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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EEF1A2
eukaryotic translation elongation factor 1 alpha 2
Chromosome 20 Β· 20q13.33
NCBI Gene: 1917Ensembl: ENSG00000101210.16HGNC: HGNC:3192UniProt: Q05639
239PubMed Papers
22Diseases
1Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein kinase bindingprotein bindingnucleuspositive regulation of lipid kinase activityundetermined early-onset epileptic encephalopathydevelopmental and epileptic encephalopathy, 33genetic developmental and epileptic encephalopathyintellectual disability, autosomal dominant 38
✦AI Summary

EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) is a GTP-dependent translation elongation factor that catalyzes aminoacyl-tRNA delivery to the ribosomal A-site during protein synthesis 1. Unlike the ubiquitously expressed EEF1A1, EEF1A2 replaces EEF1A1 in specialized tissues, suggesting tissue-specific translational regulation 1. Beyond canonical translation, EEF1A2 functions as a multitasking protein with non-canonical roles: it acts as a transcriptional cofactor in the hypoxia-induced circ-CDYL-EEF1A2 complex driving hepatocellular carcinoma lung metastasis 2, and serves as a tumor-suppressor in breast cancer by bridging PTEN, GSK3Ξ², and the SCF ubiquitin ligase complex to promote Aurora kinase A degradation 3. EEF1A2 also regulates proteostasis under mitochondrial stress through PSMB9 expression 4. EEF1A2 displays context-dependent oncogenic properties: its lysine lactylation by KAT8 enhances translation and colorectal cancer tumorigenesis 5, while methylation by METTL13 promotes oncogenic function 3. Conversely, PTEN-bound eEF1A2 exhibits tumor-suppressive activity. Clinically, heterozygous EEF1A2 mutations cause developmental and epileptic encephalopathy 33 and intellectual developmental disorder 38 1, while its dysregulation associates with multiple solid tumors 6.

Sources cited
1
eEF1A1 and eEF1A2 are developmentally regulated paralogous proteins with mutually exclusive presence; EEF1A2 mutations cause neurological syndromes
PMID: 34203525
2
KAT8-catalyzed lactylation of eEF1A2K408 boosts translation elongation and promotes colorectal cancer tumorigenesis
PMID: 38359291
3
EEF1A2 acts as a transcriptional cofactor with circ-CDYL to promote COL14A1 expression and lung metastasis in hepatocellular carcinoma
PMID: 37852428
4
PTEN-bound eEF1A2 promotes Aurora kinase A degradation via SCF complex and GSK3Ξ², exhibiting tumor-suppressor function in breast cancer
PMID: 38442201
5
EEF1A2 regulates PSMB9 expression to maintain proteostasis under mitochondrial dysfunction
PMID: 37433777
6
EEF1A2 overexpression occurs in multiple solid tumors and represents an oncogenic switch in specialized tissues
PMID: 38172654
7
DRD2 interacts with eEF1A2 to restrict NF-ΞΊB signaling in breast cancer
PMID: 33859743
Disease Associationsβ“˜22
developmental and epileptic encephalopathy, 33Open Targets
0.74Strong
undetermined early-onset epileptic encephalopathyOpen Targets
0.74Strong
genetic developmental and epileptic encephalopathyOpen Targets
0.65Moderate
intellectual disability, autosomal dominant 38Open Targets
0.64Moderate
infantile epileptic encephalopathyOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.52Moderate
complex neurodevelopmental disorderOpen Targets
0.45Moderate
Intellectual disabilityOpen Targets
0.45Moderate
neoplasmOpen Targets
0.40Weak
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
multiple myelomaOpen Targets
0.34Weak
COVID-19Open Targets
0.29Weak
Autosomal recessive spastic paraplegia type 46Open Targets
0.27Weak
hereditary spastic paraplegia 46Open Targets
0.27Weak
SeizureOpen Targets
0.15Weak
autismOpen Targets
0.12Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Global developmental delayOpen Targets
0.12Weak
developmental disorder of mental healthOpen Targets
0.12Weak
posterior cortical atrophyOpen Targets
0.09Suggestive
Developmental and epileptic encephalopathy 33UniProt
Intellectual developmental disorder, autosomal dominant 38UniProt
Pathogenic Variants41
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)Pathogenic
Developmental and epileptic encephalopathy, 33|not provided|Inborn genetic diseases|Intellectual disability|EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|Intellectual disability, autosomal dominant 38|EEF1A2-related disorder|Intellectual disability, autosomal dominant 38;Developmental and epileptic encephalopathy, 33|Complex neurodevelopmental disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg)Pathogenic
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|Developmental and epileptic encephalopathy, 33
β˜…β˜…β˜†β˜†2025β†’ Residue 384
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)Pathogenic
