EEF1A2

Chr 20

eukaryotic translation elongation factor 1 alpha 2

Also known as: DEE33, EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN

NCBI Gene: 1917 ENSG00000101210 UniProt: Q05639

The protein catalyzes the enzymatic delivery of aminoacyl tRNAs to the ribosome as part of the elongation factor-1 complex and is specifically expressed in brain, heart, and skeletal muscle. Loss-of-function mutations cause developmental and epileptic encephalopathy 33 and autosomal dominant intellectual developmental disorder 38 through an autosomal dominant inheritance pattern. The high intolerance to loss-of-function variants (pLI 0.996, LOEUF 0.186) reflects the protein's essential role in translation elongation during protein synthesis.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 33

UniProtIntellectual developmental disorder, autosomal dominant 38

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.19

LOEUF· LoF intol.

GOF*

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Dual constrained — LoF & missense intolerant

LoF Constraint?

0.19LOEUF

pLI 0.996

Z-score 3.71

OE 0.00 (0.00–0.19)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

4.82Z-score

OE missense 0.23 (0.18–0.28)

69 obs / 306.2 exp

Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.19)

0≤0.351.4

Missense OE?0.23 (0.18–0.28)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 0 / 16.0Missense obs/exp: 69 / 306.2Syn Z: 0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EEF1A2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Pathologic Stage IIIA Cutaneous Melanoma AJCC v8Pathologic Stage IIA Cutaneous Melanoma AJCC v8Pathologic Stage IIB Cutaneous Melanoma AJCC v8

Atorvastatin for Preventing Disease Metastasis in Patients With Resected High-Risk Stage IIA, IIB, or IIIA Melanoma

ACTIVE NOT RECRUITING

NCT06157099Phase PHASE2OHSU Knight Cancer InstituteStarted 2024-09-01

AtorvastatinPlacebo AdministrationComputed Tomography

PRS-based Primary Prevention of CVD

Polygenic Risk Driven Pragmatic Statin Trial for Heart Disease Prevention

ACTIVE NOT RECRUITING

NCT06820086Phase PHASE4Mikk JÜRISSONStarted 2025-03-26

Rosuvastatin 20mg

Healthy Population

Italian Digital Primary Cardiovascular Prevention Study

ACTIVE NOT RECRUITING

NCT05339841Phase NACentro Cardiologico MonzinoStarted 2022-06-10

Mobile health application

Type 1 Diabetes

Cholesterol Lowering and Residual Risk in Diabetes, Type 1

RECRUITING

NCT05641753Phase PHASE4NYU Langone HealthStarted 2022-12-06

Evolocumab CartridgeAtorvastatin Calcium TabletsEzetimibe Tablets

Cirrhosis

Multi-Center Study of the Effects of Simvastatin on Hepatic Decompensation and Death in Subjects Presenting With High-Risk Compensated Cirrhosis

ACTIVE NOT RECRUITING

NCT03654053Phase PHASE3VA Office of Research and DevelopmentStarted 2020-10-02

Placebo Oral TabletSimvastatin 40mg

Preeclampsia (PE)Intrauterine Growth Restriction (IUGR)Placental Insufficiency

Statin Intervention for Severe Early-Onset Placental Insufficiency. (STATIN-PRE Trial)

RECRUITING

NCT07098975Phase PHASE2Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauStarted 2026-01-14

Pravastatin 40 mgPlacebo

Kidney Neoplasms

MRI Functional Imaging Characteristics and Fat Quantification of CT-fat-free Renal Neoplasms: Relationships With Histological Classifications and Molecular Markers

ACTIVE NOT RECRUITING

NCT06126159Phase NAChang Gung Memorial HospitalStarted 2019-02-11

multiparametric and fat-detection magnetic resonance imaging (MRI)

Non-Small Cell Lung Cancer (NSCLC)HyperlipidemiaALK Gene Mutation

Management Strategy of 1L Lorlatinib With Hyperlipidemia in Stage IIIB-IV ALK Positive NSCLC

NOT YET RECRUITING

NCT07674524Sun Yat-sen UniversityStarted 2026-08-01

For Part A - Observational Cohort:Part B: Intensive Lipid-Lowering GroupFor Part B - Intensive Group

Heart Diseases

MyGeneRank: A Digital Platform for Next-Generation Genetic Studies

RECRUITING

NCT03277365Phase NAScripps Translational Science InstituteStarted 2017-09-26