
| 11:62560066:CA:C | donor_loss | 1.0000 |
| 11:62560067:A:AC | donor_gain | 1.0000 |
| 11:62560068:C:CC | donor_gain | 1.0000 |
| 11:62560068:C:CT | donor_loss | 1.0000 |
| 11:62560068:C:T | donor_loss | 1.0000 |
| 11:62560189:CATTC:C | acceptor_gain | 1.0000 |
| 11:62560190:ATTC:A | acceptor_gain | 1.0000 |
| 11:62560191:TTC:T | acceptor_gain | 1.0000 |
| 11:62560192:TC:T | acceptor_gain | 1.0000 |
| 11:62560193:CC:C | acceptor_gain | 1.0000 |
| 11:62560194:C:CA | acceptor_loss | 1.0000 |
| 11:62560194:C:CC | acceptor_gain | 1.0000 |
| 11:62560200:C:CT | acceptor_gain | 1.0000 |
| 11:62560201:G:T | acceptor_gain | 1.0000 |
| 11:62560203:C:CT | acceptor_gain | 1.0000 |
| 11:62560276:TCTTA:T | donor_loss | 1.0000 |
| 11:62560277:CTTA:C | donor_loss | 1.0000 |
AlphaMissense
2884 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:62560101:A:G | W375R | 1.000 |
| 11:62560101:A:T | W375R | 1.000 |
| 11:62560106:C:T | G373E | 1.000 |
| 11:62560193:C:T | G344E | 1.000 |
| 11:62560290:A:G | L341P | 1.000 |
| 11:62560430:C:A | K294N | 1.000 |
| 11:62560430:C:G | K294N | 1.000 |
| 11:62560432:T:C | K294E | 1.000 |
| 11:62559682:C:A | K437N | 0.999 |
| 11:62559682:C:G | K437N | 0.999 |
| 11:62559695:C:T | G433D | 0.999 |
| 11:62559696:C:G | G433R | 0.999 |
| 11:62559798:A:G | W399R | 0.999 |
| 11:62559798:A:T | W399R | 0.999 |
| 11:62559816:C:G | D393H | 0.999 |
| 11:62560107:C:G | G373R | 0.999 |
| 11:62560107:C:T | G373R | 0.999 |
| 11:62560147:A:C | S359R | 0.999 |
| 11:62560147:A:T | S359R | 0.999 |
| 11:62560149:T:G | S359R | 0.999 |
| 11:62560151:G:T | A358D | 0.999 |
| 11:62560153:G:C | F357L | 0.999 |
| 11:62560153:G:T | F357L | 0.999 |
| 11:62560155:A:G | F357L | 0.999 |
| 11:62560164:T:C | K354E | 0.999 |
| 11:62560166:C:A | R353M | 0.999 |
| 11:62560178:A:G | L349P | 0.999 |
| 11:62560181:C:G | R348P | 0.999 |
| 11:62560282:C:G | G344R | 0.999 |
| 11:62560282:C:T | G344R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000147208 (11:62568791 G>A), RS1000451807 (11:62567325 G>A,T), RS1000630294 (11:62571239 C>A,T), RS1000736984 (11:62562295 G>A), RS1001006923 (11:62560601 A>C), RS1001061820 (11:62573470 C>A), RS1001090242 (11:62567094 A>C,G), RS1001367866 (11:62570345 A>T), RS1001419989 (11:62570189 G>C), RS1001485504 (11:62573975 T>A,C), RS1001643910 (11:62568099 G>C), RS1001925456 (11:62565722 A>G), RS1002074966 (11:62568464 A>G), RS1002101642 (11:62559991 T>A,G), RS1002382551 (11:62566612 C>G)
Disease associations
OMIM: gene MIM:130593 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004567_101 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 8.000000e-08 |
| GCST004567_28 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 1.000000e-07 |
| GCST004567_9 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 5.000000e-07 |
| GCST004567_90 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 1.000000e-07 |
| GCST004576_22 | Waist-to-hip ratio adjusted for body mass index | 4.000000e-08 |
| GCST004576_24 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-08 |
| GCST004576_48 | Waist-to-hip ratio adjusted for body mass index | 3.000000e-08 |
| GCST004576_50 | Waist-to-hip ratio adjusted for body mass index | 9.000000e-07 |
| GCST004578_41 | Waist-to-hip ratio adjusted for BMI in active individuals | 3.000000e-06 |
| GCST004578_79 | Waist-to-hip ratio adjusted for BMI in active individuals | 3.000000e-06 |
| GCST005956_12 | Waist-to-hip ratio adjusted for BMI | 2.000000e-06 |
| GCST005962_37 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 5.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008002 | physical activity measurement |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295735 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
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 |
|---|---|---|---|---|
| 9.31 | Kd | 0.491 | nM | CHEMBL5653589 |
| 9.31 | ED50 | 0.491 | nM | CHEMBL5653589 |
| 7.94 | Kd | 11.42 | nM | CHEMBL3752910 |
| 7.94 | ED50 | 11.42 | nM | CHEMBL3752910 |
| 5.37 | IC50 | 4300 | nM | MOLIBRESIB |
PubChem BioAssay actives
3 with measured affinity, of 12 total; 3 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 | 2148288: Binding affinity to human EEF1G incubated for 45 mins by Kinobead based pull down assay | kd | 0.0005 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148288: Binding affinity to human EEF1G incubated for 45 mins by Kinobead based pull down assay | kd | 0.0114 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178856: Inhibition of EEF1G (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 4.3000 | uM |
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 4 |
| perfluorooctanoic acid | decreases expression, increases expression | 2 |
| perfluorooctane sulfonic acid | increases expression, decreases expression | 2 |
| chloropicrin | affects expression, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases metabolic processing | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| perfluorodecanesulfonic acid | increases expression | 1 |
| uranyl acetate | affects expression | 1 |
| titanium dioxide | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| 3,3’-diindolylmethane | increases expression, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| quinoline | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| tanespimycin | decreases expression, affects cotreatment | 1 |
| fenpyroximate | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| STA 9090 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| VER 155008 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
ChEMBL screening assays
9 unique, capped per target: 9 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4119049 | Binding | Binding affinity to EEF1G in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.