Intellectual disability, autosomal dominant 38|Developmental and epileptic encephalopathy, 33|Inborn genetic diseases|EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 122
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)Pathogenic
not provided|Developmental and epileptic encephalopathy, 33|Intellectual disability|Intellectual disability, autosomal dominant 38;Developmental and epileptic encephalopathy, 33
β˜…β˜…β˜†β˜†2025β†’ Residue 124
NM_001958.5(EEF1A2):c.289G>A (p.Asp97Asn)Pathogenic
Developmental and epileptic encephalopathy, 33|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 97
NM_001958.5(EEF1A2):c.754G>A (p.Asp252Asn)Pathogenic
EEF1A2-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 252
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)Pathogenic
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|Intellectual disability, autosomal dominant 38|Intellectual disability, autosomal dominant 38;Developmental and epileptic encephalopathy, 33|not provided|Developmental and epileptic encephalopathy, 33
β˜…β˜…β˜†β˜†2025β†’ Residue 432
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)Pathogenic
not provided|EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|Intellectual disability, autosomal dominant 38|Developmental and epileptic encephalopathy, 33
β˜…β˜…β˜†β˜†2024β†’ Residue 91
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys)Pathogenic
not provided|Developmental and epileptic encephalopathy, 33|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 423
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)Pathogenic
not provided|Inborn genetic diseases|Developmental and epileptic encephalopathy, 33|Developmental and epileptic encephalopathy, 33;Intellectual disability, autosomal dominant 38|EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|Intellectual disability, autosomal dominant 38|EEF1A2-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 266
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)Likely pathogenic
not provided|Developmental and epileptic encephalopathy, 33
β˜…β˜…β˜†β˜†2022β†’ Residue 437
NM_001958.5(EEF1A2):c.286C>T (p.Arg96Cys)Pathogenic
not provided|Intellectual disability, autosomal dominant 38
β˜…β˜†β˜†β˜†2025β†’ Residue 96
NM_001958.5(EEF1A2):c.1027C>A (p.Gln343Lys)Likely pathogenic
Intellectual disability, autosomal dominant 38
β˜…β˜†β˜†β˜†2025β†’ Residue 343
NM_001958.5(EEF1A2):c.823G>C (p.Gly275Arg)Likely pathogenic
Intellectual disability, autosomal dominant 38
β˜…β˜†β˜†β˜†2025β†’ Residue 275
NM_001958.5(EEF1A2):c.205C>T (p.Arg69Cys)Pathogenic
Developmental and epileptic encephalopathy, 33
β˜…β˜†β˜†β˜†2024β†’ Residue 69
NM_001958.5(EEF1A2):c.199C>T (p.Arg67Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 67
NM_001958.5(EEF1A2):c.1145G>A (p.Arg382His)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 382
NM_001958.5(EEF1A2):c.797G>A (p.Arg266Gln)Likely pathogenic
Intellectual disability, autosomal dominant 38
β˜…β˜†β˜†β˜†2023β†’ Residue 266
NM_001958.5(EEF1A2):c.368T>G (p.Phe123Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 123
NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)Likely pathogenic
Developmental and epileptic encephalopathy, 33
β˜…β˜†β˜†β˜†2023β†’ Residue 420
View on ClinVar β†—
Drug Targets1
PLITIDEPSINApproved
Elongation factor 1-alpha 2 inhibitor
neoplasm
Related Genes
RPS18Protein interaction99%RPS3Protein interaction98%RPS15Protein interaction98%RPL5Protein interaction98%EEF1GProtein interaction98%RPS3AProtein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
55%
Liver
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
EEF1A2RPS18RPS3RPS15RPL5EEF1GRPS3A
PROTEIN STRUCTURE
Preparing viewer…
PDB3C5J Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.08–0.31]
RankingsWhere EEF1A2 stands among ~20K protein-coding genes
  • #1,643of 20,598
    Most Researched239 Β· top 10%
  • #835of 1,025
    FDA-Approved Drug Targets1
  • #1,506of 5,498
    Most Pathogenic Variants41
  • #1,244of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedEEF1A2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
KAT8-catalyzed lactylation promotes eEF1A2-mediated protein synthesis and colorectal carcinogenesis.
PMID: 38359291
Proc Natl Acad Sci U S A Β· 2024
1.00
2
Tumor suppressor DRD2 facilitates M1 macrophages and restricts NF-ΞΊB signaling to trigger pyroptosis in breast cancer.
PMID: 33859743
Theranostics Β· 2021
0.90
3
Analysis of eEF1A2 gene expression and copy number in cervical carcinoma.
PMID: 36637958
Medicine (Baltimore) Β· 2023
0.80
4
UGDH promotes 5-fluorouracil resistance in colorectal cancer via the ROS-activated PI3K/AKT-EEF1A2-PRDX1 pathway.
PMID: 40311992
Arch Biochem Biophys Β· 2025
0.72
5
Hypoxia-induced circ-CDYL-EEF1A2 transcriptional complex drives lung metastasis of cancer stem cells from hepatocellular carcinoma.
PMID: 37852428
Cancer Lett Β· 2023
0.70