EIF2D
gene geneOn this page
Also known as LGTN
Summary
EIF2D (eukaryotic translation initiation factor 2D, HGNC:6583) is a protein-coding gene on chromosome 1q32.1, encoding Eukaryotic translation initiation factor 2D (P41214). Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner.
This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 1939 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 124 total
- MANE Select transcript:
NM_006893
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6583 |
| Approved symbol | EIF2D |
| Name | eukaryotic translation initiation factor 2D |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LGTN |
| Ensembl gene | ENSG00000143486 |
| Ensembl biotype | protein_coding |
| OMIM | 613709 |
| Entrez | 1939 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 17 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000271764, ENST00000367114, ENST00000437518, ENST00000461334, ENST00000468891, ENST00000472709, ENST00000474408, ENST00000484492, ENST00000613435, ENST00000617960, ENST00000620382, ENST00000910991, ENST00000910992, ENST00000910993, ENST00000910994, ENST00000910995, ENST00000910996, ENST00000937103, ENST00000937104, ENST00000955145, ENST00000955146, ENST00000955147, ENST00000955148, ENST00000955149, ENST00000955150
RefSeq mRNA: 2 — MANE Select: NM_006893
NM_001201478, NM_006893
CCDS: CCDS1465, CCDS55680
Canonical transcript exons
ENST00000271764 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000960344 | 206611184 | 206611374 |
| ENSE00000960346 | 206608236 | 206608326 |
| ENSE00000960348 | 206602951 | 206603204 |
| ENSE00001896912 | 206591642 | 206591845 |
| ENSE00002386259 | 206593619 | 206593793 |
| ENSE00003485651 | 206600263 | 206600308 |
| ENSE00003488490 | 206599463 | 206599612 |
| ENSE00003534897 | 206599003 | 206599092 |
| ENSE00003569325 | 206599733 | 206599836 |
| ENSE00003615350 | 206597100 | 206597195 |
| ENSE00003659159 | 206605400 | 206605507 |
| ENSE00003669568 | 206602336 | 206602453 |
| ENSE00003672107 | 206609376 | 206609459 |
| ENSE00003731489 | 206595718 | 206595838 |
| ENSE00003841977 | 206612287 | 206612465 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 95.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.3352 / max 62.0517, expressed in 1793 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17076 | 14.2910 | 1790 |
| 17075 | 1.9806 | 1248 |
| 17077 | 0.0636 | 16 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 95.60 | gold quality |
| body of uterus | UBERON:0009853 | 95.21 | gold quality |
| right ovary | UBERON:0002118 | 94.94 | gold quality |
| right uterine tube | UBERON:0001302 | 94.80 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.71 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.60 | gold quality |
| parotid gland | UBERON:0001831 | 94.49 | gold quality |
| body of pancreas | UBERON:0001150 | 94.44 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.35 | gold quality |
| endocervix | UBERON:0000458 | 94.12 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.95 | gold quality |
| apex of heart | UBERON:0002098 | 93.94 | gold quality |
| lower esophagus | UBERON:0013473 | 93.93 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.89 | gold quality |
| tibial nerve | UBERON:0001323 | 93.88 | gold quality |
| triceps brachii | UBERON:0001509 | 93.82 | gold quality |
| ovary | UBERON:0000992 | 93.74 | gold quality |
| ectocervix | UBERON:0012249 | 93.67 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.63 | gold quality |
| body of stomach | UBERON:0001161 | 93.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.60 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.58 | gold quality |
| muscle of leg | UBERON:0001383 | 93.58 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.55 | gold quality |
| right coronary artery | UBERON:0001625 | 93.52 | gold quality |
| popliteal artery | UBERON:0002250 | 93.51 | gold quality |
| tibial artery | UBERON:0007610 | 93.51 | gold quality |
| thyroid gland | UBERON:0002046 | 93.45 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.38 | gold quality |
| rectum | UBERON:0001052 | 93.36 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.13 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR2
