EIF2D
Eukaryotic Translation Initiation Factor 2D
Gene Information Card
| Symbol | EIF2D |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 2D |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 8664 ncbi.nlm.nih.gov/gene/8664 |
| Ensembl ID | ENSG00000143418 |
| UniProt ID | P41214 |
| OMIM ID | 609387 |
| HGNC ID | 3263 |
| Aliases | HSU79274, EIF2D, EIF2D_HUMAN |
Description
EIF2D encodes a component of the eukaryotic translation initiation factor 2 (eIF2) complex, which is essential for the initiation of protein synthesis. The protein binds GTP and methionyl-tRNAi, facilitating the recognition of the start codon on mRNA. EIF2D is involved in cellular stress responses and has been implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of translation initiation promotes uncontrolled cell proliferation | COSMIC, ClinVar |
| Neurodevelopmental disorders | Impaired translation initiation affects neuronal protein synthesis | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% | Altered eIF2 complex stability |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Reduced translation initiation efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations impair eIF2 complex assembly and GTP binding, reducing translation initiation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • translation initiation factor activity | • GTP binding |
| • ribosome binding | • cytoplasm |
| • eukaryotic translation initiation factor 2 complex |
Pathways
• Eukaryotic Translation Initiation
• Regulation of eIF2 activity
• Cellular response to stress
Protein Summary
EIF2D is a 517-amino acid protein that forms part of the eIF2 heterotrimer. It contains a GTP-binding domain and interacts with methionyl-tRNAi. The protein is essential for start codon recognition and translation initiation. Post-translational modifications include phosphorylation, which regulates its activity under stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF2D Knockout HEK293 Cell Line | EDJ-KQ3158 | Human | 1939 | Details Get a Quote |
| EIF2D Knockout HCT 116 Cell Line | EDJ-KQ23180 | Human | 1939 | Details Get a Quote |
| EIF2D Knockout A-549 Cell Line | EDJ-KQ24562 | Human | 1939 | Details Get a Quote |
| EIF2D Knockout HeLa Cell Line | EDJ-KQ24564 | Human | 1939 | Details Get a Quote |
