HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EIF2D
eukaryotic translation initiation factor 2D
Chromosome 1 · 1q32.1
NCBI Gene: 1939Ensembl: ENSG00000143486.17HGNC: HGNC:6583UniProt: P41214
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
IRES-dependent viral translational initiationcytoplasmcytosolformation of translation preinitiation complexneurodegenerative diseaseHypercholesterolemiamultinodular goiterIchthyosis - hepatosplenomegaly - cerebellar degeneration
✦AI Summary

EIF2D is a non-canonical translation initiation factor that delivers initiator and elongator tRNAs to the ribosomal P-site in a GTP-independent manner 1. Unlike canonical eIF2, eIF2D functions when eIF2α is phosphorylated under stress conditions, enabling continued translation of specific mRNAs 1. Structurally, eIF2D contains C-terminal domains resembling eIF1 (involved in codon selection) and a SWIB/MDM2 fold unique among translation initiation factors 1. Beyond initiation, eIF2D promotes 40S ribosomal subunit recycling during intrinsic ribosome destabilization through its winged helix domain, which distinguishes it functionally from the MCTS1-DENR complex 2. eIF2D also facilitates translation reinitiation at upstream open reading frames (uORFs), though this function differs mechanistically from MCTS1-DENR-dependent reinitiation 3. Dysregulation of eIF2D and other translation factors is associated with psychoneurological and neurodegenerative diseases, making eIF2D a potential diagnostic biomarker 4. Notably, eIF2D does not participate in hepatitis C virus IRES-driven translation under standard conditions 5. These findings establish eIF2D as a multifunctional factor critical for stress-responsive translation, ribosome recycling, and reinitiation.

Sources cited
1
eIF2D structure contains C-terminal domains with eIF1-like and SWIB/MDM2 folds; enables translation when eIF2α is phosphorylated
PMID: 28736176
2
eIF2D promotes 40S ribosomal subunit recycling during intrinsic ribosome destabilization through its winged helix domain
PMID: 41335470
3
eIF2D participates in translation reinitiation at uORFs with distinct mechanisms from MCTS1-DENR
PMID: 39748120
4
eIF2D dysregulation is associated with psychoneurological and neurodegenerative diseases and serves as a potential diagnostic biomarker
PMID: 41354083
5
eIF2D does not participate in hepatitis C virus IRES-driven translation
PMID: 29487587
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
HypercholesterolemiaOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.27Weak
Ichthyosis - hepatosplenomegaly - cerebellar degenerationOpen Targets
0.04Suggestive
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndromeOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.04Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.04Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
autoinflammation with episodic fever and lymphadenopathyOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.04Suggestive
immunodeficiency 118Open Targets
0.04Suggestive
Mast Cell SarcomaOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EIF1Protein interaction100%EIF5BProtein interaction99%RPS3Protein interaction99%FAUProtein interaction99%RPS6Protein interaction98%RPS15Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
74%
Heart
62%
Lung
59%
Liver
56%
Brain
35%
Gene Interaction Network
Click a node to explore
EIF2DEIF1EIF5BRPS3FAURPS6RPS15
PROTEIN STRUCTURE
Preparing viewer…
PDB5W2F · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.55–0.86]
RankingsWhere EIF2D stands among ~20K protein-coding genes
  • #9,443of 20,598
    Most Researched45
  • #7,558of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedEIF2D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Crystal Structure of the C-terminal Domain of Human eIF2D and Its Implications on Eukaryotic Translation Initiation.
PMID: 28736176
J Mol Biol · 2017
1.00
2
In Search of Novel Diagnostic Biomarkers for Psychoneurological and Neurodegenerative Diseases: Translation Factors DENR and eIF2D.
PMID: 41354083
Biochemistry (Mosc) · 2025
0.90
3
Hepatitis C Virus Translation Regulation.
PMID: 32230899
Int J Mol Sci · 2020
0.80
4
The Initiation Factors eIF2, eIF2A, eIF2D, eIF4A, and eIF4G Are Not Involved in Translation Driven by Hepatitis C Virus IRES in Human Cells.
PMID: 29487587
Front Microbiol · 2018
0.70
5
MCTS2 and distinct eIF2D roles in uORF-dependent translation regulation revealed by in vitro re-initiation assays.
PMID: 39748120
EMBO J · 2025
0.60