miRNA regulators (miRDB)
15 targeting EIF2D, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
Literature-anchored findings (GeneRIF, showing 7)
- Data suggest that neither eIF2A nor eIF2D are involved in the translation of this Sindbis virus subgenomic mRNA (sgmRNA) bearing non-AUG codons (PMID:28240315)
- Reinitiation complexes involving initiation factors eIF2D, MCT-1, and DENR controls the translation of a large fraction of mammalian cellular mRNAs. (PMID:28732596)
- a novel uORF-based regulatory mechanism that is employed under conditions of hyperosmotic stress by at least two human mRNAs, coding for translation reinitiation/recycling factor eIF2D and E3 ubiquitin ligase MDM2. This novel mode of translational control selectively downregulates their expression and requires as few as one uORF. (PMID:30419262)
- this is the first report which confirms the presence of ligatin and fibulin-7 in human aqueous humor, quantified their differential expression, and indicated the possibility of their involvement in the maintenance of the trabecular meshwork structure in glaucoma progression. (PMID:30958601)
- We observed a positive correlation trend between EIF2D mRNA levels and years of schizophrenia (SZ) disease (p=0.0794; r=0.35). We found a trend of an increase in the expression levels of EIF2D (p=0.0634) in patients suffering from the disease more than 10years compared with the SZ patients from the other subgroup . (PMID:31078689)
- The enterovirus genome can be translated in an IRES-independent manner that requires the initiation factors eIF2A/eIF2D. (PMID:36689548)
- To initiate or not to initiate: A critical assessment of eIF2A, eIF2D, and MCT-1.DENR to deliver initiator tRNA to ribosomes. (PMID:38433101)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eif2d | ENSDARG00000012929 |
| mus_musculus | Eif2d | ENSMUSG00000026427 |
| rattus_norvegicus | Eif2d | ENSRNOG00000004910 |
| drosophila_melanogaster | eIF2D | FBGN0041588 |
| caenorhabditis_elegans | WBGENE00016113 |
Protein
Protein identifiers
Eukaryotic translation initiation factor 2D — P41214 (reviewed: P41214)
Alternative names: Hepatocellular carcinoma-associated antigen 56, Ligatin
All UniProt accessions (5): P41214, A0A087WVB6, A0A087X1L6, A0A087X202, Q5SY38
UniProt curated annotations — full annotation on UniProt →
Function. Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P-site of the 40S subunit. In addition to its role in initiation, can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits.
Subcellular location. Cytoplasm.
Similarity. Belongs to the eIF2D family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P41214-1 | 1 | yes |
| P41214-2 | 2 |
RefSeq proteins (2): NP_001188407, NP_008824* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001950 | SUI1 | Domain |
| IPR002478 | PUA | Domain |
| IPR003121 | SWIB_MDM2_domain | Domain |
| IPR015947 | PUA-like_sf | Homologous_superfamily |
| IPR036877 | SUI1_dom_sf | Homologous_superfamily |
| IPR036885 | SWIB_MDM2_dom_sf | Homologous_superfamily |
| IPR039757 | EIF2D | Family |
| IPR039759 | eIF2D_SUI1 | Domain |
| IPR041366 | Pre-PUA | Domain |
| IPR048247 | eIF2D_N | Domain |
| IPR048248 | PUA_eIF2d-like | Domain |
| IPR057429 | WH_eIF2D | Domain |
| IPR058886 | SWIB_eIF2D | Domain |
Pfam: PF01253, PF17832, PF25304, PF26291, PF26292
UniProt features (41 total): strand 11, helix 11, modified residue 4, sequence conflict 4, domain 3, turn 2, compositionally biased region 2, chain 1, splice variant 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5W2F | X-RAY DIFFRACTION | 1.4 |
| 5OA9 | X-RAY DIFFRACTION | 1.8 |
| 5OA3 | ELECTRON MICROSCOPY | 4.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P41214-F1 | 76.23 | 0.31 |
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 (4): 361, 1, 237, 254
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_TRANSLATIONAL_INITIATION, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, GOBP_TRANSLATION, NIKOLSKY_BREAST_CANCER_1Q32_AMPLICON, GOBP_FORMATION_OF_TRANSLATION_PREINITIATION_COMPLEX, GOBP_CYTOPLASMIC_TRANSLATIONAL_INITIATION, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_ORGANELLE_DISASSEMBLY, CASTELLANO_HRAS_AND_NRAS_TARGETS_UP, HATADA_METHYLATED_IN_LUNG_CANCER_UP, CHENG_RESPONSE_TO_NICKEL_ACETATE, GOBP_VIRAL_GENE_EXPRESSION
GO Biological Process (7): formation of translation preinitiation complex (GO:0001731), intracellular protein transport (GO:0006886), ribosome disassembly (GO:0032790), IRES-dependent viral translational initiation (GO:0075522), translation (GO:0006412), translational initiation (GO:0006413), protein-containing complex organization (GO:0043933)
GO Molecular Function (3): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), signaling receptor activity (GO:0038023)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translational initiation | 2 |
| cellular anatomical structure | 2 |
| cytoplasmic translational initiation | 1 |
| protein-RNA complex assembly | 1 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| organelle disassembly | 1 |
| viral process | 1 |
| viral translation | 1 |
| peptidyltransferase activity | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| formation of translation initiation ternary complex | 1 |
| translation | 1 |
| metabolic process | 1 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| translation factor activity | 1 |
| molecular transducer activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1140 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EIF2D | EIF1 | P41567 | 974 |
| EIF2D | DENR | O43583 | 884 |
| EIF2D | EIF5B | O60841 | 813 |
| EIF2D | EIF5 | P55010 | 720 |
| EIF2D | ABCE1 | P61221 | 715 |
| EIF2D | EIF3J | O75822 | 585 |
| EIF2D | EIF4A1 | P04765 | 543 |
| EIF2D | EIF4A2 | Q14240 | 519 |
| EIF2D | RPS25 | P25111 | 505 |
| EIF2D | EIF4G1 | Q04637 | 488 |
| EIF2D | EIF4B | P23588 | 481 |
| EIF2D | MCTS1 | Q9ULC4 | 469 |
| EIF2D | MRRF | Q96E11 | 455 |
| EIF2D | EIF4H | Q15056 | 449 |
| EIF2D | EIF3B | P55884 | 437 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| EIF2D | HSPA8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| PSMC3 | psi-mi:“MI:0914”(association) | 0.350 | |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| CSNK2A1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC18 | PAPSS2 | psi-mi:“MI:0914”(association) | 0.350 |
| EIF3G | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| PSPC1 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| RACK1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RPS11 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS16 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| C11orf87 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| PRPS2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| GMPPB | PRMT3 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC5L | psi-mi:“MI:0914”(association) | 0.350 | |
| EFTUD2 | NACA | psi-mi:“MI:2364”(proximity) | 0.270 |
| SBDS | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZC3H11A | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZNF800 | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| DDX6 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EIF2D | RAD51 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (71): EIF2D (Affinity Capture-MS), EIF2D (Affinity Capture-MS), CALU (Co-fractionation), CKAP5 (Co-fractionation), EIF1 (Co-fractionation), EIF2D (Co-fractionation), EIF2D (Co-fractionation), EIF2D (Co-fractionation), EIF2D (Co-fractionation), EIF2D (Co-fractionation), EIF2D (Co-fractionation), HARS (Co-fractionation), HNRNPR (Co-fractionation), NAA38 (Co-fractionation), RCC2 (Co-fractionation)
ESM2 similar proteins: A0A1L1SUL6, F1LQY6, O35465, O43379, O75293, O88910, O88954, P0C0T1, P21964, P22339, P41214, P50747, Q13368, Q13572, Q14318, Q16342, Q1HAQ0, Q28955, Q2T9Z1, Q3B7U9, Q3TFD2, Q3TMX7, Q496Y0, Q4AC99, Q5BIM1, Q5E9A5, Q5R812, Q5RA63, Q5SZD4, Q64311, Q6DC64, Q6P5G6, Q6PFY8, Q80YV4, Q8BNV1, Q8BYN3, Q8NFZ0, Q8R1C6, Q8R1T1, Q8TCU6
Diamond homologs: P0CL18, P41214, P87313, Q58CR3, Q5PPG7, Q5RA63, Q61211, A0A3B3IRV3, P89886, Q2KIE4, Q4G009, Q58827, Q5PPY1, Q5ZI42, Q6DER1, Q6NRJ7, Q75AA8, Q7ZV34, Q86KL4, Q9CQ21, Q9DB27, Q9ULC4, Q9W445
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 41 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 |
|---|---|---|---|
| Regulation of expression of SLITs and ROBOs | 5 | 11.9× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 5 | 24.4× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2515 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:206583257:T:TA | acceptor_gain | 1.0000 |
| 1:206583265:CCAG:C | acceptor_loss | 1.0000 |
| 1:206583266:CA:C | acceptor_loss | 1.0000 |
| 1:206583267:A:AG | acceptor_gain | 1.0000 |
| 1:206583267:AGAAT:A | acceptor_gain | 1.0000 |
| 1:206583268:G:GG | acceptor_gain | 1.0000 |
| 1:206583268:GA:G | acceptor_gain | 1.0000 |
| 1:206583268:GAA:G | acceptor_gain | 1.0000 |
| 1:206583268:GAAT:G | acceptor_gain | 1.0000 |
| 1:206583268:GAATG:G | acceptor_gain | 1.0000 |
| 1:206583375:AACTG:A | donor_gain | 1.0000 |
| 1:206583376:ACTG:A | donor_gain | 1.0000 |
| 1:206583376:ACTGG:A | donor_loss | 1.0000 |
| 1:206583377:CTG:C | donor_gain | 1.0000 |
| 1:206583378:TG:T | donor_gain | 1.0000 |
| 1:206583378:TGG:T | donor_loss | 1.0000 |
| 1:206583379:GG:G | donor_gain | 1.0000 |
| 1:206583379:GGTAA:G | donor_loss | 1.0000 |
| 1:206583380:G:GG | donor_gain | 1.0000 |
| 1:206584681:CAAGG:C | donor_loss | 1.0000 |
| 1:206584682:AAGG:A | donor_loss | 1.0000 |
| 1:206584684:GGTAG:G | donor_loss | 1.0000 |
| 1:206584685:G:A | donor_loss | 1.0000 |
| 1:206584686:T:G | donor_loss | 1.0000 |
| 1:206585178:A:AG | acceptor_gain | 1.0000 |
| 1:206585179:G:GG | acceptor_gain | 1.0000 |
| 1:206585179:GT:G | acceptor_gain | 1.0000 |
| 1:206586802:A:AG | acceptor_gain | 1.0000 |
| 1:206586803:C:G | acceptor_gain | 1.0000 |
| 1:206586804:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
3812 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:206600281:C:A | K310N | 0.993 |
| 1:206600281:C:G | K310N | 0.993 |
| 1:206611371:T:A | R20S | 0.993 |
| 1:206611371:T:G | R20S | 0.993 |
| 1:206593783:A:T | V507D | 0.991 |
| 1:206611372:C:G | R20T | 0.989 |
| 1:206605497:C:G | A145P | 0.988 |
| 1:206609448:A:G | W87R | 0.988 |
| 1:206609448:A:T | W87R | 0.988 |
| 1:206599823:A:G | L321P | 0.987 |
| 1:206611366:A:G | L22P | 0.987 |
| 1:206605410:C:G | D174H | 0.986 |
| 1:206605496:G:T | A145D | 0.986 |
| 1:206612337:A:C | F2L | 0.986 |
| 1:206612337:A:T | F2L | 0.986 |
| 1:206612339:A:G | F2L | 0.986 |
| 1:206599505:A:T | V387D | 0.983 |
| 1:206600283:T:C | K310E | 0.983 |
| 1:206608323:A:G | L112S | 0.983 |
| 1:206612298:C:A | K15N | 0.983 |
| 1:206612298:C:G | K15N | 0.983 |
| 1:206605401:A:G | W177R | 0.982 |
| 1:206605401:A:T | W177R | 0.982 |
| 1:206602368:G:C | S290R | 0.981 |
| 1:206602368:G:T | S290R | 0.981 |
| 1:206602370:T:G | S290R | 0.981 |
| 1:206605490:C:T | G147E | 0.981 |
| 1:206605436:C:T | G165D | 0.980 |
| 1:206597190:A:T | V433E | 0.979 |
| 1:206611186:G:T | T82K | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000085991 (1:206577586 C>T), RS1000146813 (1:206576059 G>A), RS1000184971 (1:206570988 T>A), RS1000261220 (1:206613354 G>A,C,T), RS1000315833 (1:206607032 T>C), RS1000371563 (1:206607295 C>T), RS1000541046 (1:206577378 T>C), RS1000629849 (1:206614368 A>C,G), RS1000696574 (1:206612746 T>A,C), RS1000704584 (1:206608797 A>C), RS1000991337 (1:206602659 C>T), RS1001040682 (1:206595523 G>A), RS1001230082 (1:206583929 G>A), RS1001255915 (1:206577989 G>A), RS1001307830 (1:206571703 G>A)
Disease associations
OMIM: gene MIM:613709 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010121_3 | Ceramide levels (C24:0) | 9.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, affects binding, decreases reaction, increases reaction, decreases expression | 4 |
| Valproic Acid | affects expression, decreases expression | 4 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ribonucleotides | affects binding, decreases reaction | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
Cellosaurus cell lines
5 cell lines: 4 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2WE | Abcam HEK293T EIF2D KO | Transformed cell line | Female |
| CVCL_SL72 | HAP1 EIF2D (-) 1 | Cancer cell line | Male |
| CVCL_SL73 | HAP1 EIF2D (-) 2 | Cancer cell line | Male |
| CVCL_SL74 | HAP1 EIF2D (-) 3 | Cancer cell line | Male |
| CVCL_SL75 | HAP1 EIF2D (-) 4 | Cancer cell line | Male |
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.